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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma, Asaf; Hjeij, Rim; Perles, Zeev; Dougherty, Gerard W; Abu Zahira, Ibrahim; Letteboer, Stef J F; Antony, Dinu; Darwish, Alaa; Mans, Dorus A; Spittler, Sabrina; Edelbusch, Christine; Cindric, Sandra; Nöthe-Menchen, Tabea; Olbrich, Heike; Stuhlmann, Friederike; Aprea, Isabella; Pennekamp, Petra; Loges, Niki T; Breuer, Oded; Shaag, Avraham; Rein, Azaria J J T; Gulec, Elif Yilmaz; Gezdirici, Alper; Abitbul, Revital; Elias, Nael; Amirav, Israel; Schmidts, Miriam; Roepman, Ronald; Elpeleg, Orly; Omran, Heymut.
Afiliación
  • Ta-Shma A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Hjeij R; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Perles Z; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Dougherty GW; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Abu Zahira I; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Letteboer SJF; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Antony D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Darwish A; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.
  • Mans DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Spittler S; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.
  • Edelbusch C; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Freiburg, Germany.
  • Cindric S; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Nöthe-Menchen T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Olbrich H; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, the Netherlands.
  • Stuhlmann F; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Aprea I; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Pennekamp P; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Loges NT; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Breuer O; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Shaag A; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Rein AJJT; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Gulec EY; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Gezdirici A; Department of General Pediatrics, University Hospital Muenster, Muenster, Germany.
  • Abitbul R; Pediatric Pulmonology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Elias N; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Amirav I; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Schmidts M; University of Health Sciences, Kanuni Sultan Suleyman, Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey.
  • Roepman R; University of Health Sciences, Kanuni Sultan Suleyman, Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey.
  • Elpeleg O; Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar Ilan University, Safed, Israel.
  • Omran H; Saint Vincent Hospital, Nazareth, Faculty of Medicine, Bar Ilan University, Israel.
PLoS Genet ; 14(8): e1007602, 2018 08.
Article en En | MEDLINE | ID: mdl-30148830

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Codón sin Sentido / Homocigoto / Infertilidad Masculina / Lateralidad Funcional Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2018 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Codón sin Sentido / Homocigoto / Infertilidad Masculina / Lateralidad Funcional Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2018 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos