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DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Schenkel, L C; Aref-Eshghi, E; Rooney, K; Kerkhof, J; Levy, M A; McConkey, H; Rogers, R C; Phelan, K; Sarasua, S M; Jain, L; Pauly, R; Boccuto, L; DuPont, B; Cappuccio, G; Brunetti-Pierri, N; Schwartz, C E; Sadikovic, B.
Afiliação
  • Schenkel LC; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada.
  • Rooney K; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Rogers RC; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.
  • Phelan K; Greenville Office, Greenwood Genetic Center, Greenville, SC, 29605, USA.
  • Sarasua SM; Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, 33816, USA.
  • Jain L; Clemson University, Clemson, SC, 29634, USA.
  • Pauly R; Greenwood Genetic Center, Greenwood, SC, 29646, USA.
  • Boccuto L; Clemson University, Clemson, SC, 29634, USA.
  • DuPont B; Greenwood Genetic Center, Greenwood, SC, 29646, USA.
  • Cappuccio G; Greenwood Genetic Center, Greenwood, SC, 29646, USA.
  • Brunetti-Pierri N; Clemson University, Clemson, SC, 29634, USA.
  • Schwartz CE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.
  • Sadikovic B; Department of Translational Medicine, University Federico II, 80131, Naples, NA, Italy.
Clin Epigenetics ; 13(1): 2, 2021 01 06.
Article em En | MEDLINE | ID: mdl-33407854
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Cromossomos Humanos Par 22 / Deleção Cromossômica / Metilação de DNA / Transtornos Cromossômicos / Genótipo Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Epigenetics Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Cromossomos Humanos Par 22 / Deleção Cromossômica / Metilação de DNA / Transtornos Cromossômicos / Genótipo Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Epigenetics Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá