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

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome

治疗性p63亚型转换可挽救AEC综合征的表皮缺陷

Di Girolamo, Daniela; Urciuoli, Gloria; Sol, Stefano; Ferniani, Marco; Antonini, Dario; Marchese, Emanuela; Palumbo, Sara; De Stefano, Maria Angela; Baltissen, Marijke P A; Ros, Marian A; Dixon, Jill; Hadj-Rabia, Smail; Missero, Caterina

The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity

牙釉质器中 Claudin-10 的缺失会改变其完整性

Nguyen, T N; Ribes, S; Andrique, C; Requin, M; Bouchet, J; Obtel, N; Slimani, L; Brouilly, N; Torrens, C; Schmitt, A; Guilbert, T; Morawietz, M; Kiesow, A; Brunelle, A; Percot, A; Hadj-Rabia, S; Gaucher, C; Le Bivic, A; Houillier, P; Bardet, C; Muller, D; Ramirez Rozzi, F; Coradin, T; Breiderhoff, T; Chaussain, C

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

FAM111B相关皮肤异色症及表型谱扩展中的泛素-蛋白酶体系统失调:新病例报告和长期随访

Virginie Vignard,Mike Maillasson,Anne Bigot,Sébastien Küry,Thomas Besnard,Martin Broly,Aurélie Guého,Emmanuelle Com,Erica Davis,Wallid Deb,Laëtitia Florenceau,Karen Sobriel,Grégoire Ménard,Betty Gardie,Alice Goldenberg,Joseph Porrmann,Randal Richardson,Léa Ruffier,Smail Hadj-Rabia,Stéphane Bézieau,Sébastien Barbarot,Frédéric Ebstein,Sandra Mercier

Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8

眼皮肤白化病8型中的视交叉交叉

Rateaux, Maxence; Hadj-Rabia, Smaïl; Barrois, Rémi; Zambrowski, Olivia; Michaud, Vincent; Moreno-Artero, Ester; Bremond-Gignac, Dominique; Javerzat, Sophie; Robert, Matthieu P

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

罕见病转诊中心就诊的儿童和青少年妇科问题:一项观察性回顾性队列研究

Cavadias, Iphigénie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloé; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-Dit-Maire, Pierre; Hadj-Rabia, Smaïl; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valérie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Véronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina

Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus

X连锁少汗型外胚层发育不良女性携带者对产前治疗的态度及其在怀有男性胎儿时的决定

Schneider, Holm; Schneider, Michael; Lia, Massimiliano; Grange, Dorothy K; Hadj-Rabia, Smail; Clarke, Angus; Fete, Mary; Jaulent, Agnes; Guiraud, Marlene; Odibo, Anthony; Faschingbauer, Florian

Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology

内溶酶体系统的功能和形态可塑性:生理和病理交汇处的色素细胞器

Salavessa, Laura; Rouabah, Myckaëla; Pernea, Paula; Hadj-Rabia, Smail; Delevoye, Cédric

MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells

MEK-SHP2抑制剂可预防由雪旺细胞和骨骼干/祖细胞中NF1缺失引起的胫骨假关节形成。

Perrin, Simon; Protic, Sanela; Bretegnier, Vincent; Laurendeau, Ingrid; de Lageneste, Oriane Duchamp; Panara, Nicolas; Ruckebusch, Odile; Luka, Marine; Masson, Cécile; Maillard, Théodora; Coulpier, Fanny; Pannier, Stéphanie; Wicart, Philippe; Hadj-Rabia, Smail; Radomska, Katarzyna J; Zarhrate, Mohammed; Ménager, Mickael; Vidaud, Dominique; Topilko, Piotr; Parfait, Béatrice; Colnot, Céline

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases

色素失禁症是胸腺发育不良、I型干扰素自身抗体和病毒性疾病的病因。

Jérémie Rosain ,Tom Le Voyer # ,Xian Liu # ,Adrian Gervais # ,Laura Polivka # ,Axel Cederholm # ,Laureline Berteloot # ,Audrey V Parent # ,Alessandra Pescatore # ,Ezia Spinosa # ,Snezana Minic # ,Ana Elisa Kiszewski # ,Miyuki Tsumura # ,Chloé Thibault # ,Maria Esnaola Azcoiti # ,Jelena Martinovic # ,Quentin Philippot # ,Taushif Khan # ,Astrid Marchal # ,Bénédicte Charmeteau-De Muylder # ,Lucy Bizien # ,Caroline Deswarte # ,Lillia Hadjem ,Marie-Odile Fauvarque ,Karim Dorgham ,Daniel Eriksson ,Emilia Liana Falcone ,Mathilde Puel ,Sinem Ünal ,Amyrath Geraldo ,Corentin Le Floc'h ,Hailun Li ,Sylvie Rheault ,Christine Muti ,Claire Bobrie-Moyrand ,Anne Welfringer-Morin ,Ramsay L Fuleihan ,Romain Lévy ,Marie Roelens ,Liwei Gao ,Marie Materna ,Silvia Pellegrini ,Lorenzo Piemonti ,Emilie Catherinot ,Jean-Christophe Goffard ,Arnaud Fekkar ,Aissata Sacko-Sow ,Camille Soudée ,Soraya Boucherit ,Anna-Lena Neehus ,Cristina Has ,Stefanie Hübner ,Géraldine Blanchard-Rohner ,Blanca Amador-Borrero ,Takanori Utsumi ,Maki Taniguchi ,Hiroo Tani ,Kazushi Izawa ,Takahiro Yasumi ,Sotaro Kanai ,Mélanie Migaud ,Mélodie Aubart ,Nathalie Lambert ,Guy Gorochov ,Capucine Picard ,Claire Soudais ,Anne-Sophie L'Honneur ,Flore Rozenberg ,Joshua D Milner ,Shen-Ying Zhang ,Pierre Vabres ,Dusan Trpinac ,Nico Marr ,Nathalie Boddaert ,Isabelle Desguerre ,Manolis Pasparakis ,Corey N Miller ,Cláudia S Poziomczyk ,Laurent Abel ,Satoshi Okada ,Emmanuelle Jouanguy ,Rémi Cheynier ,Qian Zhang ,Aurélie Cobat ,Vivien Béziat ,Bertrand Boisson ,Julie Steffann ,Francesca Fusco ,Matilde Valeria Ursini ,Smail Hadj-Rabia ,Christine Bodemer ,Jacinta Bustamante ,Hervé Luche ,Anne Puel # ,Gilles Courtois # ,Paul Bastard # ,Nils Landegren # ,Mark S Anderson # ,Jean-Laurent Casanova #

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

法国白化病患者的经历:一项关于父母及其患有白化病的成年子女的定性研究

Fournier, Hugo; Hasdenteufel, Marie; Garrouteigt, Constance; Perie, Mathieu; Gliksohn, Antoine; Jouanne, Béatrice; Hadj-Rabia, Smail; Arveiler, Benoit; Morice-Picard, Fanny; Quintard, Bruno