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

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

勘误:作者更正:用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

用于识别 Phelan-McDermid 综合征患者致病基因的框架

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas

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

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

6q16缺失(包括SIM1)的不完全外显率和表型变异性

El Khattabi, Laïla; Guimiot, Fabien; Pipiras, Eva; Andrieux, Joris; Baumann, Clarisse; Bouquillon, Sonia; Delezoide, Anne-Lise; Delobel, Bruno; Demurger, Florence; Dessuant, Hélène; Drunat, Séverine; Dubourg, Christelle; Dupont, Céline; Faivre, Laurence; Holder-Espinasse, Muriel; Jaillard, Sylvie; Journel, Hubert; Lyonnet, Stanislas; Malan, Valérie; Masurel, Alice; Marle, Nathalie; Missirian, Chantal; Moerman, Alexandre; Moncla, Anne; Odent, Sylvie; Palumbo, Orazio; Palumbo, Pietro; Ravel, Aimé; Romana, Serge; Tabet, Anne-Claude; Valduga, Mylène; Vermelle, Marie; Carella, Massimo; Dupont, Jean-Michel; Verloes, Alain; Benzacken, Brigitte; Delahaye, Andrée

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

3D-FISH分析揭示罗伯茨综合征患者间期染色单体黏连缺陷

Dupont, Celine; Bucourt, Martine; Guimiot, Fabien; Kraoua, Lilia; Smiljkovski, Daniel; Le Tessier, Dominique; Lebugle, Camille; Gerard, Benedicte; Spaggiari, Emmanuel; Bourdoncle, Pierre; Tabet, Anne-Claude; Benzacken, Brigitte; Dupont, Jean-Michel

Obesity leads to higher risk of sperm DNA damage in infertile patients

肥胖导致不育患者精子DNA损伤风险更高

Charlotte Dupont, Céline Faure, Nathalie Sermondade, Marouane Boubaya, Florence Eustache, Patrice Clément, Pascal Briot, Isabelle Berthaut, Vincent Levy, Isabelle Cedrin-Durnerin, Brigitte Benzacken, Pascale Chavatte-Palmer, Rachel Levy

Spontaneous conception after autologous hematopoietic stem cell transplantation: a case report

自体造血干细胞移植后自然受孕:病例报告

Dupont, Charlotte; Bally, Cécile; Eustache, Florence; Sermondade, Nathalie; Benzacken, Brigitte; Fenaux, Pierre; Lévy, Rachel

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

自闭症多重家族,同卵双胞胎患有16p11.2p12.2微重复综合征,其兄弟患有远端16p11.2缺失综合征。

Tabet, Anne-Claude; Pilorge, Marion; Delorme, Richard; Amsellem, Frédérique; Pinard, Jean-Marc; Leboyer, Marion; Verloes, Alain; Benzacken, Brigitte; Betancur, Catalina

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

12p12.1 区域的 SOX5 单倍体不足与发育迟缓相关,表现为显著的语言发育迟缓、行为问题和轻微的畸形特征。

Lamb, Allen N; Rosenfeld, Jill A; Neill, Nicholas J; Talkowski, Michael E; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I; Rosenbaum, Kenneth; Vallee, Stephanie E; Moeschler, John B; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron-Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M; Opheim, Kent E; Descartes, Maria; Eichler, Evan E; Morton, Cynthia C; Gusella, James F; Schultz, Roger A; Ballif, Blake C; Shaffer, Lisa G

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

利用阵列比较基因组杂交技术(array-CGH)检测综合征性眼部发育异常患者的基因组失衡

Andrée Delahaye ,Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Annick Toutain, Alain Verloes, Frédérique Gatelais, Marie Legendre, Laurence Faivre, Sandrine Passemard, Azzedine Aboura, Sophie Kaltenbach, Samuel Quentin, Céline Dupont, Anne-Claude Tabet, Serge Amselem, Jacques Elion, Pierre Gressens, Eva Pipiras, Brigitte Benzacken