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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
Stolerman, Elliot S; Francisco, Elizabeth; Stallworth, Jennifer L; Jones, Julie R; Monaghan, Kristin G; Keller-Ramey, Jennifer; Person, Richard; Wentzensen, Ingrid M; McWalter, Kirsty; Keren, Boris; Heron, Benedicte; Nava, Caroline; Heron, Delphine; Kim, Katherine; Burton, Barbara; Al-Musafri, Fatima; O'Grady, Lauren; Sahai, Inderneel; Escobar, Luis F; Meuwissen, Marije; Reyniers, Edwin; Kooy, Frank; Lacassie, Yves; Gunay-Aygun, Meral; Schatz, Krista Sondergaard; Hochstenbach, Ron; Zwijnenburg, Petra J G; Waisfisz, Quinten; van Slegtenhorst, Marjon; Mancini, Grazia M S; Louie, Raymond J.
Afiliação
  • Stolerman ES; Greenwood Genetic Center, Greenwood, South Carolina.
  • Francisco E; Greenwood Genetic Center, Greenwood, South Carolina.
  • Stallworth JL; Greenwood Genetic Center, Greenwood, South Carolina.
  • Jones JR; Greenwood Genetic Center, Greenwood, South Carolina.
  • Monaghan KG; GeneDx, Gaithersburg, Maryland.
  • Keller-Ramey J; GeneDx, Gaithersburg, Maryland.
  • Person R; GeneDx, Gaithersburg, Maryland.
  • Wentzensen IM; GeneDx, Gaithersburg, Maryland.
  • McWalter K; GeneDx, Gaithersburg, Maryland.
  • Keren B; APHP, Hôpital Armand Trousseau, Paris, France.
  • Heron B; APHP, Hôpital Armand Trousseau, Paris, France.
  • Nava C; APHP, Hôpital Armand Trousseau, Paris, France.
  • Heron D; APHP, Hôpital Armand Trousseau, Paris, France.
  • Kim K; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois.
  • Burton B; Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
  • Al-Musafri F; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois.
  • O'Grady L; Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
  • Sahai I; Pediatrics Department, Hamad Medical Corporation, Qatar.
  • Escobar LF; Massachusetts General Hospital, Boston, Massachusetts.
  • Meuwissen M; Massachusetts General Hospital, Boston, Massachusetts.
  • Reyniers E; Medical Genetics and Neurodevelopmental Center, Peyton Manning Children's, Hospital at St. Vincent, Indianapolis, Indiana.
  • Kooy F; Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Lacassie Y; Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Gunay-Aygun M; Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Schatz KS; Children's Hospital New Orleans, New Orleans, Louisiana.
  • Hochstenbach R; Louisiana State University Health Sciences Center, New Orleans, Louisiana.
  • Zwijnenburg PJG; Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
  • Waisfisz Q; Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
  • van Slegtenhorst M; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Mancini GMS; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Louie RJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Am J Med Genet A ; 179(7): 1276-1286, 2019 07.
Article em En | MEDLINE | ID: mdl-31124279
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Histona Desmetilases com o Domínio Jumonji / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Histona Desmetilases com o Domínio Jumonji / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article