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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M.
Afiliação
  • Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Reijnders MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Fenckova M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bijlsma EK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bernier R; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Bon BW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Smeets E; Department of Psychiatry, University of Washington, Seattle, WA, USA.
  • Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bosch D; Department of Clinical Genetics, University of Maastricht, Maastricht, The Netherlands.
  • Eichler EE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Mefford HC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Carvill GL; Department Genome Sciences, University of Washington, Seattle, WA, USA.
  • Bongers EM; Howard Hughes Medical Institute, Seattle, WA, USA.
  • Schuurs-Hoeijmakers JH; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.
  • Ruivenkamp CA; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, USA.
  • Santen GW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Maagdenberg AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Peeters-Scholte CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kuenen S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Verstreken P; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Pfundt R; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Yntema HG; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • de Vries PF; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • Veltman JA; VIB, Center for the Biology of Disease, Leuven, Belgium.
  • Hoischen A; KU Leuven, Center for Human Genetics, Leuven Institute for Neuroscience and Disease (LIND), Leuven, Belgium.
  • Gilissen C; VIB, Center for the Biology of Disease, Leuven, Belgium.
  • de Vries BB; KU Leuven, Center for Human Genetics, Leuven Institute for Neuroscience and Disease (LIND), Leuven, Belgium.
  • Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Vissers LE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Eur J Hum Genet ; 24(8): 1145-53, 2016 08.
Article em En | MEDLINE | ID: mdl-26757981
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Anormalidades Craniofaciais / Proteínas de Drosophila / Proteínas Adaptadoras de Transdução de Sinal / Deficiências da Aprendizagem / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Anormalidades Craniofaciais / Proteínas de Drosophila / Proteínas Adaptadoras de Transdução de Sinal / Deficiências da Aprendizagem / Deficiência Intelectual / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda