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CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate, Yuri A; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L; Sacoto, Maria J Guillen; Schnur, Rhonda E; Morrow, Michelle M; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro.
Afiliação
  • Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA. yazarate@uams.edu.
  • Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Abe K; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.
  • Oginuma M; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.
  • Harako S; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
  • Ishitani S; Department of Homeostatic Regulation, Division of Cellular and Molecular Biology, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.
  • Lehesjoki AE; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Ehmke N; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Horn D; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Holtgrewe M; Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Anderson K; Core Unit Bioinformatics - CUBI, Berlin Institute of Health, Berlin, Germany.
  • Viskochil D; Department of Pediatrics, University of Vermont Medical Center, Burlington, VT, USA.
  • Edgar-Zarate CL; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
  • Sacoto MJG; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
  • Schnur RE; GeneDx, Gaithersburg, MD, USA.
  • Morrow MM; GeneDx, Gaithersburg, MD, USA.
  • Sanchez-Valle A; GeneDx, Gaithersburg, MD, USA.
  • Pappas J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
  • Rabin R; NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA.
  • Muona M; NYU Grossman School of Medicine, Dept of Pediatrics, Clinical Genetic Services, New York, NY, USA.
  • Anttonen AK; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.
  • Platzer K; Blueprint Genetics, Helsinki, Finland.
  • Luppe J; Folkhälsan Research Center and University of Helsinki, Helsinki, Finland.
  • Gburek-Augustat J; Department of Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.
  • Kaname T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Okamoto N; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Mizuno S; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany.
  • Kaido Y; Department of Genome Medicine, National Center for Child Health and Developemt, Tokyo, Japan.
  • Ohkuma Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Hirose Y; Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan.
  • Ishitani T; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
  • Kosaki K; Laboratory of Gene Regulation, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
Genet Med ; 23(6): 1050-1057, 2021 06.
Article em En | MEDLINE | ID: mdl-33495529
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Idioma: En Ano de publicação: 2021 Tipo de documento: Article