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Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
McGlacken-Byrne, Sinéad M; Del Valle, Ignacio; Quesne Stabej, Polona Le; Bellutti, Laura; Garcia-Alonso, Luz; Ocaka, Louise A; Ishida, Miho; Suntharalingham, Jenifer P; Gagunashvili, Andrey; Ogunbiyi, Olumide K; Mistry, Talisa; Buonocore, Federica; Crespo, Berta; Moreno, Nadjeda; Niola, Paola; Brooks, Tony; Brain, Caroline E; Dattani, Mehul T; Kelberman, Daniel; Vento-Tormo, Roser; Lagos, Carlos F; Livera, Gabriel; Conway, Gerard S; Achermann, John C.
Afiliación
  • McGlacken-Byrne SM; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Del Valle I; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
  • Quesne Stabej PL; EGA Institute for Women's Health, University College London, London, United Kingdom.
  • Bellutti L; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Garcia-Alonso L; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Ocaka LA; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
  • Ishida M; Laboratory of Development of the Gonads, Genetic Stability Stem Cells and Radiations, CEA/IBFJ/iRCM, University of Paris-Saclay, University Paris City, Fontenay aux Roses, France.
  • Suntharalingham JP; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.
  • Gagunashvili A; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Ogunbiyi OK; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Mistry T; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Buonocore F; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Crespo B; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Moreno N; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Niola P; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Brooks T; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Dattani MT; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Kelberman D; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Vento-Tormo R; UCL Genomics, Zayed Centre for Research, University College London, London, United Kingdom.
  • Lagos CF; UCL Genomics, Zayed Centre for Research, University College London, London, United Kingdom.
  • Livera G; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
  • Conway GS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
  • Achermann JC; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
JCI Insight ; 7(5)2022 03 08.
Article en En | MEDLINE | ID: mdl-35138268
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / ARN Helicasas Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: JCI Insight Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / ARN Helicasas Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: JCI Insight Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido