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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Barber, John C K; Rosenfeld, Jill A; Graham, John M; Kramer, Nancy; Lachlan, Katherine L; Bateman, Mark S; Collinson, Morag N; Stadheim, Barbro Fossøy; Turner, Claire L S; Gauthier, Jacqueline N; Reimschisel, Tyler E; Qureshi, Athar M; Dabir, Tabib A; Humphreys, Mervyn W; Marble, Michael; Huang, Taosheng; Beal, Sarah J; Massiah, Joanne; Taylor, Emma-Jane; Wynn, Sarah L.
Afiliación
  • Barber JC; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.
  • Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer Inc., Spokane, Washington.
  • Graham JM; Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California.
  • Kramer N; Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California.
  • Lachlan KL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Bateman MS; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Stadheim BF; Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway.
  • Turner CL; Department of Clinical Genetics, Royal Devon and Exeter Hospital (Heavitree), Exeter, UK.
  • Gauthier JN; Division of Developmental Medicine and the Centre for Child Development, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Reimschisel TE; Division of Developmental Medicine and the Centre for Child Development, Vanderbilt University Medical Center, Nashville, Tennessee.
  • Qureshi AM; Center for Pediatric and Congenital Heart Disease, The Cleveland Clinic, Cleveland, Ohio.
  • Dabir TA; Medical Genetics Department, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland.
  • Humphreys MW; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, Northern Ireland.
  • Marble M; Children's Hospital of New Orleans, New Orleans, Louisiana.
  • Huang T; School of Medicine, University of California, Irvine, California.
  • Beal SJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Massiah J; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Taylor EJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Wynn SL; Unique, Caterham, UK.
Am J Med Genet A ; 167A(9): 2052-64, 2015 Sep.
Article en En | MEDLINE | ID: mdl-26097203
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 8 / Discapacidades del Desarrollo / Duplicación de Gen Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 8 / Discapacidades del Desarrollo / Duplicación de Gen Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido