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

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

新增两例间质性 7q35q36.1 缺失病例,分别涉及 CNTNAP2 和 KMT2C 基因。

Tosca, Lucie; Drévillon, Loïc; Mouka, Aurélie; Lecerf, Laure; Briand, Audrey; Ortonne, Valérie; Benoit, Virginie; Brisset, Sophie; Van Maldergem, Lionel; Laudouar, Quitterie; Heide, Solveig; Goossens, Michel; Giurgea, Irina; Tachdjian, Gérard; Métay, Corinne

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

Xp11.22双重缺失(包括SHROOM4和CLCN5基因缺失)与严重的精神运动发育迟缓和Dent病相关。

Armanet, Narjes; Metay, Corinne; Brisset, Sophie; Deschenes, Georges; Pineau, Dominique; Petit, François M; Di Rocco, Federico; Goossens, Michel; Tachdjian, Gérard; Labrune, Philippe; Tosca, Lucie

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

早发性肥胖和父系2pter缺失,该缺失包含ACP1、TMEM18和MYT1L基因

Doco-Fenzy, Martine; Leroy, Camille; Schneider, Anouck; Petit, Florence; Delrue, Marie-Ange; Andrieux, Joris; Perrin-Sabourin, Laurence; Landais, Emilie; Aboura, Azzedine; Puechberty, Jacques; Girard, Manon; Tournaire, Magali; Sanchez, Elodie; Rooryck, Caroline; Ameil, Agnès; Goossens, Michel; Jonveaux, Philippe; Lefort, Geneviève; Taine, Laurence; Cailley, Dorothée; Gaillard, Dominique; Leheup, Bruno; Sarda, Pierre; Geneviève, David

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

三名患有14q22q23微缺失的儿童出现无眼症、听力丧失、垂体发育异常以及对生长激素治疗的反应

Brisset, Sophie; Slamova, Zuzana; Dusatkova, Petra; Briand-Suleau, Audrey; Milcent, Karen; Metay, Corinne; Simandlova, Martina; Sumnik, Zdenek; Tosca, Lucie; Goossens, Michel; Labrune, Philippe; Zemankova, Elsa; Lebl, Jan; Tachdjian, Gerard; Sedlacek, Zdenek

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness

SOX10基因功能丧失突变会导致卡尔曼综合征伴耳聋

Pingault, Veronique; Bodereau, Virginie; Baral, Viviane; Marcos, Severine; Watanabe, Yuli; Chaoui, Asma; Fouveaut, Corinne; Leroy, Chrystel; Vérier-Mine, Odile; Francannet, Christine; Dupin-Deguine, Delphine; Archambeaud, Françoise; Kurtz, François-Joseph; Young, Jacques; Bertherat, Jérôme; Marlin, Sandrine; Goossens, Michel; Hardelin, Jean-Pierre; Dodé, Catherine; Bondurand, Nadege

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

瓦尔登堡综合征4型中SOX10调控元件的Alu介导缺失

Bondurand, Nadége; Fouquet, Virginie; Baral, Viviane; Lecerf, Laure; Loundon, Natalie; Goossens, Michel; Duriez, Benedicte; Labrune, Philippe; Pingault, Veronique

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

MITF 基本结构域的新型和复发性非截断突变:瓦尔登堡综合征和蒂茨综合征的基因型和表型变异

Léger, Sandy; Balguerie, Xavier; Goldenberg, Alice; Drouin-Garraud, Valérie; Cabot, Annick; Amstutz-Montadert, Isabelle; Young, Paul; Joly, Pascal; Bodereau, Virginie; Holder-Espinasse, Muriel; Jamieson, Robyn V; Krause, Amanda; Chen, Hongsheng; Baumann, Clarisse; Nunes, Luis; Dollfus, Hélène; Goossens, Michel; Pingault, Véronique

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

卵巢生殖细胞嵌合体引起的复发性 70.8 Mb 4q22.2q32.3 重复

Tosca, Lucie; Brisset, Sophie; Petit, François M; Lecerf, Laure; Rousseau, Ghislaine; Bas, Cécile; Laroudie, Mireille; Maurin, Marie-Laure; Tapia, Sylvie; Picone, Olivier; Prevot, Sophie; Goossens, Michel; Labrune, Philippe; Tachdjian, Gérard

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

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

NAGNAG 受体位点的选择性剪接作为新型表型修饰剂

Hinzpeter Alexandre, Aissat Abdel, Sondo Elvira, Costa Catherine, Arous Nicole, Gameiro Christine, Martin Natacha, Tarze Agathe, Weiss Laurence, de Becdelièvre Alix, Costes Bruno, Goossens Michel, Galietta Luis J, Girodon Emmanuelle, Fanen Pascale