未登录Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder全外显子组测序将ABHD14A和MRNIP鉴定为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 .png)
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收藏Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control studySoumbara, Tetou; Bonnet, Crystel; Hamed, Cheikh Tijani; Veten, Fatimetou; Hemeyine, Mohamed; Fall-Malick, F-Zahra; El Yezid, Mohamed Mahmoud; Diallo, Aichetou; Mounah, Moustapha Mouhamedou; Houmeida, Ahmed 分享 收藏 Single- cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapiesJean, Philippe; Tai, Fabienne Wong Jun; Singh-Estivalet, Amrit; Lelli, Andrea; Scandola, Cyril; Megharba, Sebastien; Schmutz, Sandrine; Roux, Solene; Mechaussier, Sabrina; Sudres, Muriel; Mouly, Enguerran; Heritier, Anne-Valerie; Bonnet, Crystel; Mallet, Adeline; Novault, Sophie; Libri, Valentina; Petit, Christine; Michalski, Nicolas 分享 收藏 分享 收藏 分享 收藏 Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortSmirnov, Vasily M.; Nassisi, Marco; Mohand-Said, Saddek; Bonnet, Crystel; Aubois, Anne; Devisme, Celine; Dib, Thilissa; Zeitz, Christina; Loundon, Natalie; Marlin, Sandrine; Petit, Christine; Bodaghi, Bahram; Sahel, Jose-Alain; Audo, Isabelle 分享 收藏 分享 收藏 Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis导致早发性耳聋显性形式的基因的超早期杂合致病变异是严重的老年性耳聋的基础Boucher, Sophie; Tai, Fabienne Wong Jun; Delmaghani, Sedigheh; Lelli, Andrea; Singh-Estivalet, Amrit; Dupont, Typhaine; Niasme-Grare, Magali; Michel, Vincent; Wolff, Nicolas; Bahloul, Amel; Bouyacoub, Yosra; Bouccara, Didier; Fraysse, Bernard; Deguine, Olivier; Collet, Lionel; Thai-Van, Hung; Ionescu, Eugen; Kemeny, Jean-Louis; Giraudet, Fabrice; Lavieille, Jean-Pierre; Deveze, Arnaud; Roudevitch-Pujol, Anne-Laure; Vincent, Christophe; Renard, Christian; Franco-Vidal, Valerie; Thibult-Apt, Claire; Darrouzet, Vincent; Bizaguet, Eric; Coez, Arnaud; Aschard, Hugues; Michalski, Nicolas; Lefevre, Gaelle M.; Aubois, Anne; Avan, Paul; Bonnet, Crystel; Petit, Christine 分享 收藏 A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene一个突尼斯家庭，其CYP4F22基因发生了新的突变，导致层状鱼鳞病，并且由于SLC26A4基因突变而导致儿童听力损失Sayeb, Marwa; Riahi, Zied; Laroussi, Nadia; Bonnet, Crystel; Romdhane, Lilia; Mkaouar, Rahma; Zaouak, Anissa; Marrakchi, Jihene; Abdessalem, Ghaith; Messaoud, Olfa; Bouchniba, Oussema; Ghilane, Nacer; Mokni, Mourad; Besbes, Ghazi; Yacoub-Youssef, Houda; Petit, Christine; Abdelhak, Sonia 分享 收藏 FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesPaul, Antoine; Drecourt, Anthony; Petit, Floriane; Deguine, Delphine Dupin; Vasnier, Christelle; Oufadem, Myriam; Masson, Cecile; Bonnet, Crystel; Masmoudi, Saber; Mosnier, Isabelle; Mahieu, Laurence; Bouccara, Didier; Kaplan, Josseline; Challe, Georges; Domange, Christelle; Mochel, Fanny; Sterkers, Olivier; Gerber, Sylvie; Nitschke, Patrick; Bole-Feysot, Christine; Jonard, Laurence; Gherbi, Souad; Mercati, Oriane; Ben Aissa, Ines; Lyonnet, Stanislas; Rotig, Agnes; Delahodde, Agnes; Marlin, Sandrine 分享 收藏 Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessDelmaghani, Sedigheh; Aghaie, Asadollah; Bouyacoub, Yosra; El Hachmi, Hala; Bonnet, Crystel; Riahi, Zied; Chardenoux, Sebastien; Perfettini, Isabelle; Hardelin, Jean-Pierre; Houmeida, Ahmed; Herbomel, Philippe; Petit, Christine 分享 收藏 分享 收藏 The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cellsPepermans, Elise; Michel, Vincent; Goodyear, Richard; Bonnet, Crystel; Abdi, Samia; Dupont, Typhaine; Gherbi, Souad; Holder, Muriel; Makrelouf, Mohamed; Hardelin, Jean-Pierre; Marlin, Sandrine; Zenati, Akila; Richardson, Guy; Avan, Paul; Bahloul, Amel; Petit, Christine 分享 收藏 EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafnessBehlouli, Asma; Bonnet, Crystel; Abdi, Samia; Bouaita, Aicha; Lelli, Andrea; Hardelin, Jean-Pierre; Schietroma, Cataldo; Rous, Yahia; Louha, Malek; Cheknane, Ahmed; Lebdi, Hayet; Boudjelida, Kamel; Makrelouf, Mohamed; Zenati, Akila; Petit, Christine 分享 收藏 分享 收藏 分享 收藏 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosisBonnet, Crystel; Grati, M'hamed; Marlin, Sandrine; Levilliers, Jacqueline; Hardelin, Jean-Pierre; Parodi, Marine; Niasme-Grare, Magali; Zelenika, Diana; DelePine, Marc; Feldmann, Delphine; Jonard, Laurence; El-Amraoui, Aziz; Weil, Dominique; Delobel, Bruno; Vincent, Christophe; Dollfus, Helene; Eliot, Marie-Madeleine; David, Albert; Calais, Catherine; Vigneron, Jacqueline; Montaut-Verient, Bettina; Bonneau, Dominique; Dubin, Jacques; Thauvin, Christel; Duvillard, Alain; Francannet, Christine; Mom, Thierry; Lacombe, Didier; Duriez, Francoise; Drouin-Garraud, Valerie; Thuillier-Obstoy, Marie-Francoise; Sigaudy, Sabine; Frances, Anne-Marie; Collignon, Patrick; Challe, Georges; Couderc, Remy; Lathrop, Mark; Sahel, Jose-Alain; Weissenbach, Jean; Petit, Christine; Denoyelle, Francoise 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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