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Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Autorzy :
Park JH; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden.; Department of General Pediatrics, University of Münster, Münster, Germany.
Mealer RG; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, Massachusetts, USA.; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Hoffmann S; Zentrum für Sozial- und Neuropädiatrie, Vivantes Klinikum Neukölln, Berlin, Germany.
Grüneberg M; Department of General Pediatrics, University of Münster, Münster, Germany.
Biskup S; CeGAT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
Fobker M; Center for Laboratory Medicine, University Hospital Münster, Münster, Germany.
Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.
Mangels U; Department of General Pediatrics, University of Münster, Münster, Germany.
Reunert J; Department of General Pediatrics, University of Münster, Münster, Germany.
Rust S; Department of General Pediatrics, University of Münster, Münster, Germany.
Schoof J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.
Schwanke C; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana, USA.
Smoller JW; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Stanley Center for Psychiatric Research at Broad Institute of Harvard/MIT, Cambridge, Massachusetts, USA.
Cummings RD; National Center for Functional Glycomics, Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Marquardt T; Department of General Pediatrics, University of Münster, Münster, Germany.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1370-1381. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Autorzy :
Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Kuster A; Department of Neurometabolism, University Hospital of Nantes, Nantes, France.; INRAE, UMR1280, PhAN, Nantes Université, Nantes, France.
Laugwitz L; Institut für Medizinische Genetik und Angewandte Genomik, Universitätsklinikum, University of Tübingen, Tübingen, Germany.
Larson AA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.
Landry AP; Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan.
Ellwood-Digel L; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.
Mirsky DM; Department of Radiology, University of Colorado, and Children's Hospital Colorado, Aurora, Colorado.
Dimmock D; Rady Children's Institute for Genomic Medicine, San Diego, California.
Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Jiang H; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.
MacLean KN; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.
Styren K; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Schoof J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Goujon L; Department of Neurometabolism, University Hospital of Nantes, Nantes, France.; Service de Génétique Clinique, University Hospital of Rennes, Rennes, France.
Lefrancois T; Pediatric Radiology, University Hospital of Nantes, Nantes, France.
Friederich M; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.
Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.
Banerjee R; Department of Biological Chemistry, University of Michigan, Ann Arbor, Michigan.
Haack TB; INRAE, UMR1280, PhAN, Nantes Université, Nantes, France.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado.
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Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Sep; Vol. 43 (5), pp. 1024-1036. Date of Electronic Publication: 2020 Apr 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Autorzy :
Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Sosicka P; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Agadi S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Barone R; Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
Botto LD; Departments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
Burton JE; Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.
Carlston C; Department of Pathology, University of Utah, Salt Lake City, Utah.
Chung BH; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Brisbane, Australia.
Dipple KM; Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.; Department of Human Genetics, UCLA, Los Angeles, California.
Dorrani N; Department of Pediatrics, UCLA, Los Angeles, California.
Dobyns WB; Departments of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Epstein L; Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland.
Garozzo D; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
Hammer TB; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.
Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Héron D; APHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.
Herzog M; Department of Human Genetics, UCLA, Los Angeles, California.
Hoganson GE; Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.
Hunter JM; Ambry Genetics, Aliso Viejo, California.
Jain M; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.
Juusola J; GeneDx, Gaithersburg, Maryland.
Lakhani S; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.
Lee H; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, California.
Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Lewis K; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.
Longo N; Departments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
Lourenço CM; Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil.
Mak CCY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
McKnight D; GeneDx, Gaithersburg, Maryland.
Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
Mignot C; APHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.
Mirzaa G; Departments of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Mitchell W; Neurology Division Children's Hospital Los Angeles, Los Angeles, California.; Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, California.
Muhle H; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany.
Nelson SF; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, California.; Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, California.
Olczak M; Laboratory of Biochemistry, Faculty of Biotechnology, University of Wroclaw, Wroclaw, Poland.
Palmer CGS; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, California.; Institute for Society and Genetics, UCLA, Los Angeles, California.
Partikian A; Departments of Pediatrics & Neurology, Keck School of Medicine of University of Southern California, Los Angeles, California.
Patterson MC; Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Quinonez SC; Division of Genetics, Department of Pediatrics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan.
Regan BM; The University of Melbourne, Austin Health, Melbourne, Australia.
Ross ME; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.
Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland.
Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong SAR.
Scheffer IE; The University of Melbourne, Austin Health, Melbourne, Australia.; The University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia.
Segal D; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.; Department of Pediatrics, Division of Child Neurology, Weill Cornell Medicine, New York, New York.
Singhal NS; Neurology & Pediatrics, University of California, San Francisco, California.
Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, University of Genoa, Genova, Italy.
Sturiale L; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.
Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, UK.
Tang S; Ambry Genetics, Aliso Viejo, California.
Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Columbia, Washington.
Willis M; Department of Pediatrics, Naval Medical Center, San Diego, California.
Wolfe LA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland.
Yang H; GeneDx, Gaithersburg, Maryland.
Yano S; Department of Pediatrics, Genetics Division, LAC+USC Medical Center, University of Southern California, Los Angeles, California.
Powis Z; Ambry Genetics, Aliso Viejo, California.
Suchy SF; Ambry Genetics, Aliso Viejo, California.
Rosenfeld JA; GeneDx, Gaithersburg, Maryland.
Edmondson AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Grunewald S; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Freeze HH; Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.
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Źródło :
Human mutation [Hum Mutat] 2019 Jul; Vol. 40 (7), pp. 908-925. Date of Electronic Publication: 2019 Apr 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Congenital Disorders of Glycosylation/*genetics
Monosaccharide Transport Proteins/*genetics
Monosaccharide Transport Proteins/*metabolism
Uridine Diphosphate Galactose/*metabolism
Animals ; Biopsy ; CHO Cells ; Cells, Cultured ; Congenital Disorders of Glycosylation/metabolism ; Congenital Disorders of Glycosylation/pathology ; Cricetulus ; Female ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Autorzy :
Vals MA; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
Ashikov A; Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
Ilves P; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Loorits D; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Zeng Q; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland.
Barone R; Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Department of Clinical and Experimental Medicine, Referral Centre for Inherited Metabolic Diseases, University of Catania, Catania, Italy.
Huijben K; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
Diogo L; Child Developmental Center, Hospital Pediátrico, Center for Inherited Metabolic Diseases, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
Greenwood RS; Department of Neurology, University of North Carolina School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
Grunewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.
van Hasselt PM; Division Pediatrics, Metabolic Diseases, Wilhelmina Children's Hospital (Part of UMC Utrecht), Utrecht, The Netherlands.
van de Kamp JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Mancini G; Department of Clinical Genetics, Erasmus MC University Medical Centre, Rotterdam, The Netherlands.
Okninska A; Clinic of Children and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.
Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Rudd PM; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland.
Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Salvarinova R; Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, UBC BC Children's Hospital Research Institute, Vancouver, Canada.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Wolf NI; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.
Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Lefeber DJ; Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
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Corporate Authors :
EPGEN Study; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Źródło :
Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 553-564. Date of Electronic Publication: 2019 Feb 11.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Brain Diseases/*pathology
Congenital Disorders of Glycosylation/*genetics
Congenital Disorders of Glycosylation/*pathology
Monosaccharide Transport Proteins/*genetics
Spasms, Infantile/*pathology
Adolescent ; Atrophy ; Child ; Child, Preschool ; Female ; Glycosylation ; Humans ; Infant ; Internationality ; Magnetic Resonance Imaging ; Male ; Mass Spectrometry ; Mutation ; Young Adult
Czasopismo naukowe
Tytuł :
Philip D. Pallister of Montana.
Autorzy :
Opitz JM; Departments of Pediatrics (Medical Genetics), Pathology, Human Genetics, Obstetrics-Gynecology, University of Utah School of Medicine, Salt Lake City, Utah.
Mullen P; Department of History, Montana State University, Bozeman, Montana.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jan; Vol. 179 (1), pp. 9-12. Date of Electronic Publication: 2018 Dec 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
Autorzy :
Johnson JP; Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA.
Beischel L; Montana Department of Public Health and Human Services, Helena, MT, USA.
Schwanke C; Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA.
Styren K; Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA.
Crunk A; GeneDx, Gaithersburg, MD, USA.
Schoof J; Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, PO Box 5539, Helena, MT, 59604-5539, USA. .
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Źródło :
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2018 Jun; Vol. 35 (6), pp. 985-992. Date of Electronic Publication: 2018 Jun 24.
Typ publikacji :
Journal Article
MeSH Terms :
Prenatal Diagnosis*
Beckwith-Wiedemann Syndrome/*genetics
Genomic Imprinting/*genetics
Reproductive Techniques, Assisted/*adverse effects
Beckwith-Wiedemann Syndrome/epidemiology ; Beckwith-Wiedemann Syndrome/physiopathology ; DNA Methylation/genetics ; Female ; Fertilization in Vitro ; Fetus/physiopathology ; Humans ; Male ; Pregnancy
Czasopismo naukowe

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