日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium

全基因组cfDNA筛查与大拷贝数变异诊断测试结果的一致性:来自全球扩展NIPT联盟的多中心研究

Soster, Erica; Dalton, Kristin; Bonifacio, Michael; Ellis, Katie Battese; Hardy, Tristan; Heddar, Abdelkader; Jurkowska, Monika; Kleinfinger, Pascale; Kulisic, Marizela; Loggenberg, Kelly; Menezes, Melody; Mori, Allesio; Savarese, Giovanni; Westover, Thomas; Bhatt, Sucheta

Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility

120例卵巢储备功能减退患者队列的遗传图谱:与不孕症的相关性

Lafraoui, Imène; Heddar, Abdelkader; Cantalloube, Adèle; Braham, Inès; Peigné, Maëliss; Beneteau, Claire; Gricourt, Solenne; Poirsier, Claire; Legrand, Stéphanie; Stoeva, Radka; Metayer-Amelot, Laure; Lobersztajn, Annina; Lebrun, Soizic; Gruchy, Nicolas; Abdennebi, Inès; Cedrin-Durnerin, Isabelle; Fernandez, Hervé; Luton, Dominique; Torre, Antoine; Zagdoun, Léonore; Chevalier, Nicolas; Khrouf, Mohamed; Mahmoud, Khaled; Epelboin, Sylvie; Catteau-Jonard, Sophie; Misrahi, Micheline

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve

双等位基因生殖细胞 BRCA1 移码突变与孤立性卵巢储备功能减退相关

Anne Helbling-Leclerc, Marie Falampin, Abdelkader Heddar, Léa Guerrini-Rousseau, Maud Marchand, Iphigenie Cavadias, Nathalie Auger, Brigitte Bressac-de Paillerets, Laurence Brugieres, Bernard S Lopez, Michel Polak, Filippo Rosselli, Micheline Misrahi

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

1p36缺失综合征:回顾和定位,并进一步表征其表型,一项包含86例患者的新队列研究

Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean-Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne-Claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, François; Doco-Fenzy, Martine

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

原发性卵巢功能不全大型队列的遗传图谱:新基因和通路及其对个体化医疗的意义

Heddar, Abdelkader; Ogur, Cagri; Da Costa, Sabrina; Braham, Inès; Billaud-Rist, Line; Findikli, 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

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

原发性卵巢功能不全(无癌症或范康尼贫血特征)中的纯合低等位基因 BRCA2 变异

Sandrine Caburet, Abdelkader Heddar, Elodie Dardillac, Héléne Creux, Marie Lambert, Sébastien Messiaen, Sophie Tourpin, Gabriel Livera, Bernard S Lopez, Micheline Misrahi