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

Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter

甲基化敏感高分辨率熔解技术是一种简单灵敏的检测MLH1基因启动子种系表观突变的方法。

Delhomelle, Hélène; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Ibadioune, Sabrina; Maraone, Frederic; Séné, Mathieu; Buecher, Bruno; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Johannes, Faustine; Golmard, Lisa; Vincent-Salomon, Anne; Pasmant, Eric; Leclerc, Julie; Bahuau, Michel; Bièche, Ivan; Colas, Chrystelle

Exome sequencing for diagnosis of congenital hemolytic anemia

外显子组测序用于诊断先天性溶血性贫血

Mansour-Hendili, Lamisse; Aissat, Abdelrazak; Badaoui, Bouchra; Sakka, Mehdi; Gameiro, Christine; Ortonne, Valérie; Wagner-Ballon, Orianne; Pissard, Serge; Picard, Véronique; Ghazal, Khaldoun; Bahuau, Michel; Guitton, Corinne; Mansour, Ziad; Duplan, Mylène; Petit, Arnaud; Costedoat-Chalumeau, Nathalie; Michel, Marc; Bartolucci, Pablo; Moutereau, Stéphane; Funalot, Benoît; Galactéros, Frédéric

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

热不稳定醛缩酶 A 突变体可引起发热诱发的复发性横纹肌溶解症,但不会引起溶血性贫血

Mamoune Asmaa, Bahuau Michel, Hamel Yamina, Serre Valérie, Pelosi Michele, Habarou Florence, Nguyen Morel Marie-Ange, Boisson Bertrand, Vergnaud Sabrina, Viou Mai Thao, Nonnenmacher Luc, Piraud Monique, Nusbaum Patrick, Vamecq Joseph, Romero Norma, Ottolenghi Chris, Casanova Jean-Laurent, de Lonlay Pascale

Chronic hemolytic anemia due to novel alpha-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

由新型α-珠蛋白链变异引起的慢性溶血性贫血:基因序列中突变的关键位置对其显性效应至关重要

Préhu, Claude; Moradkhani, Kamran; Riou, Jean; Bahuau, Michel; Launay, Pierre; Martin, Natacha; Wajcman, Henri; Goossens, Michel; Galactéros, Frédéric

Anti-GM-CSF antibodies in paediatric pulmonary alveolar proteinosis

儿童肺泡蛋白沉积症中的抗GM-CSF抗体

Latzin, P; Tredano, M; Wüst, Y; de Blic, J; Nicolai, T; Bewig, B; Stanzel, F; Köhler, D; Bahuau, M; Griese, M

Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease

弥漫性慢性肺疾病患儿疏水性表面活性蛋白的表达谱

Griese, Matthias; Schumacher, Silja; Tredano, Mohammed; Steinecker, Manuela; Braun, Annika; Guttentag, Susan; Beers, Michael F; Bahuau, Michel

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

IRF6基因突变会导致范德伍德综合征和腘窝翼状胬肉综合征。

Kondo, Shinji; Schutte, Brian C; Richardson, Rebecca J; Bjork, Bryan C; Knight, Alexandra S; Watanabe, Yoriko; Howard, Emma; de Lima, Renata L L Ferreira; Daack-Hirsch, Sandra; Sander, Achim; McDonald-McGinn, Donna M; Zackai, Elaine H; Lammer, Edward J; Aylsworth, Arthur S; Ardinger, Holly H; Lidral, Andrew C; Pober, Barbara R; Moreno, Lina; Arcos-Burgos, Mauricio; Valencia, Consuelo; Houdayer, Claude; Bahuau, Michel; Moretti-Ferreira, Danilo; Richieri-Costa, Antonio; Dixon, Michael J; Murray, Jeffrey C

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

GDNF作为1型神经纤维瘤病(NF1)肠道表型的候选修饰因子

Bahuau, M; Pelet, A; Vidaud, D; Lamireau, T; LeBail, B; Munnich, A; Vidaud, M; Lyonnet, S; Lacombe, D