Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis

por Varnet, Léo, Léger, Agnès C., Boucher, Sophie, Bonnet, Crystel, Petit, Christine, Lorenzi, Christian
Publicado 2021

Phylogenetic analysis of Harmonin homology domains

por Colcombet-Cazenave, Baptiste, Druart, Karen, Bonnet, Crystel, Petit, Christine, Spérandio, Olivier, Guglielmini, Julien, Wolff, Nicolas
Publicado 2021

Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

por Zupan, Andrej, Fakin, Ana, Battelino, Saba, Jarc-Vidmar, Martina, Hawlina, Marko, Bonnet, Crystel, Petit, Christine, Glavač, Damjan
Publicado 2019

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

por Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Riahi, Zied, Snoussi, Khalid, Rouba, Hassan, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid
Publicado 2017

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

por Dahmani, Malika, Ammar-Khodja, Fatima, Bonnet, Crystel, Lefèvre, Gaelle M., Hardelin, Jean-Pierre, Ibrahim, Hassina, Mallek, Zahia, Petit, Christine
Publicado 2015

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

por Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber
Publicado 2016

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

por Fakin, Ana, Šuštar, Maja, Brecelj, Jelka, Bonnet, Crystel, Petit, Christine, Zupan, Andrej, Glavač, Damjan, Jarc-Vidmar, Martina, Battelino, Saba, Hawlina, Marko
Publicado 2019

Screening of BRCA1/2 variants in Mauritanian breast cancer patients

por Brahim, Selma Mohamed, Zein, Ekht Elbenina, Bonnet, Crystel, Hamed, Cheikh Tijani, Salame, Malak, Zein, Mohamed Vall, Khyatti, Meriem, Tolba, Ahmedou, Houmeida, Ahmed
Publicado 2022

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

por Ammar-Khodja, Fatima, Bonnet, Crystel, Dahmani, Malika, Ouhab, Sofiane, Lefèvre, Gaelle M, Ibrahim, Hassina, Hardelin, Jean-Pierre, Weil, Dominique, Louha, Malek, Petit, Christine
Publicado 2015

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

por 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
Publicado 2021

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma

por Hadrami, Mouna, Bonnet, Crystel, Zeitz, Christina, Veten, Fatimetou, Biya, Med, Hamed, Cheikh T., Condroyer, Christel, Wang, Panfeng, Sidi, Med Mahmoud, Cheikh, Sidi, Zhang, Qingjiong, Audo, Isabelle, Petit, Christine, Houmeida, Ahmed
Publicado 2019

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

por Behlouli, Asma, Bonnet, Crystel, Abdi, Samia, Bouaita, Aïcha, Lelli, Andrea, Hardelin, Jean-Pierre, Schietroma, Cataldo, Rous, Yahia, Louha, Malek, Cheknane, Ahmed, Lebdi, Hayet, Boudjelida, Kamel, Makrelouf, Mohamed, Zenati, Akila, Petit, Christine
Publicado 2014

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

por 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
Publicado 2022

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

por Pepermans, 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
Publicado 2014

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

por Abdi, Samia, Bahloul, Amel, Behlouli, Asma, Hardelin, Jean-Pierre, Makrelouf, Mohamed, Boudjelida, Kamel, Louha, Malek, Cheknene, Ahmed, Belouni, Rachid, Rous, Yahia, Merad, Zahida, Selmane, Djamel, Hasbelaoui, Mokhtar, Bonnet, Crystel, Zenati, Akila, Petit, Christine
Publicado 2016

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

por Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Lahbib, Saida, Bouyacoub, Yosra, Bechraoui, Rym, Marrakchi, Jihène, Hardelin, Jean-Pierre, Louha, Malek, Largueche, Leila, Ben Yahia, Salim, Kheirallah, Moncef, Elmatri, Leila, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Publicado 2015

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

por 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
Publicado 2023

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

por Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Levilliers, Jacqueline, Weil, Dominique, McElreavey, Kenneth, Boespflug, Odile Tanguy, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Publicado 2014

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

por Zeitz, Christina, Méjécase, Cécile, Michiels, Christelle, Condroyer, Christel, Wohlschlegel, Juliette, Foussard, Marine, Antonio, Aline, Démontant, Vanessa, Emmenegger, Lisa, Schalk, Audrey, Neuillé, Marion, Orhan, Elise, Augustin, Sébastien, Bonnet, Crystel, Estivalet, Amrit, Blond, Frédéric, Blanchard, Steven, Andrieu, Camille, Chantot-Bastaraud, Sandra, Léveillard, Thierry, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle
Publicado 2021

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

por Mkaouar, Rahma, Riahi, Zied, Charfeddine, Cherine, Chelly, Imen, Boudabbous, Hela, Dallali, Hamza, Bonnet, Crystel, Hechmi, Meriem, Bekri, Soumeya, Zitouna, Nadia, Zekri, Lotfi, Tounsi, Amel, Kefi, Rym, Marrakchi, Jihene, Messaoud, Olfa, Kraoua, Ichraf, Maalej, Sonia, Turki Ben Youssef, Ilhem, Ben Hmid, Ahlem, Giraudet, Fabrice, Bouchoucha, Sami, Tebib, Neji, Besbes, Ghazi, Petit, Christine, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha
Publicado 2021