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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina.
Afiliação
  • Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
  • Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Lin AE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Vegas N; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
  • Cho MT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Viot G; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Dimartino C; GeneDx, Gaithersburg, MD, USA.
  • Weisfeld-Adams JD; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Lessel D; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Joss S; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Li C; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
  • Gonzaga-Jauregui C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Zarate YA; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Ehmke N; McMaster University Medical Center, Hamilton, Ontario, Canada.
  • Horn D; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
  • Troyer C; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
  • Kant SG; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Lee Y; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Ishak GE; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
  • Leung G; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
  • Barone Pritchard A; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Yang S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Bend EG; Department of Radiology, University of Washington, Seattle, WA, USA.
  • Filippini F; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
  • Roadhouse C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Lebrun N; GeneDx, Gaithersburg, MD, USA.
  • Mehaffey MG; Greenwood Genetic Center, Greenwood, SC, USA.
  • Martin PM; PreventionGenetics, Marshfield, WI, USA.
  • Apple B; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Millan F; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Puk O; McMaster University Medical Center, Hamilton, Ontario, Canada.
  • Hoffer MJV; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.
  • Henderson LB; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • McGowan R; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Wentzensen IM; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
  • Pei S; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
  • Zahir FR; GeneDx, Gaithersburg, MD, USA.
  • Yu M; Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Gibson WT; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
  • Seman A; GeneDx, Gaithersburg, MD, USA.
  • Steeves M; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Murrell JR; GeneDx, Gaithersburg, MD, USA.
  • Luettgen S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
  • Francisco E; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Strom TM; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
  • Amlie-Wolf L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Kaindl AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Wilson WG; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
  • Halbach S; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Basel-Salmon L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Brain ; 143(1): 55-68, 2020 01 01.
Article em En | MEDLINE | ID: mdl-31834374
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Transativadores / Anormalidades Craniofaciais / Proteínas Supressoras de Tumor / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual / Malformações do Sistema Nervoso Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Transativadores / Anormalidades Craniofaciais / Proteínas Supressoras de Tumor / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual / Malformações do Sistema Nervoso Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Brain Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China