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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin, Margot A; Creighton, Blake A; Breau, Keith A; Spillmann, Rebecca C; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J; Afriyie, Simone; Bay, Julia C; Harper, Kathryn M; Beltran, Alvaro A; Munoz, Lorena J; Falcon Rodriguez, Liset; Stankewich, Michael C; Person, Richard E; Si, Yue; Normand, Elizabeth A; Blevins, Amy; May, Alison S; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J; Brilstra, Eva; van Gassen, Koen L I; van Jaarsveld, Richard H; Oegema, Renske; Parsons, Gretchen M; Mark, Paul; Helbig, Ingo; McKeown, Sarah E; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T; Kritzer, Amy.
Afiliação
  • Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.
  • Creighton BA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.
  • Breau KA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Spillmann RC; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Torti E; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
  • Dontu S; GeneDx, Gaithersburg, MD, USA.
  • Tripathi S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Ajit D; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Edwards RJ; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Afriyie S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Bay JC; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Harper KM; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Beltran AA; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Munoz LJ; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Falcon Rodriguez L; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Stankewich MC; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Person RE; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Si Y; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Normand EA; Department of Pathology, Yale University, New Haven, CT, USA.
  • Blevins A; GeneDx, Gaithersburg, MD, USA.
  • May AS; GeneDx, Gaithersburg, MD, USA.
  • Bier L; GeneDx, Gaithersburg, MD, USA.
  • Aggarwal V; GeneDx, Gaithersburg, MD, USA.
  • Mancini GMS; Department of Neurology, Columbia University, New York, NY, USA.
  • van Slegtenhorst MA; Institute for Genomic Medicine, Columbia University, New York, NY, USA.
  • Cremer K; Institute for Genomic Medicine, Columbia University, New York, NY, USA.
  • Becker J; Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
  • Engels H; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Aretz S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • MacKenzie JJ; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Brilstra E; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • van Gassen KLI; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • van Jaarsveld RH; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Oegema R; McMaster University, Hamilton, Ontario, Canada.
  • Parsons GM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Mark P; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Helbig I; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • McKeown SE; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Stratton R; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
  • Cogne B; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
  • Isidor B; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Cacheiro P; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Smedley D; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Firth HV; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
  • Bierhals T; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Kloth K; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Weiss D; Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
  • Fairley C; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Shieh JT; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.
  • Kritzer A; Service de Génétique Médicale, CHU Nantes, Nantes, France.
Nat Genet ; 53(7): 1006-1021, 2021 07.
Article em En | MEDLINE | ID: mdl-34211179
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Espectrina / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Genes Dominantes Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Espectrina / Predisposição Genética para Doença / Transtornos do Neurodesenvolvimento / Genes Dominantes Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos