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

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

对先天性心脏病家族病例进行系统性变异筛查,证明了分子遗传学在该领域的实用性。

El Malti, Rajae; Liu, Hui; Doray, Bérénice; Thauvin, Christel; Maltret, Alice; Dauphin, Claire; Gonçalves-Rocha, Miguel; Teboul, Michel; Blanchet, Patricia; Roume, Joëlle; Gronier, Céline; Ducreux, Corinne; Veyrier, Magali; Marçon, François; Acar, Philippe; Lusson, Jean-René; Levy, Marilyne; Beyler, Constance; Vigneron, Jacqueline; Cordier-Alex, Marie-Pierre; Heitz, François; Sanlaville, Damien; Bonnet, Damien; Bouvagnet, Patrice

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

包含 TCOF1 和 CAMK2A 基因的大片段缺失是导致伴有智力障碍的特雷彻·柯林斯综合征的原因。

Vincent, Marie; Collet, Corinne; Verloes, Alain; Lambert, Laetitia; Herlin, Christian; Blanchet, Catherine; Sanchez, Elodie; Drunat, Séverine; Vigneron, Jacqueline; Laplanche, Jean-Louis; Puechberty, Jacques; Sarda, Pierre; Geneviève, David

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

对所有已知的 Usher 综合征基因进行完整的外显子测序,可显著提高分子诊断水平。

Bonnet, Crystel; Grati, M'hamed; Marlin, Sandrine; Levilliers, Jacqueline; Hardelin, Jean-Pierre; Parodi, Marine; Niasme-Grare, Magali; Zelenika, Diana; Délépine, Marc; Feldmann, Delphine; Jonard, Laurence; El-Amraoui, Aziz; Weil, Dominique; Delobel, Bruno; Vincent, Christophe; Dollfus, Hélène; Eliot, Marie-Madeleine; David, Albert; Calais, Catherine; Vigneron, Jacqueline; Montaut-Verient, Bettina; Bonneau, Dominique; Dubin, Jacques; Thauvin, Christel; Duvillard, Alain; Francannet, Christine; Mom, Thierry; Lacombe, Didier; Duriez, Françoise; Drouin-Garraud, Valérie; Thuillier-Obstoy, Marie-Françoise; Sigaudy, Sabine; Frances, Anne-Marie; Collignon, Patrick; Challe, Georges; Couderc, Rémy; Lathrop, Mark; Sahel, José-Alain; Weissenbach, Jean; Petit, Christine; Denoyelle, Françoise

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

CFTR基因大片段重排对伴有肠道畸形的胎儿囊性纤维化诊断具有显著贡献

de Becdelièvre, Alix; Costa, Catherine; LeFloch, Annick; Legendre, Marie; Jouannic, Jean-Marie; Vigneron, Jacqueline; Bresson, Jean-Luc; Gobin, Stéphanie; Martin, Josiane; Goossens, Michel; Girodon, Emmanuelle