نتائج البحث - Goossens, Michel 

A new G to T polymorphism in the retinoblastoma gene RB1 detected by DGGE حسب Blanquet, Véronique, Turleau, Catherine, Goossens, Michel, Besmond, Claude

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The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease حسب Dieudé, Philippe, Goossens, Michel, Cornélis, François, Michou, Laëtitia, Bardin, Thomas

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Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling حسب Costa, Catherine, Frances, Anne-Marie, Letourneau, Sylvia, Girodon-Boulandet, Emmanuelle, Goossens, Michel

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Two cloned β thalassemia genes are associated with amber mutations at codon 39 حسب Pergolizzi, Robert, Spritz, Richard A., Spence, Sally, Goossens, Michel, Kan, Yuet Wai, Bank, Arthur

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Reply to Cooper حسب Béraud-Colomb, Eliane, Roubin, Régine, Martin, Josiane, Maroc, Nicolas, Gardeisen, Armelle, Trabuchet, Guy, Goossens, Michel

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Mowat-Wilson syndrome in a Moroccan consanguineous family حسب Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz

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Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2 حسب Baral, Viviane, Chaoui, Asma, Watanabe, Yuli, Goossens, Michel, Attie-Bitach, Tania, Marlin, Sandrine, Pingault, Veronique, Bondurand, Nadege

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Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect حسب Préhu, Claude, Moradkhani, Kamran, Riou, Jean, Bahuau, Michel, Launay, Pierre, Martin, Natacha, Wajcman, Henri, Goossens, Michel, Galactéros, Frédéric

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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4 حسب Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique

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Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease حسب Herbarth, Beate, Pingault, Veronique, Bondurand, Nadege, Kuhlbrodt, Kirsten, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Lemort, Nicole, Goossens, Michel, Wegner, Michael

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COMMD1-Mediated Ubiquitination Regulates CFTR Trafficking حسب Drévillon, Loïc, Tanguy, Gaëlle, Hinzpeter, Alexandre, Arous, Nicole, de Becdelièvre, Alix, Aissat, Abdel, Tarze, Agathe, Goossens, Michel, Fanen, Pascale

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Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia حسب Pennarun, Gaëlle, Escudier, Estelle, Chapelin, Catherine, Bridoux, Anne-Marie, Cacheux, Valère, Roger, Gilles, Clément, Annick, Goossens, Michel, Amselem, Serge, Duriez, Bénédicte

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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease حسب Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie

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Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies حسب de Becdelièvre, Alix, Costa, Catherine, LeFloch, Annick, Legendre, Marie, Jouannic, Jean-Marie, Vigneron, Jacqueline, Bresson, Jean-Luc, Gobin, Stéphanie, Martin, Josiane, Goossens, Michel, Girodon, Emmanuelle

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Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism حسب Tosca, Lucie, Brisset, Sophie, Petit, François M, Lecerf, Laure, Rousseau, Ghislaine, Bas, Cécile, Laroudie, Mireille, Maurin, Marie-Laure, Tapia, Sylvie, Picone, Olivier, Prevot, Sophie, Goossens, Michel, Labrune, Philippe, Tachdjian, Gérard

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Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23 حسب Brisset, Sophie, Slamova, Zuzana, Dusatkova, Petra, Briand-Suleau, Audrey, Milcent, Karen, Metay, Corinne, Simandlova, Martina, Sumnik, Zdenek, Tosca, Lucie, Goossens, Michel, Labrune, Philippe, Zemankova, Elsa, Lebl, Jan, Tachdjian, Gerard, Sedlacek, Zdenek

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C حسب Tosca, Lucie, Drévillon, Loïc, Mouka, Aurélie, Lecerf, Laure, Briand, Audrey, Ortonne, Valérie, Benoit, Virginie, Brisset, Sophie, Van Maldergem, Lionel, Laudouar, Quitterie, Heide, Solveig, Goossens, Michel, Giurgea, Irina, Tachdjian, Gérard, Métay, Corinne

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Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier حسب Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J., Girodon, Emmanuelle, Fanen, Pascale

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 حسب Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes حسب Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn V, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique

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