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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik, Monica H; Srivastava, Siddharth; Agrawal, Pankaj B; Balci, Tugce B; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A; Grange, Dorothy K; Hickey, Scott E; Isidor, Bertrand; Küry, Sébastien; Lachman, Herbert M; Lavillaureix, Alinoe; Lyons, Michael J; Marcelis, Carlo; Marco, Elysa J; Martinez-Agosto, Julian A; Nowak, Catherine; Pizzol, Antonio; Planes, Marc; Prijoles, Eloise J; Riberi, Evelise; Rush, Eric T; Russell, Bianca E; Sachdev, Rani; Schmalz, Betsy; Shears, Deborah; Stevenson, David A; Wilson, Kate; Jansen, Sandra; de Vries, Bert B A; Curry, Cynthia J.
Afiliación
  • Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Srivastava S; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Balci TB; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Callewaert B; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Calvo PL; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.
  • Carli D; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.
  • Caudle M; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.
  • Colaiacovo S; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.
  • Cross L; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Demetriou K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.
  • Drazba K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.
  • Dutra-Clarke M; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Edwards M; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Genetti CA; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Grange DK; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.
  • Hickey SE; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.
  • Isidor B; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Küry S; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Lachman HM; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
  • Lavillaureix A; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Lyons MJ; Department of Medical Genetics, Nantes Hospital, Nantes, France.
  • Marcelis C; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.
  • Marco EJ; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.
  • Martinez-Agosto JA; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.
  • Nowak C; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Pizzol A; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Planes M; Cortica Healthcare, Marin Center, San Rafael, California, USA.
  • Prijoles EJ; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.
  • Riberi E; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rush ET; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.
  • Russell BE; Service de Génétique Clinique, University Hospital Morvan, Brest, France.
  • Sachdev R; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Schmalz B; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.
  • Shears D; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.
  • Stevenson DA; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.
  • Wilson K; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA.
  • Jansen S; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.
  • de Vries BBA; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Curry CJ; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.
Am J Med Genet A ; 191(7): 1900-1910, 2023 07.
Article en En | MEDLINE | ID: mdl-37183572
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos