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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti, Erin; Keren, Boris; Palmer, Elizabeth E; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J; Andrews, Marisa V; Atkinson, Celia; Au, Margaret; Berry, Susan A; Bowling, Kevin M; Boyle, Jackie; Buratti, Julien; Cathey, Sara S; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F; Finley, Sabra Ledare; Graham, John M; Grange, Dorothy K; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M; Hibbs, Kathleen A; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G; Person, Richard E.
Afiliación
  • Torti E; GeneDx, Gaithersburg, MD, USA. etorti@genedx.com.
  • Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Palmer EE; Genetics of Learning Disability Service, Hunter New England Health, Waratah, NSW, Australia.
  • Zhu Z; Australia School of Women's' and Children' Health, University of New South Wales, Sydney, NSW, Australia.
  • Afenjar A; GeneDx, Gaithersburg, MD, USA.
  • Anderson IJ; Département de génétique et embryologie médicale, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, Paris, France.
  • Andrews MV; Centre de Référence malformations et maladies congénitales du cervelet, Paris, France.
  • Atkinson C; Sorbonne Universités, GRC ConCer-LD, Hôpital Armand Trousseau, Paris, France.
  • Au M; Department of Medicine, Division of Genetics, the University of Tennessee Graduate School of Medicine, University Genetics, Knoxville, TN, USA.
  • Berry SA; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Bowling KM; Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Boyle J; Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Buratti J; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Cathey SS; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Charles P; Genetics of Learning Disability Service, Hunter New England Health, Waratah, NSW, Australia.
  • Cogne B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Courtin T; Greenwood Genetic Center, Greenwood, SC, USA.
  • Escobar LF; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Finley SL; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
  • Graham JM; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme", Paris, France.
  • Grange DK; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Heron D; l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Hewson S; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Hiatt SM; St. Vincent Hospital and Health Services, Indianapolis, IN, USA.
  • Hibbs KA; University Genetics, University of Tennessee Medical Center, Knoxville, TN, USA.
  • Jayakar P; Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Kalsner L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Larcher L; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Lesca G; Département de génétique et embryologie médicale, Hôpital Trousseau, Assistance publique-Hôpitaux de Paris, Paris, France.
  • Mark PR; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
  • Miller K; Sorbonne Université, GRC "Déficience Intellectuelle et Autisme", Paris, France.
  • Nava C; Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Nizon M; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Pai GS; University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA.
  • Pappas J; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
  • Parsons G; Connecticut Children's Medical Center, Farmington, CT, USA.
  • Payne K; School of Medicine, University of Connecticut, Farmington, CT, USA.
  • Putoux A; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Rabin R; Department of Medical Genetics, Lyon University Hospitals, Lyon, France.
  • Sabatier I; Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon I University, Lyon, France.
  • Shinawi M; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
  • Shur N; Albany Medical Center, Albany, NY, USA.
  • Skinner SA; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Valence S; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, Paris, France.
  • Warren H; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Whalen S; l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
  • Crunk A; Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
  • Douglas G; Department of Pediatrics, New York University School of Medicine, New York, NY, USA.
  • Monaghan KG; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
  • Person RE; Riley Hospital for Children, Indianapolis, IN, USA.
Genet Med ; 21(9): 2036-2042, 2019 09.
Article en En | MEDLINE | ID: mdl-30739909
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos