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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Mulchandani, Surabhi; Bhoj, Elizabeth J; Luo, Minjie; Powell-Hamilton, Nina; Jenny, Kim; Gripp, Karen W; Elbracht, Miriam; Eggermann, Thomas; Turner, Claire L S; Temple, I Karen; Mackay, Deborah J G; Dubbs, Holly; Stevenson, David A; Slattery, Leah; Zackai, Elaine H; Spinner, Nancy B; Krantz, Ian D; Conlin, Laura K.
Afiliación
  • Mulchandani S; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bhoj EJ; Division of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Luo M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Powell-Hamilton N; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Jenny K; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Gripp KW; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Elbracht M; Institute of Human Genetics, University Hospital, RWTH Aachen, Aachen, Germany.
  • Eggermann T; Institute of Human Genetics, University Hospital, RWTH Aachen, Aachen, Germany.
  • Turner CL; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK.
  • Temple IK; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK.
  • Mackay DJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Dubbs H; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Stevenson DA; Division of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Slattery L; Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Zackai EH; Division of Medical Genetics, Stanford University, Stanford, California, USA.
  • Spinner NB; Division of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Krantz ID; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Conlin LK; Division of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Genet Med ; 18(4): 309-15, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26248010

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 20 / Disomía Uniparental / Trastornos del Crecimiento Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 20 / Disomía Uniparental / Trastornos del Crecimiento Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos