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Defining the phenotypical spectrum associated with variants in TUBB2A.
Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J; Mirzaa, Ghayda; Dobyns, William B; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C; Stouffs, Katrien.
Afiliação
  • Brock S; Department of Pathology, Universitair Ziekenhuis Brussel, Brussels, Belgium Stefanie.Brock@vub.be.
  • Vanderhasselt T; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.
  • Vermaning S; Department of Radiology, Universitair Ziekenhuis Brussel, Brussels, Belgium.
  • Keymolen K; Belgium Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
  • Régal L; Belgium Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
  • Romaniello R; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis, Brussels, Belgium.
  • Wieczorek D; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.
  • Storm TM; Institut fuer Humangenetik, Universitaetsklininikum Essen, Essen, Germany.
  • Schaeferhoff K; Institute of Human Genetics, Heinrich Heine University Düsseldorf, Dusseldorf, Nordrhein-Westfalen, Germany.
  • Hehr U; Institut für Humangenetik, Technische Universität München, Munchen, Bayern, Germany.
  • Kuechler A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Baden-Württemberg, Germany.
  • Krägeloh-Mann I; Zentrum für Humangenetik Regensburg, Universitätsklinikum Regensburg, Regensburg, Bayern, Germany.
  • Haack TB; Institut fuer Humangenetik, Universitaetsklininikum Essen, Essen, Germany.
  • Kasteleijn E; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, University of Tübingen, Tübingen, Germany.
  • Schot R; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls-Universitat Tubingen Medizinische Fakultat, Tübingen, Baden-Württemberg, Germany.
  • Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
  • Webster R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
  • Mohammad S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
  • Leventer RJ; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.
  • Mirzaa G; Department of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Dobyns WB; Department of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Bahi-Buisson N; Department of Neurology, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
  • Meuwissen M; Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Jansen AC; Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Stouffs K; Embryology and Genetics of Congenital Malformations, INSERM, Paris, Île-de-France, France.
J Med Genet ; 58(1): 33-40, 2021 01.
Article em En | MEDLINE | ID: mdl-32571897
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Deficiências do Desenvolvimento / Polimicrogiria / Deficiência Intelectual / Malformações do Sistema Nervoso Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Deficiências do Desenvolvimento / Polimicrogiria / Deficiência Intelectual / Malformações do Sistema Nervoso Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article