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SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
Schilit, Samantha L P; Menon, Shreya; Friedrich, Corinna; Kammin, Tammy; Wilch, Ellen; Hanscom, Carrie; Jiang, Sizun; Kliesch, Sabine; Talkowski, Michael E; Tüttelmann, Frank; MacQueen, Amy J; Morton, Cynthia C.
Afiliação
  • Schilit SLP; Program in Genetics and Genomics and Certificate Program in Leder Human Biology and Translational Medicine, Biological and Biomedical Sciences Program, Graduate School of Arts and Sciences, Harvard University, Cambridge, MA 02138, USA; Harvard Medical School, Boston, MA 02115, USA.
  • Menon S; Harvard College, Harvard University, Cambridge, MA 02138, USA.
  • Friedrich C; Institute of Human Genetics, University of Münster, 48149 Münster, Germany.
  • Kammin T; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Wilch E; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Hanscom C; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Jiang S; Baxter Laboratory for Stem Cell Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, 48149 Münster, Germany.
  • Talkowski ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02115, USA; Departments of Neurology, Psychology, and Pathology, Massachusetts General Hospital, Boston, MA 02114, USA; Medical and Population Genetics
  • Tüttelmann F; Institute of Human Genetics, University of Münster, 48149 Münster, Germany. Electronic address: frank.tuettelmann@ukmuenster.de.
  • MacQueen AJ; Department of Molecular Biology and Biochemistry, Wesleyan University, Middletown, CT 06459, USA.
  • Morton CC; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, B
Am J Hum Genet ; 106(1): 41-57, 2020 01 02.
Article em En | MEDLINE | ID: mdl-31866047
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Oligospermia / Mutação da Fase de Leitura / Aberrações Cromossômicas / Proteínas de Ciclo Celular / Proteínas de Ligação a DNA / Infertilidade Masculina Limite: Adult / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Oligospermia / Mutação da Fase de Leitura / Aberrações Cromossômicas / Proteínas de Ciclo Celular / Proteínas de Ligação a DNA / Infertilidade Masculina Limite: Adult / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos