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Title:
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Authors:
Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Rosenfeld J; Baylor Genetics Laboratories, Houston, TX, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Baylor Genetics Laboratories, Houston, TX, USA.
Guo H; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Kim CN; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nordenskjold M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Gecz J; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Scatigno A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Maitz S; Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.
Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Schuhmann S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Pepper M; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Panjwani H; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Torti E; GeneDX, Gaithersburg, MD, USA.
Abid F; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Anselm I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Atwal P; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, FL, USA.
Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bhat G; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Cobian K; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.
Friedman J; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA, USA.
Wright MS; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Callewaert B; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
Petit F; Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.
Mathieu S; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Afenjar A; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Christensen CK; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
White KM; Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.
Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
Berger I; Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.; Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.
Espineli EJ; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Hansen LK; H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.
Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
Hughes S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Thiffault I; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.
Sullivan B; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Yan S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Keller K; Oregon Health & Science University, Corvallis, OR, USA.
Keren B; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Mignot C; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Basinger A; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Kukolich M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Philips M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Ortega L; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Drummond-Borg M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Lauridsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Sorensen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada.
Lopez-Rangel E; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Division of Developmental Pediatrics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.
Levy P; Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY, USA.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lotze T; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
Madan-Khetarpal S; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Sebastian J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vento J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vats D; Kaiser Permanente Southern California, Los Angeles, CA, USA.
Benman LM; The Permanente Medical Group, Oakland, CA, USA.
Mckee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Muss C; Al Dupont Hospital for Children, Wilmington, DE, USA.
Pappas J; NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.
Peeters H; Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
Romano C; Oasi Research Institute-IRCCS, Troina, Italy.
Elia M; Oasi Research Institute-IRCCS, Troina, Italy.
Galesi O; Oasi Research Institute-IRCCS, Troina, Italy.
Simon MEH; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
Simpson K; Rare Disease Institute, Children's National Health System, Washington, DC, USA.
Stratton R; Department of Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Syed S; Department of Pediatric Gastroenterology, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Thevenon J; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebrón, Barcelona, Spain.
Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.
Vitobello A; UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
Bournez M; Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Faivre L; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Earl RK; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Nowakowski T; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
Bernier RA; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. .; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. .
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Corporate Authors:
CAUSES Study
SPARK Consortium
Source:
Genome medicine [Genome Med] 2021 Apr 19; Vol. 13 (1), pp. 63. Date of Electronic Publication: 2021 Apr 19.
Publication Type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Heterogeneous-Nuclear Ribonucleoproteins/*genetics
Mutation/*genetics
Neurodevelopmental Disorders/*genetics
Brain/metabolism ; DNA Copy Number Variations/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Variation ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Humans ; Inheritance Patterns/genetics ; Mutation, Missense/genetics ; Phenotype ; RNA Processing, Post-Transcriptional/genetics ; Single-Cell Analysis
Academic Journal
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Title:
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Authors:
Liao J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Coffman KA; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Locker J; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Padiath QS; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Nmezi B; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Filipink RA; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Sathanoori M; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Madan-Khetarpal S; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
McGuire M; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Moran R; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
Friedman N; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH, USA.
Hoffner L; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Rajkovic A; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Yatsenko SA; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Surti U; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.; Magee Womens Research Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
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Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Apr; Vol. 9 (4), pp. e1647. Date of Electronic Publication: 2021 Mar 05.
Publication Type:
Case Reports; Journal Article
MeSH Terms:
Regulatory Sequences, Nucleic Acid*
Chorea/*genetics
Thyroid Nuclear Factor 1/*genetics
Adolescent ; Child ; Chorea/pathology ; Chromosomes, Human, Pair 14/genetics ; Conserved Sequence ; Female ; Humans ; Male ; Pedigree ; Sequence Deletion
Academic Journal
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Title:
Ocular findings of albinism in DYRK1A- related intellectual disability syndrome.
Authors:
Ernst J; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; Medical University of Warsaw , Warsaw, Poland.
Alabek ML; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Eldib A; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Madan-Khetarpal S; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA.
Sebastian J; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Bhatia A; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA.; UPMC Radiology Department at Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Liasis A; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.
Nischal KK; UPMC Eye Center , Pittsburgh, PA, USA.; Ophthalmology Departement, UPMC Children's Hospital of Pittsburgh , Pittsburgh, PA, USA.; School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA.
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Source:
Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 650-655. Date of Electronic Publication: 2020 Aug 24.
Publication Type:
Case Reports; Journal Article
MeSH Terms:
Haploinsufficiency*
Albinism/*pathology
Intellectual Disability/*pathology
Protein Serine-Threonine Kinases/*genetics
Protein-Tyrosine Kinases/*genetics
Albinism/complications ; Albinism/genetics ; Evoked Potentials, Visual ; Female ; Humans ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Retrospective Studies ; Syndrome ; Dyrk Kinases
Academic Journal
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Title:
Developmental loss of NMDA receptors results in supernumerary forebrain neurons through delayed maturation of transit-amplifying neuroblasts.
Authors:
Napoli, Amalia J. (AUTHOR)
Laderwager, Stephanie (AUTHOR)
Zoodsma, Josiah D. (AUTHOR)
Biju, Bismi (AUTHOR)
Mucollari, Olgerta (AUTHOR)
Schubel, Sarah K. (AUTHOR)
Aprea, Christieann (AUTHOR)
Sayed, Aaliya (AUTHOR)
Morgan, Kiele (AUTHOR)
Napoli, Annelysia (AUTHOR)
Flanagan, Stephanie (AUTHOR)
Wollmuth, Lonnie P. (AUTHOR)
Sirotkin, Howard I. (AUTHOR)
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Source:
Scientific Reports. 2/9/2024, Vol. 14 Issue 1, p1-22. 22p.
Academic Journal
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Title:
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
Authors:
Ghaloul-Gonzalez L; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA. .; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. .
Mohsen AW; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Karunanidhi A; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Seminotti B; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Chong H; Division of Pulmonology, Allergy and Immunology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Vockley CW; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Reyes-Múgica M; Division of Pediatric Pathology, Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Vander Lugt MT; Division of Blood and Marrow Transplantation and Cellular Therapies, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Vockley J; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
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Source:
Scientific reports [Sci Rep] 2019 Oct 31; Vol. 9 (1), pp. 15739. Date of Electronic Publication: 2019 Oct 31.
Publication Type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Adenylate Kinase/*genetics
Leukopenia/*diagnosis
Mitochondria/*metabolism
Severe Combined Immunodeficiency/*diagnosis
Adenylate Kinase/deficiency ; Bone Marrow/pathology ; Cell Membrane Permeability ; Child, Preschool ; Energy Metabolism ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Homozygote ; Humans ; Leukopenia/genetics ; Male ; Mitochondrial Membranes/metabolism ; Oxygen Consumption ; Pedigree ; Polymorphism, Single Nucleotide ; Reactive Oxygen Species/metabolism ; Severe Combined Immunodeficiency/genetics ; Exome Sequencing
SCR Disease Name:
Reticular dysgenesis
Academic Journal
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Title:
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Authors:
Kim HG; 1Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Rosenfeld JA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
Scott DA; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
Bénédicte G; 4Laboratoires de Diagnostic Génétique, Unité de génétique moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France.
Labonne JD; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
Brown J; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.
McGuire M; Baylor Genetic Laboratories, Houston, TX USA.
Mahida S; 7Kennedy Krieger Institute, Baltimore, MD USA.
Naidu S; 7Kennedy Krieger Institute, Baltimore, MD USA.
Gutierrez J; 3Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX USA.
Lesca G; 8Department of Medical Genetics, Lyon University Hospital, Lyon, France.
des Portes V; 9Department of Pediatric Neurology, Lyon University Hospital, Lyon, France.
Bruel AL; 10Équipe Génétique des Anomalies du Développement (GAD), INSERM, Dijon, France.
Sorlin A; Centre de Génétique, CHU Dijon Bourgogne, Dijon, France.
Xia F; 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
Capri Y; Service de Génétique Clinique, CHU Robert Debré, Paris, France.
Muller E; 13Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA USA.
McKnight D; 14GeneDx, Gaithersburg, MD USA.
Torti E; 14GeneDx, Gaithersburg, MD USA.
Rüschendorf F; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
Hummel O; 15Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
Islam Z; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
Kolatkar PR; 16Diabetes Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Doha, Qatar.
Layman LC; 5Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics & Gynecology, Augusta University, Augusta, GA USA.; 17Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA USA.
Ryu D; 18Department of Statistics and Actuarial Science, Northern Illinois University, DeKalb, IL USA.
Kong IK; 19Department of Animal Science, Division of Applied Life Science (BK21plus), Gyeongsang National University, Jinju, Korea.
Madan-Khetarpal S; 20Pediatric Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA USA.
Kim CH; 21Department of Biology, Chungnam National University, Daejeon, Korea.
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Source:
Molecular autism [Mol Autism] 2019 Oct 22; Vol. 10, pp. 35. Date of Electronic Publication: 2019 Oct 22 (Print Publication: 2019).
Publication Type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Behavior*
Autistic Disorder/*genetics
Craniofacial Abnormalities/*genetics
Epilepsy/*genetics
Histone Deacetylases/*genetics
Intellectual Disability/*genetics
Muscle Hypotonia/*genetics
Adolescent ; Amino Acid Sequence ; Autistic Disorder/complications ; Brain/metabolism ; Child ; Child, Preschool ; Craniofacial Abnormalities/complications ; Epilepsy/complications ; Female ; Histone Deacetylases/chemistry ; Histone Deacetylases/metabolism ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/complications ; Male ; Muscle Hypotonia/complications ; Mutation/genetics ; Protein Domains ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Syndrome
Academic Journal
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Title:
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
Authors:
Seymour, Heather (AUTHOR)
Feben, Candice (AUTHOR)
Nevondwe, Patracia (AUTHOR)
Kerr, Robyn (AUTHOR)
Spencer, Careni (AUTHOR)
Mudau, Maria (AUTHOR)
Honey, Engela (AUTHOR)
Lombard, Zane (AUTHOR)
Krause, Amanda (AUTHOR)
Carstens, Nadia (AUTHOR)
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Source:
Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-6. 6p.
Academic Journal
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Title:
Latent transforming growth factor beta binding protein 4: A regulator of mitochondrial function in acute kidney injury.
Authors:
Neikirk, Kit (AUTHOR)
Ume, Adaku C. (AUTHOR)
Prasad, Praveena (AUTHOR)
Marshall, Andrea G. (AUTHOR)
Rockwood, Jananie (AUTHOR)
Wenegieme, Tara‐Yesomi (AUTHOR)
McMichael, Kelia E. (AUTHOR)
McReynolds, Melanie R. (AUTHOR)
Williams, Clintoria R. (AUTHOR)
Hinton, Antentor (AUTHOR)
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Source:
Aging Cell. Dec2023, Vol. 22 Issue 12, p1-6. 6p.
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Authors:
Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. .
McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Streff HE; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Gripp KW; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Blesson A; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Powell-Hamilton N; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Tusi J; Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA.
Stevenson DA; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Farrelly E; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, USA.
McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Hummel M; Department of Pediatrics, Section of Medical Genetics, West Virginia University Health Sciences Center, Morgantown, WV, USA.
Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Infante E; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Miszalski-Jamka K; Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland.
Jefferies JL; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Nugent KM; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.
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Corporate Authors:
Members of the Undiagnosed Diseases Network
Source:
Genome medicine [Genome Med] 2017 Aug 14; Vol. 9 (1), pp. 73. Date of Electronic Publication: 2017 Aug 14.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation*
Phenotype*
CDC2 Protein Kinase/*genetics
Face/*abnormalities
Heart Defects, Congenital/*metabolism
Intellectual Disability/*metabolism
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Syndrome
Academic Journal
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Title:
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
Authors:
Hu J; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Ou Z; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Infante E; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Kochmar SJ; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Madan-Khetarpal S; Department of Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224 USA.
Hoffner L; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
Parsazad S; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.
Surti U; Center for Clinical Genetics and Genomics, Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC, Pittsburgh, PA 15213 USA.; Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213 USA.
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Source:
Molecular cytogenetics [Mol Cytogenet] 2017 Jun 19; Vol. 10, pp. 24. Date of Electronic Publication: 2017 Jun 19 (Print Publication: 2017).
Publication Type:
Case Reports
Report
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Title:
In Vitro and In Vivo Chaperone Effect of (R)-2-amino-6-(1R, 2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydropterin-4(3H)-one on the C1473G Mutant Tryptophan Hydroxylase 2.
Authors:
Arefieva, Alla B. (AUTHOR)
Komleva, Polina D. (AUTHOR)
Naumenko, Vladimir S. (AUTHOR)
Khotskin, Nikita V. (AUTHOR)
Kulikov, Alexander V. (AUTHOR)
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Source:
Biomolecules (2218-273X). Oct2023, Vol. 13 Issue 10, p1458. 14p.
Academic Journal
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Title:
An association study of cyclase‐associated protein 2 and frailty.
Authors:
Pelucchi, Silvia (AUTHOR)
Macchi, Chiara (AUTHOR)
D'Andrea, Laura (AUTHOR)
Rossi, Paolo Dionigi (AUTHOR)
Speciani, Michela Carola (AUTHOR)
Stringhi, Ramona (AUTHOR)
Ruscica, Massimiliano (AUTHOR)
Arosio, Beatrice (AUTHOR)
Di Luca, Monica (AUTHOR)
Cesari, Matteo (AUTHOR)
Edefonti, Valeria (AUTHOR)
Marcello, Elena (AUTHOR)
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Source:
Aging Cell. Sep2023, Vol. 22 Issue 9, p1-5. 5p.
Academic Journal
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Title:
3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Authors:
Bauleo, Alessia (AUTHOR)
Pace, Vincenza (AUTHOR)
Montesanto, Alberto (AUTHOR)
De Stefano, Laura (AUTHOR)
Brando, Rossella (AUTHOR)
Puntorieri, Domenica (AUTHOR)
Cento, Luca (AUTHOR)
Genuardi, Maurizio (AUTHOR)
Falcone, Elena (AUTHOR)
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Source:
Molecular Genetics & Genomic Medicine. Apr2023, Vol. 11 Issue 4, p1-7. 7p.
Academic Journal
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Title:
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.
Authors:
Serra, Gregorio (AUTHOR)
Antona, Vincenzo (AUTHOR)
Cimador, Marcello (AUTHOR)
Collodoro, Giorgia (AUTHOR)
Guida, Marco (AUTHOR)
Piro, Ettore (AUTHOR)
Schierz, Ingrid Anne Mandy (AUTHOR)
Verde, Vincenzo (AUTHOR)
Giuffrè, Mario (AUTHOR)
Corsello, Giovanni (AUTHOR)
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Source:
Italian Journal of Pediatrics. 2/9/2023, Vol. 49 Issue 1, p1-8. 8p.
Academic Journal
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Title:
Discovery of Hepatotoxic Equivalent Markers and Mechanism of Polygonum multiflorum Thunb. by Metabolomics Coupled with Molecular Docking.
Authors:
Zhang, Yinhuan (AUTHOR)
Liu, Lirong (AUTHOR)
Feng, Menghan (AUTHOR)
Wu, Hao (AUTHOR)
Dai, Yihang (AUTHOR)
Jia, Zhixin (AUTHOR)
Fang, Cong (AUTHOR)
Liu, Mingyan (AUTHOR)
Yan, Xiaoning (AUTHOR)
Zhu, Meixia (AUTHOR)
Huang, Beibei (AUTHOR)
Qu, Biqiong (AUTHOR)
Xiao, Hongbin (AUTHOR)
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Source:
Molecules. Jan2023, Vol. 28 Issue 1, p25. 25p.
Academic Journal
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Title:
Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
Authors:
Pollak, Rebecca M. (AUTHOR)
Pincus, Jordan E. (AUTHOR)
Burrell, T. Lindsey (AUTHOR)
Cubells, Joseph F. (AUTHOR)
Klaiman, Cheryl (AUTHOR)
Murphy, Melissa M. (AUTHOR)
Saulnier, Celine A. (AUTHOR)
Walker, Elaine F. (AUTHOR)
White, Stormi Pulver (AUTHOR)
Mulle, Jennifer G. (AUTHOR)
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Source:
Molecular Autism. 12/24/2022, Vol. 13 Issue 1, p1-14. 14p.
Academic Journal
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Title:
High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Authors:
Yıldız Bölükbaşı, Esra (AUTHOR)
Karolak, Justyna A. (AUTHOR)
Szafranski, Przemyslaw (AUTHOR)
Gambin, Tomasz (AUTHOR)
Willard, Nicholas (AUTHOR)
Abman, Steven H. (AUTHOR)
Galambos, Csaba (AUTHOR)
Kinsella, John P. (AUTHOR)
Stankiewicz, Paweł (AUTHOR)
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Source:
Molecular Genetics & Genomic Medicine. Nov2022, Vol. 10 Issue 11, p1-9. 9p.
Academic Journal
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Title:
Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.
Authors:
Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Madan-Khetarpal S
Serrano Russi AH
Kochmar S
Deward SJ
Sathanoori M
Surti U
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Source:
Genetics research international [Genet Res Int] 2011; Vol. 2011, pp. 185271. Date of Electronic Publication: 2011 Jul 17.
Publication Type:
Case Reports
Report
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