Your browser doesn't support javascript.
loading
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau, Philippe M; Kasperaviciute, Dalia; Lu, James T; Burrage, Lindsay C; Kim, Choel; Hori, Mutsuki; Powell, Berkley R; Stewart, Fiona; Félix, Têmis Maria; van den Ende, Jenneke; Wisniewska, Marzena; Kayserili, Hülya; Rump, Patrick; Nampoothiri, Sheela; Aftimos, Salim; Mey, Antje; Nair, Lal D V; Begleiter, Michael L; De Bie, Isabelle; Meenakshi, Girish; Murray, Mitzi L; Repetto, Gabriela M; Golabi, Mahin; Blair, Edward; Male, Alison; Giuliano, Fabienne; Kariminejad, Ariana; Newman, William G; Bhaskar, Sanjeev S; Dickerson, Jonathan E; Kerr, Bronwyn; Banka, Siddharth; Giltay, Jacques C; Wieczorek, Dagmar; Tostevin, Anna; Wiszniewska, Joanna; Cheung, Sau Wai; Hennekam, Raoul C; Gibbs, Richard A; Lee, Brendan H; Sisodiya, Sanjay M.
Afiliação
  • Campeau PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kasperaviciute D; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
  • Lu JT; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX, USA.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kim C; Department of Pharmacology, Baylor College of Medicine, Houston, TX, USA.
  • Hori M; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Powell BR; Children's Hospital Central California, Madera, California, USA.
  • Stewart F; Genetics Service, Belfast City Hospital, Belfast, Ireland.
  • Félix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre, Porto Alegre, Brazil.
  • van den Ende J; Department of Medical Genetics, University Hospital Antwerp, 2650 Antwerp, Belgium.
  • Wisniewska M; Department of Medical Genetics, Poznañ University of Medical Sciences, Poznañ, Poland.
  • Kayserili H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Turkey.
  • Rump P; Department of Genetics, University of Groningen, Groningen, Netherlands.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India.
  • Aftimos S; Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Auckland, New Zealand.
  • Mey A; Pediatric Neurology, Braunschweig Hospital, Braunschweig, Germany.
  • Nair LD; Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, Tamil Nadu, 600077, India.
  • Begleiter ML; Division of Genetics, Children's Mercy Hospitals and Clinics and the University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
  • De Bie I; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Quebec, Canada.
  • Meenakshi G; Department of Pediatrics, NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital, Maharashtra, India.
  • Murray ML; University of Washington Medical Center, Seattle, WA, USA.
  • Repetto GM; Center for Human Genetics, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
  • Golabi M; Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
  • Blair E; Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
  • Male A; Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Giuliano F; Centre Référence Anomalie Développement et Syndromes Malformatifs, Centre Hospitalier Universitaire de Nice, France.
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Newman WG; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Man
  • Bhaskar SS; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Man
  • Dickerson JE; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Man
  • Kerr B; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Man
  • Banka S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Man
  • Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Wieczorek D; Institut für Humangenetik, University of Duisburg-Essen, University Hospital Essen, Essen, Germany.
  • Tostevin A; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.
  • Wiszniewska J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hennekam RC; Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institutes, Houston, TX, USA. Electronic address: blee@bcm.edu.
  • Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK; Epilepsy Society, Buckinghamshire, UK. Electronic address: s.sisodiya@ucl.ac.uk.
Lancet Neurol ; 13(1): 44-58, 2014 Jan.
Article em En | MEDLINE | ID: mdl-24291220
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deformidades Congênitas da Mão / Proteínas de Transporte / Análise de Sequência de DNA / Anormalidades Craniofaciais / Internacionalidade / Exoma / Perda Auditiva Neurossensorial / Deficiência Intelectual / Unhas Malformadas Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Lancet Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deformidades Congênitas da Mão / Proteínas de Transporte / Análise de Sequência de DNA / Anormalidades Craniofaciais / Internacionalidade / Exoma / Perda Auditiva Neurossensorial / Deficiência Intelectual / Unhas Malformadas Tipo de estudo: Clinical_trials / Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Lancet Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos