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

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

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

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

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

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

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

by 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
Published 2014

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

by 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
Published 2016

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

by 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
Published 2014

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

by 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
Published 2015

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

by 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
Published 2014

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

by Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, 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, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
Published 2011

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

by Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine
Published 2016