A mutation in OTOF , encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
Yasunaga, Shin'ichiro, El-Amraoui, Aziz, Salem, Nabiha, Petit, Christine, El-Zir, Elie, Loiselet, Jacques, Grati, M'hamed, Cohen-Salmon, Martine, Mustapha, Mirna
Published in Nature genetics (01.04.1999)
Published in Nature genetics (01.04.1999)
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Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22
Zwaenepoel, Ingrid, Mustapha, Mirna, Leibovici, Michel, Verpy, Elisabeth, Goodyear, Richard, Liu, Xue Zhong, Nouaille, Sylvie, Nance, Walter E., Kanaan, Moien, Avraham, Karen B., Tekaia, Fredj, Loiselet, Jacques, Lathrop, Marc, Richardson, Guy, Petit, Christine
Published in Proceedings of the National Academy of Sciences - PNAS (30.04.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (30.04.2002)
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Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects
Medlej-Hashim, Myrna, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Rawashdeh, Mohammed, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André
Published in BMC medical genetics (10.02.2004)
Published in BMC medical genetics (10.02.2004)
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Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene
Delague, Valérie, Bareil, Corinne, Tuffery, Sylvie, Bouvagnet, Patrice, Chouery, Eliane, Koussa, Salam, Maisonobe, Thierry, Loiselet, Jacques, Mégarbané, André, Claustres, Mireille
Published in American journal of human genetics (01.07.2000)
Published in American journal of human genetics (01.07.2000)
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An Isolated Cardiac Conduction Disease Maps to Chromosome 19q
de Meeus, Anne, Stephan, Edouard, Debrus, Sophie, Jean, Marie-Kamala, Loiselet, Jacques, Weissenbach, Jean, Demaille, Jacques, Bouvagnet, Patrice
Published in Circulation research (01.10.1995)
Published in Circulation research (01.10.1995)
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Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance
Tishkoff, Sarah A., Varkonyi, Robert, Cahinhinan, Nelie, Abbes, Salem, Argyropoulos, George, Destro-Bisol, Giovanni, Drousiotou, Anthi, Dangerfield, Bruce, Lefranc, Gerard, Loiselet, Jacques, Piro, Anna, Stoneking, Mark, Tagarelli, Antonio, Tagarelli, Giuseppe, Touma, Elias H., Williams, Scott M., Clark, Andrew G.
Published in Science (American Association for the Advancement of Science) (20.07.2001)
Published in Science (American Association for the Advancement of Science) (20.07.2001)
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A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25
Mustapha, Mirna, Chouery, Éliane, Torchard-Pagnez, Delphine, Nouaille, Sylvie, Khrais, Awni, Sayegh, Fouad N., Mégarbané, André, Loiselet, Jacques, Lathrop, Mark, Petit, Christine, Weil, Dominique
Published in Human genetics (01.04.2002)
Published in Human genetics (01.04.2002)
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Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD
Verrelli, Brian C., McDonald, John H., Argyropoulos, George, Destro-Bisol, Giovanni, Froment, Alain, Drousiotou, Anthi, Lefranc, Gerard, Helal, Ahmed N., Loiselet, Jacques, Tishkoff, Sarah A.
Published in American journal of human genetics (01.11.2002)
Published in American journal of human genetics (01.11.2002)
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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine
Published in Human molecular genetics (01.11.1997)
Published in Human molecular genetics (01.11.1997)
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Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
Lefranc, Gérard, Baghdiguian, Stephen, Martin, Marianne, Richard, Isabelle, Pons, Françoise, Astier, Catherine, Bourg, Nathalie, Hay, Ronald T, Chemaly, Raymond, Halaby, Georges, Loiselet, Jacques, Anderson, Louise V. B, Munain, Adolfo Lopez de, Fardeau, Michel, Mangeat, Paul, Beckmann, Jacques S
Published in Nature medicine (01.05.1999)
Published in Nature medicine (01.05.1999)
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An α-Tectorin Gene Defect Causes a Newly Identified Autosomal Recessive Form of Sensorineural Pre-Lingual Non-Syndromic Deafness, DFNB21
Mustapha, Mirna, Weil, Dominique, Chardenoux, Sébastien, Elias, Sanaa, El-Zir, Elie, Beckmann, Jacques S., Loiselet, Jacques, Petit, Christine
Published in Human molecular genetics (01.03.1999)
Published in Human molecular genetics (01.03.1999)
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Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation
Medlej-Hashim, Myrna, Chouery, Eliane, Salem, Nabiha, Delague, Valérie, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André
Published in European journal of medical genetics (01.01.2011)
Published in European journal of medical genetics (01.01.2011)
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Cost-benefit analysis of G6PD screening in Lebanese newborn males
Khneisser, Issam, Adib, Salim M, Loiselet, Jacques, Megarbane, André
Published in Maġallat al-ṭibbiyat al-lubnāniyyat (01.07.2007)
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Published in Maġallat al-ṭibbiyat al-lubnāniyyat (01.07.2007)
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X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3
Mégarbané, A, Salem, N, Stephan, E, Ashoush, R, Lenoir, D, Delague, V, Kassab, R, Loiselet, J, Bouvagnet, P
Published in European journal of human genetics : EJHG (01.09.2000)
Published in European journal of human genetics : EJHG (01.09.2000)
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Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
Medlej-Hashim, Myrna, Serre, Jean-Louis, Corbani, Sandra, Saab, Odile, Jalkh, Nadine, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Loiselet, Jacques, Lefranc, Gérard, Mégarbané, André
Published in European journal of medical genetics (01.10.2005)
Published in European journal of medical genetics (01.10.2005)
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A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25
MUSTAPHA, Mirna, CHOUERY, Eliane, WEIL, Dominique, TORCHARD-PAGNEZ, Delphine, NOUAILLE, Sylvie, KHRAIS, Awni, SAYEGH, Fouad N, MEGARBANE, André, LOISELET, Jacques, LATHROP, Mark, PETIT, Christine
Published in Human genetics (01.04.2002)
Published in Human genetics (01.04.2002)
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Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
Mustapha, Myrna, Salem, Nabiha, Delague, Valérie, Chouery, Eliane, Ghassibeh, Michella, Rai, Myriam, Loiselet, Jacques, Petit, Christine, Mégarbané, André
Published in Journal of medical genetics (01.10.2001)
Published in Journal of medical genetics (01.10.2001)
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Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
Medlej-Hashim, Myrna, Rawashdeh, Mohammed, Chouery, Eliane, Mansour, Issam, Delague, Valérie, Lefranc, Gérard, Naman, Roger, Loiselet, Jacques, Mégarbané, André
Published in Human mutation (01.04.2000)
Published in Human mutation (01.04.2000)
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DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34
Published in European journal of human genetics : EJHG
(01.03.2002)
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