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Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler, David E; Ling, Ling; Gamage, Dinusha; Baker, Emma K; Bui, Minh; Field, Michael J; Rogers, Carolyn; Butler, Merlin G; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E; Skinner, Cindy D; Alliende, Angelica M; Santa Maria, Lorena; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J.
Afiliación
  • Godler DE; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
  • Ling L; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Gamage D; E.D.G. Innovations and Consulting, St Kilda, Victoria, Australia.
  • Baker EK; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
  • Bui M; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
  • Field MJ; Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.
  • Rogers C; Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Butler MG; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Carlton, Victoria, Australia.
  • Murgia A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.
  • Leonardi E; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.
  • Polli R; Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas.
  • Schwartz CE; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.
  • Skinner CD; Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padua, Italy.
  • Alliende AM; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.
  • Santa Maria L; Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padua, Italy.
  • Pitt J; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.
  • Greaves R; Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padua, Italy.
  • Francis D; Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.
  • Oertel R; Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.
  • Wang M; Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile.
  • Simons C; Centre for Diagnosis and Treatment of Fragile X Syndrome (CDTSXF), INTA University of Chile, Santiago, Chile.
  • Amor DJ; Cytogenetics and Molecular Laboratory, Institute of Nutrition and Food Technology, University of Chile, Santiago, Chile.
JAMA Netw Open ; 5(1): e2141911, 2022 01 04.
Article en En | MEDLINE | ID: mdl-34982160
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Cromosomas Humanos Par 15 / Pruebas Genéticas / Tamizaje Neonatal / Síndrome de Angelman Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: JAMA Netw Open Año: 2022 Tipo del documento: Article País de afiliación: Australia 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: Síndrome de Prader-Willi / Cromosomas Humanos Par 15 / Pruebas Genéticas / Tamizaje Neonatal / Síndrome de Angelman Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: JAMA Netw Open Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos