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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

BACKGROUND: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unr...

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Detalles Bibliográficos
Autores principales: Heddar, Abdelkader, Ogur, Cagri, Da Costa, Sabrina, Braham, Inès, Billaud-Rist, Line, Findlinki, Necati, Beneteau, Claire, Reynaud, Rachel, Mahmoud, Khaled, Legrand, Stéphanie, Marchand, Maud, Cedrin-Durnerin, Isabelle, Cantalloube, Adèle, Peigne, Maeliss, Bretault, Marion, Dagher-Hayeck, Benedicte, Perol, Sandrine, Droumaguet, Celine, Cavkaytar, Sabri, Nicolas-Bonne, Carole, Elloumi, Hanen, Khrouf, Mohamed, Rougier-LeMasle, Charlotte, Fradin, Melanie, Le Boette, Elsa, Luigi, Perrine, Guerrot, Anne-Marie, Ginglinger, Emmanuelle, Zampa, Amandine, Fauconnier, Anais, Auger, Nathalie, Paris, Françoise, Brischoux-Boucher, Elise, Cabrol, Christelle, Brun, Aurore, Guyon, Laura, Berard, Melanie, Riviere, Axelle, Gruchy, Nicolas, Odent, Sylvie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Piard, Juliette, Lambert, Laetitia, Hamamah, Samir, Guedj, Anne Marie, Brac de la Perriere, Aude, Fernandez, Hervé, Raffin-Sanson, Marie-Laure, Polak, Michel, Letur, Hélène, Epelboin, Sylvie, Plu-Bureau, Genevieve, Wołczyński, Sławomir, Hieronimus, Sylvie, Aittomaki, Kristiina, Catteau-Jonard, Sophie, Misrahi, Micheline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9475279/
https://www.ncbi.nlm.nih.gov/pubmed/36099812
http://dx.doi.org/10.1016/j.ebiom.2022.104246