Rezultati - Goossens, Michel 

A new G to T polymorphism in the retinoblastoma gene RB1 detected by DGGE od 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 od 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 od 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 od Pergolizzi, Robert, Spritz, Richard A., Spence, Sally, Goossens, Michel, Kan, Yuet Wai, Bank, Arthur

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Reply to Cooper od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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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