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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak, Björn; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M; Fleming, Emily; Foss, Kimberly; Ha, Thoa; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-Hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F; Mirzaa, Ghayda; Ehmke, Nadja.
Afiliação
  • Fischer-Zirnsak B; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Segebrecht L; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany; Berlin Institute of Health (BIH), Berlin 10117, Germany.
  • Schubach M; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany; Berlin Institute of Health (BIH), Berlin 10117, Germany.
  • Charles P; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris 75013, France.
  • Alderman E; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Brown K; Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA.
  • Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA.
  • Cartwright T; Neuroscape Center, Departments of Neurology, Pediatrics, Physiology, Radiology, and Psychiatry, University of California, San Francisco, CA 94158, USA.
  • Chen Y; GeneDx, Gaithersburg, MD 20877, USA.
  • Costin C; Akron Children's Hospital, Akron, OH 44302, USA.
  • Fehr S; Praxis für Humangenetik Tübingen, Tübingen 72076, Germany.
  • Fitzgerald KM; Division of Child Neurology, Department of Pediatrics, Children's Mercy Hospital & Clinics, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
  • Fleming E; Division of Clinical Genetics, Children's Mercy Hospital & Clinics, Kansas City, MO 64108, USA.
  • Foss K; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Ha T; Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA.
  • Hildebrand G; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Horn D; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Liu S; GeneDx, Gaithersburg, MD 20877, USA.
  • Marco EJ; Cortica Healthcare, San Rafael, CA 94903, USA.
  • McDonald M; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
  • McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
  • Race S; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
  • Rush ET; Division of Clinical Genetics, Children's Mercy Hospital & Clinics, Kansas City, MO 64108, USA.
  • Si Y; GeneDx, Gaithersburg, MD 20877, USA.
  • Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
  • Slavotinek A; Division of Genetics, Department Pediatrics, University of California, San Francisco, CA 94143-2711, USA.
  • Stockler-Ipsiroglu S; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.
  • Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
  • Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
  • Torti E; GeneDx, Gaithersburg, MD 20877, USA.
  • Tsai AC; Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
  • Wang X; GeneDx, Gaithersburg, MD 20877, USA.
  • Zafar M; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
  • Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris 75013, France.
  • Kornak U; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Ehmke N; Charité - Universitätsmedizin Berlin, Berlin 13353, Germany. Electronic address: nadja.ehmke@charite.de.
Am J Hum Genet ; 105(3): 631-639, 2019 09 05.
Article em En | MEDLINE | ID: mdl-31353024
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Haploinsuficiência / Transtornos do Neurodesenvolvimento / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Haploinsuficiência / Transtornos do Neurodesenvolvimento / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha