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Tytuł :
From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.
Autorzy :
Harich B; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Klein M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Psychiatry, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
van der Voet M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Schimmel-Naber M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Franke B; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
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Źródło :
Journal of child psychology and psychiatry, and allied disciplines [J Child Psychol Psychiatry] 2020 May; Vol. 61 (5), pp. 545-555. Date of Electronic Publication: 2019 Dec 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Blackwell Publishers Country of Publication: England NLM ID: 0375361 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7610 (Electronic) Linking ISSN: 00219630 NLM ISO Abbreviation: J Child Psychol Psychiatry Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Autorzy :
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. .; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. .; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA. .
Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.; Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France.
Popp B; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Guo H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Harripaul R; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Scheck J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
Tang S; WuXi NextCODE, Cambridge, MA, USA.
Bonneau D; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; UMR INSERM 1083 CNRS 6015, Angers, France.
Beck A; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
White J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Harris J; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Hoyer J; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Zweier C; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Reis A; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Thiel CT; Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
Zeid N; Yale New Haven Health, New Haven, CT, USA.
Yang A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.
Farach LS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA.
Walsh L; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.
Payne K; Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA.
Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Velinov M; New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA.
Ziegler A; Département de Biochimie et de Génétique, CHU d'Angers, Angers, France.; Service de Génétique Médicale, Centre hospitalier, Le Mans, France.
Schaefer E; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.
Gatinois V; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France.
Geneviève D; Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France.; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.; Université Montpellier, Unité Inserm U1183, Montpellier, France.
Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Kohler J; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
Rotenberg J; Memorial Hermann Memorial City Medical Center, Houston, TX, USA.
Wheeler P; Arnold Palmer Hospital for Children, Orlando, FL, USA.
Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Akman CI; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID, USA.
Blanchet P; Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France.
Schillaci LA; Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France.
Gripp KW; Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA.
Mattioli F; Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France.
Guyader GL; Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France.
Gerard B; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France.
Mathieu-Dramard M; Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France.
Morin G; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA.
Sasanfar R; Children's Medical Center, UMass Memorial Medical Center, Worcester, MA, USA.
Ayub M; Department of Psychiatry, Queen's University, Kingston, ON, Canada.
Vasli N; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.
Yang S; GeneDx, Gaithersburg, MD, USA.
Person R; GeneDx, Gaithersburg, MD, USA.
Monaghan KG; GeneDx, Gaithersburg, MD, USA.
Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Enns GM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA.
Dries AM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
Rowe LJ; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
Tsai ACH; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
Svihovec S; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Agha Z; Department of Biosciences, COMSATS University, Islamabad, Pakistan.
Qamar R; Department of Biosciences, COMSATS University, Islamabad, Pakistan.
Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Martinez-Agosto J; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vincent M; CHU de Nantes, Service de génétique médicale, Nantes, France.
Sunderland WJ; University of Washington Foundation Board, University of Washington, Seattle, WA, USA.
Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital, Stanford University, Stanford, CA, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Vincent JB; The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada.; Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
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Corporate Authors :
Undiagnosed Diseases Network,
University of Washington Center for Mendelian Genomics (UW-CMG),
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 538-546. Date of Electronic Publication: 2019 Nov 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Autorzy :
Ostrowski PJ; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.
Zachariou A; Division of Clinical Studies, Institute of Cancer Research, London, UK.
Loveday C; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Beleza-Meireles A; Clinical Genetics Department, Guy's and St. Thomas NHS Trust, London, UK.
Bertoli M; Northern Genetics Service, Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
Dean J; North of Scotland Medical Genetic Service, Aberdeen Royal Infirmary, Aberdeen, UK.
Douglas AGL; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; Human Development and Health, Duthie Building, University of Southampton, Southampton, UK.
Ellis I; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Foster A; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Graham JM; David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, California.; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Hague J; East of England Regional Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.
Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Hoffer M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Josifova D; Clinical Genetics Department, Guy's and St. Thomas NHS Trust, London, UK.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Lachlan K; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Lam W; Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
Lees M; Clinical Genetics Unit, Great Ormond Street Hospital, London, UK.
Lynch S; Temple Street Children's Hospital, Dublin, Ireland.
Maitz S; Pediatric Genetics Unit, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
McKee S; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK.
Metcalfe K; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Nathanson K; Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Pierson TM; Department of Pediatrics and Neurology, and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Sanchez-Lara PA; David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, California.; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Spano A; Pediatric Genetics Unit, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.; Clinical Investigation Center 1431, National Institute of Health & Medical Research (INSERM), Besançon, France.
Cole T; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
Tatton-Brown K; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, UK.; St George's University of London, London, UK.
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Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2019 Dec; Vol. 181 (4), pp. 557-564. Date of Electronic Publication: 2019 Nov 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE
MeSH Terms :
Phenotype*
Cadherins/*genetics
Growth Disorders/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Syndrome ; Young Adult
Czasopismo naukowe
Tytuł :
Phenotype delineation of ZNF462 related syndrome.
Autorzy :
Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Hu T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Hong S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
Cogné B; Service de génétique médicale, Hôtel-Dieu, Nantes, France.
Isidor B; Service de génétique médicale, Hôtel-Dieu, Nantes, France.
Mazzola SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
England EM; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Sanchez-Lara PA; Keck School of Medicine, University of Southern California, Los Angeles, California.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California.
Kinning E; West of Scotland Genetics Service, Queen Elizabeth Hospitals, Glasgow, Scotland.
Adams DJ; Personalized Genomic Medicine and Pediatric Genetics, Atlantic Health System, Morristown, New Jersey.
Treat K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Torres-Martinez W; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
Blaney S; Genetics, Vaccine Preventable Diseases, and Sexual Health, Algoma Public Health, Sault Ste. Marie, Ontario, Canada.
Bell O; Keck School of Medicine, University of Southern California, Los Angeles, California.
Tan TY; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
Delrue MA; Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Québec, Canada.
Jurgens J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Barry BJ; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland.
Engle EC; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Savage SK; FDNA, Inc., Boston, Massachusetts.
Fleischer N; FDNA, Inc., Boston, Massachusetts.
Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California.
Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Oct; Vol. 179 (10), pp. 2075-2082. Date of Electronic Publication: 2019 Jul 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: MEDLINE
MeSH Terms :
DNA-Binding Proteins/*genetics
Nerve Tissue Proteins/*genetics
Transcription Factors/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Facies ; Female ; Humans ; Infant ; Male ; Phenotype ; Syndrome
Czasopismo naukowe
Tytuł :
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERERISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Calvo AS; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2160-2161.
Typ publikacji :
Published Erratum
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: PubMed not MEDLINE; MEDLINE
Tytuł :
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Autorzy :
van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA, USA.
Adachi-Fukuda M; Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
Alanay Y; School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Acibadem University, Istanbul, Turkey.
AlKindy A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
Baban A; Pediatric Cardiology and Cardiac Surgery Department, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
Bayat A; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark.
Beck-Wödl S; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
Berry K; Department of Medical Genetics, Shodair Hospital, Helena, MT, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bok LA; Department of Pediatrics, Màxima Medical Centre, Veldhoven, The Netherlands.
Brouwer AFJ; Department of Paediatrics, Nij Smellinghe Hospital, Drachten, The Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.
Canham N; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.; Cheshire and Merseyside Regional Genetics Service, Liverpool Women's Hospital, Crown Street, Liverpool, United Kingdom.
Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Chu YWY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Chung BHY; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
Dahan K; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
De Rademaeker M; Center for Medical Genetics, Vrije Universiteit Brussels, Brussels, Belgium.
Destree A; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Dudding-Byth T; Hunter Genetics and University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, Australia.
Earl R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Elcioglu N; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
Elias ER; Department of Pediatrics and Genetics, University of Colorado Denver School of Medicine, Aurora, CO, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.
Gener B; Department of Genetics, Cruces University Hospital, Biocruces Health Research Institute, Vizcayam, Spain.
Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Grasshoff U; Department of Molecular Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany.
Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), İstanbul, Turkey.
Kersseboom R; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Kilic E; Department of Pediatric Genetics, Hematology Oncology Research & Training Children's Hospital, Ankara, Turkey.
Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Lammers K; Department of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
Lederer D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
Lees M; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
López-González V; Sección de Genética Médica, Servicio de Pediatria, Hospital Clinico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.
Maas S; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Mancini GMS; Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.
Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
McKee S; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, Ireland.
Mehta S; East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom.
Metcalfe K; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Milunsky J; Center for Human Genetics Inc, Cambridge, MA, USA.
Mizuno S; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Moeschler JB; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.
Netzer C; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Oehl-Jaschkowitz B; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Olminkhof SNM; Willem Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Pasquier L; CRMR Déficiences intellectuelles, Service de Génétique Médicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
Pottinger C; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Riehmer V; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Robertson SP; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Roifman M; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada.
Rooryck C; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.
Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Sagiroglu MS; Genpute Computation Technologies Company, Istanbul, Turkey.
Sallevelt SCEH; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Sanchis Calvo A; Servicio de Pediatría, Hospital Universitario Doctor Peset, Valencia, Spain.
Simsek-Kiper PO; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Soares G; Jacinto de Magalhães Medical Genetics Center, Centro Hospitalar do Porto, Porto, Portugal.
Solaeche L; Departamento de neurometabólicas, Hospital Universitario Son Espases, Palma de Mallorca, Spain.
Sonmez FM; Karadeniz Technical University, Faculty of Medicine, Dept of Child Neurology, Retired Professor, Trabzon, Turkey.
Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, United Kingdom.
Steenbeek D; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.
Tanabe S; Division of Pediatrics, Yamagata Prefectural and Sakata Munici pal Hospital Organization Nihon-Kai General Hospital, Sakata, Japan.
Uctepe E; Enva Engineering, Ankara, Turkey.
Utine GE; Department of Pediatric Genetics, Ihsan Dogramaci Children's Hospital, Hacettepe University School of Medicine, Ankara, Turkey.
Veenstra-Knol HE; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme. ULB Center of Medical Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Vincent-Delorme C; Service de génétique clinique Guy Fontaine, CHRU de Lille-Hôpital Jeanne de Flandre, Lille, France.
Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wheeler P; Division of Genetics, Arnold Palmer Hospital, Orlando, FL, USA.
Wilson GN; KinderGenome Genetics, Medical City Hospital Dallas, Dallas, TX, USA.
Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Kosho T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Eichler E; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jun; Vol. 21 (6), pp. 1295-1307. Date of Electronic Publication: 2018 Nov 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: MEDLINE
MeSH Terms :
DNA-Binding Proteins/*genetics
DNA-Binding Proteins/*metabolism
Transcription Factors/*genetics
Transcription Factors/*metabolism
Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone/genetics ; Exome ; Face/abnormalities ; Female ; Genetic Association Studies/methods ; Genetic Variation/genetics ; Hand Deformities, Congenital/genetics ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/genetics ; Male ; Micrognathism/genetics ; Middle Aged ; Mutation ; Neck/abnormalities ; Penetrance
SCR Disease Name :
Coffin-Siris syndrome
Czasopismo naukowe
Tytuł :
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Autorzy :
Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Stephenson SEM; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Mustapha M; Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA.
Mensah MA; Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Lee WS; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Tankard RM; The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia.
Phelan DG; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Dowling C; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
Toler TL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
Agolini E; Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
Rinelli M; Laboratory of Medical Genetics, Department of Laboratories, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
Capolino R; Medical Genetics, Department of Pediatrics, IRCCS Bambino Gesù Children's Hospital, Rome 00165, Italy.
Martinelli D; Division of Metabolism, Department of Pediatric Subspecialties, IRCCS Bambino Gesù Children's Hospital Rome 00165, Italy.
Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome 00168, Italy.
Dumić M; Department of Pediatrics Rebro, University of Zagreb Medical School, Kispaticeva 12, 10 000 Zagreb, Croatia.
Reardon W; Department of Clinical Genetics, Our Lady's Children Hospital Crumlin, Dublin, D12, V004, Ireland.
Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX1 2ED, UK.
Leventer RJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia; Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Delatycki MB; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, The Netherlands.
Mundlos S; Institut für Medizinische Genetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.
Mortier G; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, B-2650 Antwerp (Edegem), Belgium.
Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Victoria 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, Victoria 3010, Australia.
Allen NJ; Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
Lockhart PJ; Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 914-924. Date of Electronic Publication: 2019 Apr 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Variation*
Deafness/*congenital
Genetic Diseases, X-Linked/*genetics
Genetic Diseases, X-Linked/*pathology
Glypicans/*genetics
Lower Extremity Deformities, Congenital/*genetics
Lower Extremity Deformities, Congenital/*pathology
Adult ; Child ; Child, Preschool ; Deafness/genetics ; Deafness/pathology ; Female ; Humans ; Infant ; Male ; Pedigree ; Phenotype ; Young Adult
SCR Disease Name :
Nasodigitoacoustic syndrome
Czasopismo naukowe
Tytuł :
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Autorzy :
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.
Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.
Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France.
Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA.
Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA.
van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.
van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.
Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy.
Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.
Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France.
van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.
van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands.
van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.
Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA.
van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands.
Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA.
Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA.
Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA.
Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA.
Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands.
Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.
Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA.
de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France.
Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy.
Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada.
Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy.
Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA.
Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA.
Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands.
Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands.
Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway.
Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA.
Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands.
Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway.
VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA.
Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK.
Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium.
Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 738-746. Date of Electronic Publication: 2019 Jan 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Behavior*
Genetic Variation*
Abnormalities, Multiple/*genetics
F-Box Proteins/*genetics
Intellectual Disability/*genetics
Protein-Arginine N-Methyltransferases/*genetics
Gene Deletion ; Humans ; Syndrome
Czasopismo naukowe
Tytuł :
Exploring the behavioral and cognitive phenotype of KBG syndrome.
Autorzy :
van Dongen LCM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.
Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands.
van der Veld WM; Behavioral Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands.
Vermeulen K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, The Netherlands.
Bos-Roubos AG; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.
Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen, Nijmegen, The Netherlands.; Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Stevig Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands.
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Źródło :
Genes, brain, and behavior [Genes Brain Behav] 2019 Apr; Vol. 18 (4), pp. e12553. Date of Electronic Publication: 2019 Feb 21.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-183X (Electronic) Linking ISSN: 1601183X NLM ISO Abbreviation: Genes Brain Behav. Subsets: MEDLINE
MeSH Terms :
Cognition*
Phenotype*
Abnormalities, Multiple/*physiopathology
Bone Diseases, Developmental/*physiopathology
Intellectual Disability/*physiopathology
Tooth Abnormalities/*physiopathology
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/psychology ; Adolescent ; Adult ; Aged ; Attention ; Bone Diseases, Developmental/genetics ; Bone Diseases, Developmental/psychology ; Child ; Executive Function ; Facies ; Female ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/psychology ; Intelligence ; Male ; Memory ; Middle Aged ; Repressor Proteins/genetics ; Social Behavior ; Tooth Abnormalities/genetics ; Tooth Abnormalities/psychology ; Visual Perception
SCR Disease Name :
KBG syndrome
Czasopismo naukowe
Tytuł :
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.
Autorzy :
van Dongen LCM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
Wingbermühle E; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.
Oomens W; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.
Bos-Roubos AG; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
Kleefstra T; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.
Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.; Centre of Excellence for Korsakoff and Alcohol-Related Cognitive Disorders, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.
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Źródło :
Frontiers in behavioral neuroscience [Front Behav Neurosci] 2017 Dec 19; Vol. 11, pp. 248. Date of Electronic Publication: 2017 Dec 19 (Print Publication: 2017).
Typ publikacji :
Journal Article
Journal Info :
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477952 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5153 (Print) Linking ISSN: 16625153 NLM ISO Abbreviation: Front Behav Neurosci Subsets: PubMed not MEDLINE
Czasopismo naukowe
Tytuł :
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Autorzy :
Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Twigg SRF; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
van Dooren MF; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Hoogeboom AJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
Günther S; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
Magielsen FJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
A Ramos-Arroyo M; Department of Medical Genetics, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Pamplona, Navarra, Spain.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
van der Spek PJ; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Stanier P; Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany.
Wilkie AOM; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
van den Ouweland AMW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Hurst JA; Clinical Genetics Department, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Oct; Vol. 25 (10), pp. 1126-1133. Date of Electronic Publication: 2017 Jul 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Gene Deletion*
Choanal Atresia/*genetics
Deafness/*congenital
Heart Defects, Congenital/*genetics
Ribonucleoprotein, U5 Small Nuclear/*genetics
Choanal Atresia/diagnosis ; Deafness/diagnosis ; Deafness/genetics ; Facies ; Female ; Heart Defects, Congenital/diagnosis ; Heterozygote ; Homozygote ; Humans ; Male ; Pedigree ; Promoter Regions, Genetic
SCR Disease Name :
Burn-Mckeown syndrome
Czasopismo naukowe
Tytuł :
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Autorzy :
Khandelwal KD; Department of Orthodontics and Craniofacial Biology, Radboud university medical center, Nijmegen, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud university medical center, Nijmegen, The Netherlands.
Boulanger C; Department of Pediatric Haematology and Oncology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Brichard B; Department of Pediatric Haematology and Oncology, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Sokal E; Université Catholique de Louvain, Cliniques Universitaires St Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, Brussels, Belgium.
Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Rinne T; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
van Beusekom E; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
Bloemen M; Department of Orthodontics and Craniofacial Biology, Radboud university medical center, Nijmegen, The Netherlands.
Vriend G; Centre for Molecular and Biomolecular Informatics, Radboud university medical center, Nijmegen, The Netherlands.
Revencu N; Centre for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
Carels CEL; Department of Orthodontics and Craniofacial Biology, Radboud university medical center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
van Bokhoven H; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Zhou H; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jul; Vol. 173 (7), pp. 1813-1820. Date of Electronic Publication: 2017 May 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: PubMed not MEDLINE
Czasopismo naukowe
Tytuł :
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
Autorzy :
Vermeulen K; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Nijmegen, The Netherlands.; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands.
de Boer A; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, Nijmegen, The Netherlands.; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands.
Janzing JGE; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands.
Koolen DA; Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud university medical Center, Nijmegen, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud university medical Center, Nijmegen, The Netherlands.
Willemsen MH; Department of Human Genetics, Radboud university medical Center, Nijmegen, The Netherlands.
Verhoef FM; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, Nijmegen, The Netherlands.
van Deurzen PAM; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, Nijmegen, The Netherlands.
van Dongen L; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
van Bokhoven H; Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud university medical Center, Nijmegen, The Netherlands.
Egger JIM; Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Behavioural Science Institute, Radboud University, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Centre for Cognition, Nijmegen, The Netherlands.
Staal WG; Karakter Child and Adolescent Psychiatry, University Centre, Nijmegen, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Nijmegen, The Netherlands.; Department of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands.
Kleefstra T; Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud university medical Center, Nijmegen, The Netherlands.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jul; Vol. 173 (7), pp. 1821-1830. Date of Electronic Publication: 2017 May 12.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am. J. Med. Genet. A Subsets: PubMed not MEDLINE
Czasopismo naukowe
Tytuł :
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Autorzy :
Phan M; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.
Conte F; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands.
Khandelwal KD; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Bartzela T; Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Center for Dental and Craniofacial Sciences, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
Rubini M; Department of Biomedical and Specialty Surgical Sciences, Medical Genetic Unit, University of Ferrara, Ferrara, Italy.
Zhou H; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands.
Carels CE; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. .; Department of Oral Health Sciences, Faculty of Medicine, KU Leuven and University Hospitals KU Leuven, Kapucijnenvoer, 7, 3000, Leuven, Belgium. .
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Źródło :
Human genetics [Hum Genet] 2016 Dec; Vol. 135 (12), pp. 1299-1327. Date of Electronic Publication: 2016 Oct 03.
Typ publikacji :
Journal Article; Review; Systematic Review
Journal Info :
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Anodontia/*genetics
Brain/*abnormalities
Cleft Lip/*genetics
Cleft Palate/*genetics
Anodontia/physiopathology ; Brain/physiopathology ; Cleft Lip/physiopathology ; Cleft Palate/physiopathology ; Gene Expression Regulation/genetics ; Gene Ontology ; Genotype ; Humans ; Organ Specificity ; Phenotype ; Protein Biosynthesis/genetics
SCR Disease Name :
Orofacial Cleft 1
Czasopismo naukowe
Tytuł :
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Autorzy :
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Khandelwal KD; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Dreesen K; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Oral Health Sciences, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Ludwig KU; Institute of Human Genetics, Department of Genomics, Life & Brain Center, University of Bonn, D-53127, Bonn, Germany.
Sullivan R; Faculty of Life Sciences and Dental School, University of Manchester, M13 9PT, Manchester, United Kingdom.
van Rooij IALM; Department for Health Evidence, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Thonissen M; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Swinnen S; Department of Oral Health Sciences, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Phan M; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Conte F; Radboud University, Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, 6500 HB, Nijmegen, The Netherlands.
Ishorst N; Institute of Human Genetics, Department of Genomics, Life & Brain Center, University of Bonn, D-53127, Bonn, Germany.
Gilissen C; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
RoaFuentes L; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
van de Vorst M; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Henkes A; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Steehouwer M; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
van Beusekom E; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Bloemen M; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Vankeirsbilck B; DNA facility, Center for Human Genetics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Bergé S; Department of Oral and Maxillofacial Surgery, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Hens G; Cleft Lip Palate Team and AGORA-Support Group, Departments of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery, and Orthodontics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Schoenaers J; Cleft Lip Palate Team and AGORA-Support Group, Departments of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery, and Orthodontics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Poorten VV; Cleft Lip Palate Team and AGORA-Support Group, Departments of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery, and Orthodontics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Roosenboom J; Cleft Lip Palate Team and AGORA-Support Group, Departments of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery, and Orthodontics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Verdonck A; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Cleft Lip Palate Team and AGORA-Support Group, Departments of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery, and Orthodontics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Devriendt K; Cleft Lip Palate Team and AGORA-Support Group, Departments of Otorhinolaryngology and Head and Neck Surgery, Maxillofacial Surgery, and Orthodontics, University Hospitals KU Leuven, 3000, Leuven, Belgium.; Center for Human Genetics, Department of Clinical Genetics, University Hospitals KU Leuven, 3000, Leuven, Belgium.
Roeleveldt N; Department for Health Evidence, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, Texas, USA.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, Texas, USA.; Texas Children's Hospital, Houston, TX 77030, Texas, USA.
de Ligt J; Hubrecht Institute, KNAW and University Medical Center Utrecht, 3508 AD, Utrecht, The Netherlands.
Von den Hoff JW; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Zhou H; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Radboud University, Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, 6500 HB, Nijmegen, The Netherlands.
Dixon J; Faculty of Life Sciences and Dental School, University of Manchester, M13 9PT, Manchester, United Kingdom.
Mangold E; Institute of Human Genetics, Biomedical Center, University of Bonn, D-53127, Bonn, Germany.
van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Dixon MJ; Faculty of Life Sciences and Dental School, University of Manchester, M13 9PT, Manchester, United Kingdom.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
Carels CEL; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Oral Health Sciences, University Hospitals KU Leuven, 3000, Leuven, Belgium.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Nov; Vol. 18 (11), pp. 1158-1162. Date of Electronic Publication: 2016 Mar 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info :
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet. Med. Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Anodontia/*genetics
Exome/*genetics
Low Density Lipoprotein Receptor-Related Protein-6/*genetics
Adolescent ; Anodontia/pathology ; Child ; Female ; Frameshift Mutation/genetics ; Humans ; Male ; Mutation, Missense/genetics ; Pedigree ; Sequence Analysis, DNA ; Wnt Signaling Pathway/genetics
Czasopismo naukowe
Tytuł :
Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.
Autorzy :
de Nijs T; Dept. of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Albuisson J; University Paris Descartes, Paris Sorbonne Cité, AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, INSERM U970, PARC, Paris, France.
Ockeloen CW; Dept. of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Legrand A; University Paris Descartes, Paris Sorbonne Cité, AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, INSERM U970, PARC, Paris, France.
Jeunemaitre X; University Paris Descartes, Paris Sorbonne Cité, AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, INSERM U970, PARC, Paris, France.
Schultze Kool LJ; Dept. of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands.
Riksen NP; Dept. of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
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Źródło :
International journal of cardiology [Int J Cardiol] 2016 Jun 01; Vol. 212, pp. 248-50. Date of Electronic Publication: 2016 Mar 19.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int. J. Cardiol. Subsets: MEDLINE
MeSH Terms :
5'-Nucleotidase/*genetics
Lower Extremity/*diagnostic imaging
Vascular Calcification/*diagnostic imaging
Adult ; Computed Tomography Angiography ; GPI-Linked Proteins/genetics ; Humans ; Male ; Sequence Analysis, DNA ; Vascular Calcification/genetics
Czasopismo naukowe
Tytuł :
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Autorzy :
Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Linda K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Beunders G; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Conta JH; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.
Fortuna AM; Unidade de Genética Médica, Centro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal.
Gillessen-Kaesbach G; Institut für Humangenetik, University of Luebeck, Luebeck, Germany.
Dugan S; Genetics Department, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA.
Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Abdul-Rahman OA; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.
Winesett HM; St Luke's Pediatric Associates, Duluth, MN, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY, USA.
Dalton M; Counties Manukau District Health Board, South Auckland, New Zealand.
Dimova PS; Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria.
Mattina T; Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy.
Prescott K; Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK.
Zhang HZ; Department of genetics, Yale University School of Medicine, New Haven, CT, USA.
Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Hehir-Kwa JY; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Willemsen MH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Jongmans MC; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Van der Aa N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Failla P; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
Barone C; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
Avola E; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
Brooks AS; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.
Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Firth HV; Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK.
Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Bird LM; Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA.
Masser-Frye D; Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA.
Friedman JR; Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA.
Sokunbi MA; Nacogdoches Pediatrics, Nacogdoches, TX, USA.
Dixit A; Clinical Genetics, Nottingham City Hospital, Nottingham, UK.
Splitt M; Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
Kukolich MK; Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Flórez J; Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain.
Nadif Kasri N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Thompson EM; South Australian Clinical Genetics Service, Women's and Children's Hospital; and Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia.
Gecz J; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Romano C; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
de Vries BB; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
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Corporate Authors :
DDD Study
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 May; Vol. 24 (5), pp. 652-9. Date of Electronic Publication: 2015 Aug 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Phenotype*
Polymorphism, Single Nucleotide*
Abnormalities, Multiple/*diagnosis
Intellectual Disability/*diagnosis
Nuclear Proteins/*genetics
Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Female ; Humans ; Intellectual Disability/genetics ; Male ; Middle Aged
SCR Disease Name :
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Autorzy :
Stessman HAF; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Willemsen MH; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: .
Fenckova M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Penn O; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Xiong B; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Wang T; The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Vives L; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Vogel I; Department of Clinical Genetics, Aarhus University Hospital, Skejby, 8000 Aarhus, Denmark.
Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
van der Burgt I; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen and University Medical Center Groningen, 9700 RB Groningen, the Netherlands.
Stumpel C; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Vles HS; Department of Neurologie, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Marcelis CM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Cantagrel V; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.
Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.
Nicouleau M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France.
Lyonnet S; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Imagine Institute, 75015 Paris, France; Paris Descartes University - Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Departments of Genetics, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.
Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.
Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA.
Coe BP; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA.
Romano C; Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.
Alberti A; Pediatrics & Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.
Grillo L; Laboratory of Medical Genetics, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.
Scuderi C; Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico Associazione Oasi Maria Santissima, 94018 Troina, Italy.
Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.
Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Solna, Sweden.
Guo H; The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
Xia K; The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China.
Piton A; Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire, 67400 Illkirch, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Gerard B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Genevieve D; Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hôpital Arnaud de Villeneuve, 34090 Montpellier, France.
Delobel B; Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul, Groupement des Hôpitaux de l'Institut Catholique de Lille, 59000 Lille, France.
Lehalle D; Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.
Perrin L; Service de Génétique Clinique, Hôpital Robert Debré, 75019 Paris, France.
Prieur F; Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Étienne, 42100 Saint-Étienne, France.
Thevenon J; Équipe EA4271-GAD, Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, Fédération Hospitalo-Universitaire TRANSLAD, 21079 Dijon, France.
Gecz J; Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.
Shaw M; Robinson Research Institute, University of Adelaide and Women's and Children's Hospital, North Adelaide SA 5006, Australia.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Keren B; Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France; INSERM UM75 and U1127, CNRS UMR7225, Université Pierre et Marie Curie (Paris 6) and Institut du Cerveau et de la Moelle épinière, 75013 Paris, France.
Jacquette A; Département de Génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France.
Schenck A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA. Electronic address: .
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Mar 03; Vol. 98 (3), pp. 541-552.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Autism Spectrum Disorder/*genetics
Intellectual Disability/*genetics
Transposases/*genetics
Adolescent ; Adult ; Animals ; Autism Spectrum Disorder/diagnosis ; Child ; Child, Preschool ; Cohort Studies ; Down-Regulation ; Drosophila/genetics ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Exome ; Female ; Gene Knockdown Techniques ; Genome-Wide Association Study ; Humans ; Infant ; Intellectual Disability/diagnosis ; Language Development Disorders/diagnosis ; Language Development Disorders/genetics ; Linear Models ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Mutation ; Phenotype ; Transcription Factors/genetics ; Transcription Factors/metabolism
Czasopismo naukowe
Tytuł :
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Autorzy :
Bramswig NC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany. .
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Czeschik JC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Smeitink J; Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.
Poll-The BT; Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Engels H; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.
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Źródło :
Human genetics [Hum Genet] 2015 Oct; Vol. 134 (10), pp. 1089-97. Date of Electronic Publication: 2015 Aug 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Craniofacial Abnormalities/*genetics
Ether-A-Go-Go Potassium Channels/*genetics
Fibromatosis, Gingival/*genetics
Hallux/*abnormalities
Hand Deformities, Congenital/*genetics
Intellectual Disability/*genetics
Nails, Malformed/*genetics
Thumb/*abnormalities
Abnormalities, Multiple/pathology ; Adolescent ; Child, Preschool ; Craniofacial Abnormalities/pathology ; Female ; Fibromatosis, Gingival/pathology ; Hallux/pathology ; Hand Deformities, Congenital/pathology ; Humans ; Intellectual Disability/pathology ; Mutation, Missense ; Nails, Malformed/pathology ; Thumb/pathology
SCR Disease Name :
Temple-Baraitser Syndrome; Zimmerman Laband syndrome
Czasopismo naukowe
Tytuł :
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Autorzy :
Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Cremer K; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Lichtenbelt KD; Department of Medical Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.
Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, the Netherlands.
Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Zink AM; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Becker J; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Wohlleber E; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Johannsen J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Alhaddad B; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
van Gassen KL; Department of Medical Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Engels H; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address: .
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2015 Sep 03; Vol. 97 (3), pp. 493-500.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Abnormalities, Multiple/*pathology
Chromosomal Proteins, Non-Histone/*genetics
Codon, Nonsense/*genetics
Intellectual Disability/*genetics
Phosphoproteins/*genetics
Speech Disorders/*genetics
Base Sequence ; Female ; Humans ; Male ; Molecular Sequence Data ; Sequence Analysis, DNA
Czasopismo naukowe

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