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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker, Elena J; Gutfreund, Niklas; Belaud-Rotureau, Marc-Antoine; Gilot, David; Brun, Tiffany; Kline, Brianna L; Bell, Katrina M; Domin-Bernhard, Mathilde; Théard, Camille; Touraine, Philippe; Robevska, Gorjana; van van den Bergen, Jocelyn; Ayers, Katie L; Sinclair, Andrew H; Dötsch, Volker; Jaillard, Sylvie.
Affiliation
  • Tucker EJ; Reproductive Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Gutfreund N; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Belaud-Rotureau MA; Biochemistry, Chemistry and Pharmacy, Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, Frankfurt, Germany.
  • Gilot D; Department of Reproductive Biology, Rennes University Hospital, Rennes, France.
  • Brun T; Institut de recherche en sante, environnement et travail (IRSET), Rennes University, Rennes University Hospital, Rennes, France.
  • Kline BL; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.
  • Bell KM; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.
  • Domin-Bernhard M; Centre de lutte contre le cancer Eugène Marquis (COSS), INSERM, Rennes University, Rennes, France.
  • Théard C; Cytogenetics and Cell Biology Department, Rennes University Hospital, Rennes, France.
  • Touraine P; Département de Gynécologie Obstétrique et Reproduction Humaine, CHU Rennes, Rennes, France.
  • Robevska G; Reproductive Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • van van den Bergen J; Bioinformatics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Ayers KL; Département de Gynécologie Obstétrique et Reproduction Humaine, CHU Rennes, Rennes, France.
  • Sinclair AH; Service de Génétique Clinique, Reference centre for developmental anomalies and malformation syndromes (CLAD Ouest), Rennes University Hospital, Rennes, CLAD Ouest, France.
  • Dötsch V; Department of Endocrinology and Reproductive Medicine, AP-HP, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Centre des Pathologies Gynécologiques Rares, Sorbonne University Medicine, Paris, France.
  • Jaillard S; Reproductive Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Hum Mutat ; 43(10): 1443-1453, 2022 10.
Article in En | MEDLINE | ID: mdl-35801529
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Primary Ovarian Insufficiency / Tumor Suppressor Proteins Type of study: Prognostic_studies Limits: Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Australia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Primary Ovarian Insufficiency / Tumor Suppressor Proteins Type of study: Prognostic_studies Limits: Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Australia