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Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Kuo, Molly E; Theil, Arjan F; Kievit, Anneke; Malicdan, May Christine; Introne, Wendy J; Christian, Thomas; Verheijen, Frans W; Smith, Desiree E C; Mendes, Marisa I; Hussaarts-Odijk, Lidia; van der Meijden, Eric; van Slegtenhorst, Marjon; Wilke, Martina; Vermeulen, Wim; Raams, Anja; Groden, Catherine; Shimada, Shino; Meyer-Schuman, Rebecca; Hou, Ya Ming; Gahl, William A; Antonellis, Anthony; Salomons, Gajja S; Mancini, Grazia M S.
Afiliação
  • Kuo ME; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Theil AF; Department of Molecular Genetics, Oncode Institute, Erasmus Medical Center, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 CN Rotterdam, the Netherlands.
  • Kievit A; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
  • Malicdan MC; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Introne WJ; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Christian T; Department of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Verheijen FW; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
  • Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center and Amsterdam Gastroenterology and Metabolism, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands.
  • Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center and Amsterdam Gastroenterology and Metabolism, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands.
  • Hussaarts-Odijk L; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
  • van der Meijden E; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
  • van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
  • Wilke M; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
  • Vermeulen W; Department of Molecular Genetics, Oncode Institute, Erasmus Medical Center, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 CN Rotterdam, the Netherlands.
  • Raams A; Department of Molecular Genetics, Oncode Institute, Erasmus Medical Center, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015 CN Rotterdam, the Netherlands.
  • Groden C; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Shimada S; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Meyer-Schuman R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
  • Hou YM; Department of Biochemistry and Molecular Biochemistry, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Gahl WA; Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Antonellis A; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic
  • Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Center and Amsterdam Gastroenterology and Metabolism, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HZ Amsterdam, the Netherlands; Genetic Metabolic Diseases, Amsterdam University Medical Center, University o
  • Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Am J Hum Genet ; 104(3): 520-529, 2019 03 07.
Article em En | MEDLINE | ID: mdl-30824121
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Deficiências do Desenvolvimento / Aminoacil-tRNA Sintetases / Doenças do Cabelo / Microcefalia / Mutação / Doenças da Unha Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Deficiências do Desenvolvimento / Aminoacil-tRNA Sintetases / Doenças do Cabelo / Microcefalia / Mutação / Doenças da Unha Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos