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

OTOF Gene Therapy: From Breakthroughs to Roadmaps

OTOF基因疗法:从突破到路线图

Wang, Qiuju; Moser, Tobias; Petit, Christine

Deciphering Auditory Hyperexcitability in Otogl Mutant Mice Unravels an Auditory Neuropathy Mechanism.

解析 Otogl 突变小鼠的听觉过度兴奋性揭示了听觉神经病变机制

Gagliardini Mathilde, Mechaussier Sabrina, Campos Pina Carolina, Morais Monica, Postal Olivier, Jean Philippe, Dupont Typhaine, Singh-Estivalet Amrit, Udugampolage Shéhanie, Scandola Cyril, Verpy Elisabeth, Libé-Philippot Baptiste, Inbar Talya C, Schwenkgrub Joanna, Spinola Carla Maria Barbosa, Etournay Raphaël, El-Amraoui Aziz, Bathellier Brice, Mallet Adeline, Delmaghani Sedigheh, Giraudet Fabrice, Petit Christine, Gourévitch Boris, Avan Paul, Michalski Nicolas

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity

马格里布和约旦语前孤立性耳聋和厄舍尔综合征的遗传学:利用纯合子的潜力

Riahi, Zied; Boucher, Sophie; Abdi, Samia; Wong Jun Tai, Fabienne; Singh-Estivalet, Amrit; Aghaie, Asadollah; Niasme-Grare, Magali; Hardelin, Jean-Pierre; Behlouli, Asma; Dahmani, Malika; Talbi, Sonia; Bouyacoub, Yosra; Mkaouar, Rahma; Charfeddine, Cherine; Amalou, Ghita; Bakhchane, Amina; Bousfiha, Amale; Salime, Sara; Elrharchi, Soukaina; Salame, Malak; Hadrami, Mouna; Boussaty, Ely; Charoute, Hicham; Detsouli, Mustapha; Snoussi, Khalid; Rouba, Hassan; Hachmi, Hala El; Veten, Fatimetou; Meiloud, Ghlana; Marrakchi, Jihene; Zainine, Rim; Chahed, Houda; Besbes, Ghazi; Trabelsi, Mediha; Mrad, Ridha; Kraoua, Ichraf; Ouhab, Sofiane; Djennaoui, Djamel; Boudjenah, Farid; Chouery, Eliane; Mustapha, Mirna; Houmeida, Ahmed; Barakat, Abdelhamid; Khodja, Fatima Ammar; Makrelouf, Mohamed; Zenati, Akila; Beltaief, Najeh; Abdelhak, Sonia; Petit, Christine; Bonnet, Crystel

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder

全外显子组测序鉴定出ABHD14A和MRNIP是发育性语言障碍的新候选基因

Bouzid, Amal; Belcadhi, Malek; Souissi, Amal; Chelly, Meryam; Frikha, Fakher; Gargouri, Hela; Bonnet, Crystel; Jebali, Fida; Loukil, Salma; Petit, Christine; Masmoudi, Saber; Hamoudi, Rifat; Ben Said, Mariem

Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment

毛里塔尼亚一个患有非综合征性听力障碍的家族中,PJVK基因存在剪接改变变异。

Salame, Malak; Bonnet, Crystel; Singh-Estivalet, Amrit; Brahim, Selma Mohamed; Roux, Solene; Boussaty, Ely Cheikh; Hadrami, Mouna; Hamed, Cheikh Tijani; Sidi, Abdellahi M'hamed; Veten, Fatimetou; Petit, Christine; Houmeida, Ahmed

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

更正:突尼斯综合征性耳聋的当前表型和遗传谱:为精准听觉健康铺平道路

Mkaouar, Rahma; Riahi, Zied; Marrakchi, Jihene; Mezzi, Nessrine; Romdhane, Lilia; Boujemaa, Maroua; Dallali, Hamza; Sayeb, Marwa; Lahbib, Saida; Jaouadi, Hajer; Boudabbous, Hela; Zekri, Lotfi; Chargui, Mariem; Messaoud, Olfa; Elyounsi, Meriem; Kraoua, Ichraf; Zaouak, Anissa; Turki, Ilhem; Mokni, Mourad; Boucher, Sophie; Petit, Christine; Giraudet, Fabrice; Mbarek, Chiraz; Besbes, Ghazi; Halayem, Soumeyya; Zainine, Rim; Turki, Hamida; Tounsi, Amel; Bonnet, Crystel; Mrad, Ridha; Abdelhak, Sonia; Trabelsi, Mediha; Charfeddine, Cherine

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

突尼斯综合征性耳聋的当前表型和遗传谱:为精准听觉健康铺平道路

Mkaouar, Rahma; Riahi, Zied; Marrakchi, Jihene; Mezzi, Nessrine; Romdhane, Lilia; Boujemaa, Maroua; Dallali, Hamza; Sayeb, Marwa; Lahbib, Saida; Jaouadi, Hager; Boudabbous, Hela; Zekri, Lotfi; Chargui, Mariem; Messaoud, Olfa; Elyounsi, Meriem; Kraoua, Ichraf; Zaouak, Anissa; Turki, Ilhem; Mokni, Mourad; Boucher, Sophie; Petit, Christine; Giraudet, Fabrice; Mbarek, Chiraz; Besbes, Ghazi; Halayem, Soumeyya; Zainine, Rim; Turki, Hamida; Tounsi, Amel; Bonnet, Crystel; Mrad, Ridha; Abdelhak, Sonia; Trabelsi, Mediha; Charfeddine, Cherine

Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies

小鼠耳蜗单细胞转录组分析:靶向治疗图谱

Jean, Philippe; Wong Jun Tai, Fabienne; Singh-Estivalet, Amrit; Lelli, Andrea; Scandola, Cyril; Megharba, Sébastien; Schmutz, Sandrine; Roux, Solène; Mechaussier, Sabrina; Sudres, Muriel; Mouly, Enguerran; Heritier, Anne-Valérie; Bonnet, Crystel; Mallet, Adeline; Novault, Sophie; Libri, Valentina; Petit, Christine; Michalski, Nicolas

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

法国Light4Deaf队列中CLRN1相关Usher 3A综合征患者的视网膜表型

Smirnov, Vasily M; Nassisi, Marco; Mohand-Saïd, Saddek; Bonnet, Crystel; Aubois, Anne; Devisme, Céline; Dib, Thilissa; Zeitz, Christina; Loundon, Natalie; Marlin, Sandrine; Petit, Christine; Bodaghi, Bahram; Sahel, José-Alain; Audo, Isabelle

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

来自多中心 Usher 综合征研究的 ADGRV1 相关视网膜色素变性特征及其与 USH2A 的比较 Treatrush

Fakin, Ana; Bonnet, Crystel; Kurtenbach, Anne; Mohand-Said, Saddek; Zobor, Ditta; Stingl, Katarina; Testa, Francesco; Simonelli, Francesca; Sahel, José-Alain; Audo, Isabelle; Zrenner, Eberhart; Hawlina, Marko; Petit, Christine