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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
LaCroix, Amy J; Stabley, Deborah; Sahraoui, Rebecca; Adam, Margaret P; Mehaffey, Michele; Kernan, Kelly; Myers, Candace T; Fagerstrom, Carrie; Anadiotis, George; Akkari, Yassmine M; Robbins, Katherine M; Gripp, Karen W; Baratela, Wagner A R; Bober, Michael B; Duker, Angela L; Doherty, Dan; Dempsey, Jennifer C; Miller, Daniel G; Kircher, Martin; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Sol-Church, Katia.
Afiliación
  • LaCroix AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Stabley D; Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Sahraoui R; Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Biological Sciences, University of Delaware, Newark, DE 19716, USA.
  • Adam MP; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • Mehaffey M; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Kernan K; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Myers CT; Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Fagerstrom C; Legacy Health, Portland, OR 97227, USA.
  • Anadiotis G; Legacy Health, Portland, OR 97227, USA.
  • Akkari YM; Legacy Health, Portland, OR 97227, USA.
  • Robbins KM; Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Gripp KW; Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Baratela WAR; Division of Orthogenetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Instituto da Criança, Departamento de Pediatria, Universidade de São Paulo, São Paulo, SP Brazil.
  • Bober MB; Division of Orthogenetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Duker AL; Division of Orthogenetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
  • Doherty D; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • Dempsey JC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Miller DG; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.
  • Kircher M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
  • Nickerson DA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
  • Sol-Church K; Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA; Department of Pathology, University of Virginia School of Medicine, Charlottesville, VA 22908, USA. Electronic address: ks5uq@virginia.edu.
Am J Hum Genet ; 104(1): 35-44, 2019 01 03.
Article en En | MEDLINE | ID: mdl-30554721
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pentosiltransferasa / Anomalías Múltiples / Exones / Metilación de ADN / Expansión de Repetición de Trinucleótido / Epigénesis Genética / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pentosiltransferasa / Anomalías Múltiples / Exones / Metilación de ADN / Expansión de Repetición de Trinucleótido / Epigénesis Genética / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos