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A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Bramble, Matthew S; Goldstein, Ellen H; Lipson, Allen; Ngun, Tuck; Eskin, Ascia; Gosschalk, Jason E; Roach, Lara; Vashist, Neerja; Barseghyan, Hayk; Lee, Eric; Arboleda, Valerie A; Vaiman, Daniel; Yuksel, Zafer; Fellous, Marc; Vilain, Eric.
Afiliação
  • Bramble MS; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Goldstein EH; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of California Los Angeles
  • Lipson A; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Ngun T; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Eskin A; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Gosschalk JE; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Roach L; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Vashist N; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Barseghyan H; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Lee E; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Arboleda VA; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA.
  • Vaiman D; Department of Development, Reproduction, and Cancer, Institut Cochin, U1016 Inserm, University Sorbonne Paris, CNRS UMR8104, Paris, France.
  • Yuksel Z; Department of Medical Genetics, Women and Children Hospital, Halkkent Mh. Fatih Sultan Mehmet Boulevard No. 23, Mersin 33240, Turkey.
  • Fellous M; Department of Development, Reproduction, and Cancer, Institut Cochin, U1016 Inserm, University Sorbonne Paris, CNRS UMR8104, Paris, France.
  • Vilain E; Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, 695 Charles E Young Drive South, Los Angeles, CA 90095, USA evilain@ucla.edu.
Hum Reprod ; 31(4): 905-14, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26911863

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores do FSH / Modelos Moleculares / Insuficiência Ovariana Primária / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores do FSH / Modelos Moleculares / Insuficiência Ovariana Primária / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article