Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Abdelkader Heddar"'
Autor:
Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findlinki, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi
Publikováno v:
EBioMedicine, Vol 84, Iss , Pp 104246- (2022)
Summary: 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 famil
Externí odkaz:
https://doaj.org/article/617ed46466844b7380f9a8115b51a419
Autor:
Abdelkader Heddar, Micheline Misrahi
Publikováno v:
Fertility and Sterility. 118:421-424
Autor:
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Autor:
Abdelkader Heddar, Micheline Misrahi
Publikováno v:
Human Genetics. 140:691-694
Autor:
Abdelkader Heddar, Marie Lambert, Gabriel Livera, Elodie Dardillac, Bernard S. Lopez, Helene Creux, Micheline Misrahi, Sandrine Caburet, Sébastien Messiaen, Sophie Tourpin
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106672. ⟨10.1136/jmedgenet-2019-106672⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106672. ⟨10.1136/jmedgenet-2019-106672⟩
BackgroundPrimary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair h
Publikováno v:
Human Reproduction. 36
Study question To identify the etiology of isolated Primary Ovarian Insufficiency (POI) in a patient from an Indian consanguineous family. Summary answer A homozygous nonsense mutation of SPIDR in the patient yielded chromosomal instability: first ev
Autor:
Micheline Misrahi, Abdelkader Heddar
Publikováno v:
Human Mutation. 41:1697-1699
Autor:
Abdelkader Heddar, Micheline Misrahi
Publikováno v:
Clin Transl Gastroenterol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314bab9ddb64830d259d3b8f6141070b
https://europepmc.org/articles/PMC7494139/
https://europepmc.org/articles/PMC7494139/
Autor:
Abdelkader Heddar, Lambert Marie, Caburet Sandrine, Livera Gabriel, Creux Héléne, Dardillac Elodie, Micheline Misrahi, Bernard S. Lopez
Publikováno v:
Endocrine Abstracts.
Autor:
Abdelkader Heddar, Micheline Misrahi
Publikováno v:
Clinical and Translational Gastroenterology