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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Hacihamdioglu, Bulent; Coban Akdemir, Zeynep Hande; Hijazi, Hadia; Bas, Serpil; Atay, Zeynep; Guran, Tulay; Abali, Saygin; Bas, Firdevs; Darendeliler, Feyza; Colombo, Roberto; Barakat, Tahsin Stefan; Rinne, Tuula; White, Janson J; Yesil, Gozde; Gezdirici, Alper; Gulec, Elif Yilmaz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N; Muzny, Donna M; Poyrazoglu, Sukran; Bereket, Abdullah; Gibbs, Richard A; Posey, Jennifer E; Lupski, James R.
Afiliação
  • Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Turan S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
  • Aycan Z; Department of Pediatric Endocrinology, Sami Ulus Children's Hospital, Ankara, Turkey.
  • Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara, Turkey.
  • Abali ZY; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Hacihamdioglu B; Department of Pediatric Endocrinology, Istinye University, Istanbul, Turkey.
  • Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bas S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
  • Atay Z; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
  • Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
  • Abali S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
  • Bas F; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Darendeliler F; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Colombo R; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
  • Barakat TS; Faculty of Medicine, Catholic University, IRCCS Policlinico Gemelli University Hospital, Rome, Italy.
  • Rinne T; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • White JJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yesil G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Gezdirici A; Department of Medical Genetics, Bezmialem University, Istanbul, Turkey.
  • Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Karaca E; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Pehlivan D; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Muzny DM; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
  • Poyrazoglu S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Bereket A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Gibbs RA; Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Posey JE; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
J Clin Endocrinol Metab ; 104(8): 3049-3067, 2019 08 01.
Article em En | MEDLINE | ID: mdl-31042289
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Sequenciamento do Exoma Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Sequenciamento do Exoma Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article