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

Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier

在复杂的相互易位携带者中进行染色体分离分析和基于HOST的精子选择

Rossi, Capucine; Siffroi, Jean-Pierre; Ruosso, Léa; Rogers, Eli; Becker, Michael; Cassuto, Nino Guy; Prat-Ellenberg, Laura; Rouen, Alexandre

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

特纳综合征:法国国家诊断和护理方案(NDCP;国家诊断和护理方案)

Fiot, Elodie; Alauze, Bertille; Donadille, Bruno; Samara-Boustani, Dinane; Houang, Muriel; De Filippo, Gianpaolo; Bachelot, Anne; Delcour, Clemence; Beyler, Constance; Bois, Emilie; Bourrat, Emmanuelle; Bui Quoc, Emmanuel; Bourcigaux, Nathalie; Chaussain, Catherine; Cohen, Ariel; Cohen-Solal, Martine; Da Costa, Sabrina; Dossier, Claire; Ederhy, Stephane; Elmaleh, Monique; Iserin, Laurence; Lengliné, Hélène; Poujol-Robert, Armelle; Roulot, Dominique; Viala, Jerome; Albarel, Frederique; Bismuth, Elise; Bernard, Valérie; Bouvattier, Claire; Brac, Aude; Bretones, Patricia; Chabbert-Buffet, Nathalie; Chanson, Philippe; Coutant, Regis; de Warren, Marguerite; Demaret, Béatrice; Duranteau, Lise; Eustache, Florence; Gautheret, Lydie; Gelwane, Georges; Gourbesville, Claire; Grynberg, Mickaël; Gueniche, Karinne; Jorgensen, Carina; Kerlan, Veronique; Lebrun, Charlotte; Lefevre, Christine; Lorenzini, Françoise; Manouvrier, Sylvie; Pienkowski, Catherine; Reynaud, Rachel; Reznik, Yves; Siffroi, Jean-Pierre; Tabet, Anne-Claude; Tauber, Maithé; Vautier, Vanessa; Tauveron, Igor; Wambre, Sebastien; Zenaty, Delphine; Netchine, Irène; Polak, Michel; Touraine, Philippe; Carel, Jean-Claude; Christin-Maitre, Sophie; Léger, Juliane

Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility

精子分子谱分析揭示形态与基因表达之间的相关性:男性不育症的新型生物标志物组合

Cassuto, Nino Guy; Piquemal, David; Boitrelle, Florence; Larue, Lionel; Lédée, Nathalie; Hatem, Ghada; Ruoso, Léa; Bouret, Dominique; Siffroi, Jean-Pierre; Rouen, Alexandre; Assou, Said

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

DEAH-box RNA 解旋酶 DHX37 中的致病变异是导致 46,XY 性腺发育不良和 46,XY 睾丸退化综合征的常见原因

Ken McElreavey, Anne Jorgensen, Caroline Eozenou, Tiphanie Merel, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Denis Houzelstein, Federica Buonocore, Nick Warr, Raissa G G Kay, Matthieu Peycelon, Jean-Pierre Siffroi, Inas Mazen, John C Achermann, Yuliya Shcherbak, Juliane Leger, Agnes Sallai, Jean-C

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

DNAH17 基因突变(编码精子特异性轴丝外动力蛋白臂重链)导致因弱精子症导致的孤立性男性不育症

Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi, Jean-François Papon, Estelle Escudier, Serg

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event

NLRP3 p.A441V 突变在 NLRP3-AID 发病机制中的作用:功能后果、表型-基因型相关性以及复发性突变事件的证据

Awad, Fawaz; Assrawi, Eman; Jumeau, Claire; Odent, Sylvie; Despert, Veronique; Cam, Gérard; Perdriger, Aleth; Louvrier, Camille; Cobret, Laetitia; Copin, Bruno; Chantot-Bastaraud, Sandra; Duquesnoy, Philippe; Piterboth, William; Le Jeunne, Claire; Quenum-Miraillet, Genevieve; Siffroi, Jean Pierre; Georgin-Lavialle, Sophie; Grateau, Gilles; Legendre, Marie; Giurgea, Irina; Karabina, Sonia-Athina; Amselem, Serge

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

编码 COUP-TF2 的核受体 NR2F2 功能丧失会导致 46,XX 儿童睾丸发育异常和心脏缺陷。

Bashamboo, Anu; Eozenou, Caroline; Jorgensen, Anne; Bignon-Topalovic, Joelle; Siffroi, Jean-Pierre; Hyon, Capucine; Tar, Attila; Nagy, Péter; Sólyom, Janos; Halász, Zita; Paye-Jaouen, Annnabel; Lambert, Sophie; Rodriguez-Buritica, David; Bertalan, Rita; Martinerie, Laetitia; Rajpert-De Meyts, Ewa; Achermann, John C; McElreavey, Ken

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

人类3β-羟类固醇脱氢酶缺乏症伴有正常的精子数量,尽管存在严重的酶缺乏

Donadille, Bruno; Houang, Muriel; Netchine, Irène; Siffroi, Jean-Pierre; Christin-Maitre, Sophie

Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells

来自诱导性多能干细胞的功能性人类米色脂肪细胞

Anne-Claire Guénantin, Nolwenn Briand, Emilie Capel, Florent Dumont, Romain Morichon, Claire Provost, Francesca Stillitano, Dorota Jeziorowska, Jean-Pierre Siffroi, Roger J Hajjar, Bruno Fève, Jean-Sébastien Hulot, Philippe Collas, Jacqueline Capeau, Corinne Vigouroux2

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

自闭症谱系障碍患者中看似平衡的染色体重排的复杂性

Tabet, Anne-Claude; Verloes, Alain; Pilorge, Marion; Delaby, Elsa; Delorme, Richard; Nygren, Gudrun; Devillard, Françoise; Gérard, Marion; Passemard, Sandrine; Héron, Delphine; Siffroi, Jean-Pierre; Jacquette, Aurelia; Delahaye, Andrée; Perrin, Laurence; Dupont, Céline; Aboura, Azzedine; Bitoun, Pierre; Coleman, Mary; Leboyer, Marion; Gillberg, Christopher; Benzacken, Brigitte; Betancur, Catalina