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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J; Baxová, Alice; Bendová, Sárka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J; Froukh, Tawfiq; Gunay-Aygun, Meral; Hancárová, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M; Magriña, Maria A; Mark, Paul R; McDonald, Marie T; Montgomery, Sarah; Morley, Gina M; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedlácek, Zdenek; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S; Wheeler, Patricia G; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M; Lalani, Seema R; Siu, Victoria M; Bi, Weimin; Balci, Tugce B.
Afiliación
  • Chowdhury F; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Wang L; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.
  • Al-Raqad M; Baylor Genetics Laboratory, Houston, TX, USA.
  • Amor DJ; Al-Balqa Applied University, Faculty of Medicine, Al-Salt, Jordan.
  • Baxová A; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Parkville, Australia.
  • Bendová S; Department of Biology and Medical Genetics, 1st Faculty of Medicine and University Hospital, Charles University, Prague, Czech Republic.
  • Biamino E; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.
  • Brusco A; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy.
  • Caluseriu O; Department of Medical Sciences, University of Torino, Torino, Italy.
  • Cox NJ; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
  • Froukh T; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
  • Gunay-Aygun M; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.
  • Hancárová M; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD, USA.
  • Haynes D; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.
  • Heide S; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.
  • Hoganson G; Département de Génétique and CRMR « Déficience Intellectuelle ¼, Hôpital de la Pitié Salpêtrière, APHP Sorbonne Université, Paris, France.
  • Kaname T; Department of Medical Genetics, Mercyhealth-Javon Bea Hospital, Rockford, IL, USA.
  • Keren B; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Kosaki K; Département de Génétique and CRMR « Déficience Intellectuelle ¼, Hôpital de la Pitié Salpêtrière, APHP Sorbonne Université, Paris, France.
  • Kubota K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Lemons JM; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Magriña MA; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Mark PR; Medical Specialties Unit from City Hall São Jose dos Campos, São Paulo, Brazil.
  • McDonald MT; Division of Medical Genetics and Genomics, Spectrum Health, Grand Rapids, MI, USA.
  • Montgomery S; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Morley GM; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Ohnishi H; Department of Medical Genetics, Mercyhealth-Javon Bea Hospital, Rockford, IL, USA.
  • Okamoto N; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Rodriguez-Buritica D; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Rump P; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Sedlácek Z; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
  • Schatz K; Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.
  • Streff H; Department of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD, USA.
  • Uehara T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Walia JS; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Wheeler PG; Department of Pediatrics, Division of Medical Genetics, Kingston General Hospital, Kingston, ON, Canada.
  • Wiesener A; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Kawakami K; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Wentzensen IM; Laboratory of Molecular and Developmental Biology, National Institute of Genetics, Mishima, Japan.
  • Lalani SR; GeneDx, Gaithersburg, MD, USA.
  • Siu VM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bi W; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
  • Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.
Genet Med ; 23(7): 1234-1245, 2021 07.
Article en En | MEDLINE | ID: mdl-33824499
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Haploinsuficiencia / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Haploinsuficiencia / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos