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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R Frank; Baralle, Diana; Mancini, Grazia M S; Conway, Simon J; Xia, Fan; Chen, Zhao; Meng, Linyan; Mihajlovic, Ljubisa; Marmorstein, Ronen; Lyon, Gholson J.
Afiliação
  • Cheng H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gottlieb L; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Marchi E; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Kleyner R; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
  • Bhardwaj P; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
  • Rope AF; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
  • Rosenheck S; Kaiser Permanente Center for Health Research, Portland, OR 97227, USA.
  • Moutton S; Genome Medical, South San Francisco, CA 94080, USA.
  • Philippe C; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
  • Eyaid W; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
  • Alkuraya FS; Génétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France.
  • Toribio J; Génétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France.
  • Mena R; Laboratoire de Génétique, Innovation Diagnostic Génomique des Maladies Rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire, Dijon 21070, France.
  • Prada CE; King Abdulaziz Medical City, King Saud Bin AbdulAziz University-Health Science, King Abdullah International Medical Research Center, Riyadh 11426, Saudi Arabia.
  • Stessman H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Bernier R; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
  • Wermuth M; Division of Cardiology, CEDIMAT, Santo Domingo 51000, Dominican Republic.
  • Kauffmann B; Neonatal Intensive Care Unit, Centro de Obstetricia y Ginecologia, Santo Domingo, Dominican Republic.
  • Blaumeiser B; Division Of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Kooy RF; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
  • Baralle D; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
  • Mancini GMS; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.
  • Conway SJ; Department of Psychiatry, University of Washington, Seattle, WA 98195, USA.
  • Xia F; Klinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weßling-Str.1. in 28211 Bremen, Germany.
  • Chen Z; Klinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weßling-Str.1. in 28211 Bremen, Germany.
  • Meng L; University and University Hospital of Antwerp, Antwerp, Belgium.
  • Mihajlovic L; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.
  • Marmorstein R; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK.
  • Lyon GJ; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Hum Mol Genet ; 28(17): 2900-2919, 2019 09 01.
Article em En | MEDLINE | ID: mdl-31127942
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Biomarcadores / Predisposição Genética para Doença / Estudos de Associação Genética / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Biomarcadores / Predisposição Genética para Doença / Estudos de Associação Genética / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido