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

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

梅克尔综合征和朱伯特综合征中的CC2D2A基因突变表明存在基因型-表型相关性。

Mougou-Zerelli, Soumaya; Thomas, Sophie; Szenker, Emmanuelle; Audollent, Sophie; Elkhartoufi, Nadia; Babarit, Candice; Romano, Stéphane; Salomon, Rémi; Amiel, Jeanne; Esculpavit, Chantal; Gonzales, Marie; Escudier, Estelle; Leheup, Bruno; Loget, Philippe; Odent, Sylvie; Roume, Joëlle; Gérard, Marion; Delezoide, Anne-Lise; Khung, Suonavy; Patrier, Sophie; Cordier, Marie-Pierre; Bouvier, Raymonde; Martinovic, Jéléna; Gubler, Marie-Claire; Boddaert, Nathalie; Munnich, Arnold; Encha-Razavi, Férechté; Valente, Enza Maria; Saad, Ali; Saunier, Sophie; Vekemans, Michel; Attié-Bitach, Tania

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

CEP290 (NPHP6) 突变的多效性也包括梅克尔综合征

Baala, Lekbir; Audollent, Sophie; Martinovic, Jéléna; Ozilou, Catherine; Babron, Marie-Claude; Sivanandamoorthy, Sivanthiny; Saunier, Sophie; Salomon, Rémi; Gonzales, Marie; Rattenberry, Eleanor; Esculpavit, Chantal; Toutain, Annick; Moraine, Claude; Parent, Philippe; Marcorelles, Pascale; Dauge, Marie-Christine; Roume, Joëlle; Le Merrer, Martine; Meiner, Vardiella; Meir, Karen; Menez, Françoise; Beaufrère, Anne-Marie; Francannet, Christine; Tantau, Julia; Sinico, Martine; Dumez, Yves; MacDonald, Fiona; Munnich, Arnold; Lyonnet, Stanislas; Gubler, Marie-Claire; Génin, Emmanuelle; Johnson, Colin A; Vekemans, Michel; Encha-Razavi, Férechté; Attié-Bitach, Tania

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

胎儿期 CHD7 截断突变所致 CHARGE 综合征的表型谱与人类发育过程中的表达相关

Sanlaville, D; Etchevers, H C; Gonzales, M; Martinovic, J; Clément-Ziza, M; Delezoide, A-L; Aubry, M-C; Pelet, A; Chemouny, S; Cruaud, C; Audollent, S; Esculpavit, C; Goudefroye, G; Ozilou, C; Fredouille, C; Joye, N; Morichon-Delvallez, N; Dumez, Y; Weissenbach, J; Munnich, A; Amiel, J; Encha-Razavi, F; Lyonnet, S; Vekemans, M; Attié-Bitach, T