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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Dobyns, William B; Aldinger, Kimberly A; Ishak, Gisele E; Mirzaa, Ghayda M; Timms, Andrew E; Grout, Megan E; Dremmen, Marjolein H G; Schot, Rachel; Vandervore, Laura; van Slegtenhorst, Marjon A; Wilke, Martina; Kasteleijn, Esmee; Lee, Arthur S; Barry, Brenda J; Chao, Katherine R; Szczaluba, Krzysztof; Kobori, Joyce; Hanson-Kahn, Andrea; Bernstein, Jonathan A; Carr, Lucinda; D'Arco, Felice; Miyana, Kaori; Okazaki, Tetsuya; Saito, Yoshiaki; Sasaki, Masayuki; Das, Soma; Wheeler, Marsha M; Bamshad, Michael J; Nickerson, Deborah A; Engle, Elizabeth C; Verheijen, Frans W; Doherty, Dan; Mancini, Grazia M S.
Afiliação
  • Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Neurology, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: wbd@uw.edu.
  • Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Radiology, University of Washington, Seattle, WA 98195, USA.
  • Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Grout ME; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Dremmen MHG; Department of Radiology, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands; Division of Pediatric Radiology, Sophia Children's Hospital, Rotterdam 3015 CN, the Netherlands.
  • Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Vandervore L; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands.
  • van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Kasteleijn E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Lee AS; Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Barry BJ; Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.
  • Chao KR; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw 02-106, Poland.
  • Kobori J; Department of Genetics, Permanente Medical Group, San Jose, CA 95123, USA.
  • Hanson-Kahn A; Department of Genetics, Stanford School of Medicine, Stanford, CA 94305, USA; Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA.
  • Bernstein JA; Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA.
  • Carr L; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
  • Miyana K; Department of Pediatrics, Japanese Red Cross Medical Center, Shibuya, Tokyo, Japan.
  • Okazaki T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
  • Saito Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Tottori, Japan.
  • Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Das S; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
  • Wheeler MM; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
  • Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA.
  • Engle EC; Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department Ophthalmology, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115,
  • Verheijen FW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands.
  • Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 CN, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.
Am J Hum Genet ; 103(6): 1009-1021, 2018 12 06.
Article em En | MEDLINE | ID: mdl-30471716
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Zinco / Movimento Celular / Sequência Conservada / Orientação de Axônios / Proteínas dos Microfilamentos / Mutação / Neurônios Tipo de estudo: Guideline Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos
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: Zinco / Movimento Celular / Sequência Conservada / Orientação de Axônios / Proteínas dos Microfilamentos / Mutação / Neurônios Tipo de estudo: Guideline Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos