Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
Cartault, François, Munier, Patrick, Jacquemont, Marie-Line, Vellayoudom, Jeannine, Doray, Bérénice, Payet, Christine, Randrianaivo, Hanitra, Laville, Jean-Marc, Munnich, Arnold, Cormier-Daire, Valérie
Published in European journal of human genetics : EJHG (01.01.2015)
Published in European journal of human genetics : EJHG (01.01.2015)
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Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
Caparrós-Martín, José A, De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A, Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E, Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A, Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5
Lerat, Justine, Bonnet, Crystel, Cartault, François, Loundon, Natalie, Jacquemont, Marie‐Line, Darcel, Françoise, Rouillon, Isabelle, Mezouaghi, Kheira, Guichet, Agnes, Litzler, Julie, Gesny, Roselyne, Gherbi, Souad, Aissa, Ines Ben, Digeon, Fabienne Saint James, Garabedian, Eréa‐Nöel, Bonnefont, Jean‐Paul, Genin, Emmanuelle, Denoyelle, Françoise, Jonard, Laurence, Marlin, Sandrine
Published in Clinical genetics (01.01.2019)
Published in Clinical genetics (01.01.2019)
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Creatine and guanidinoacetate reference values in a French population
Joncquel-Chevalier Curt, Marie, Cheillan, David, Briand, Gilbert, Salomons, Gajja S., Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Des Portes, Vincent, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Tardieu, Marc, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Published in Molecular genetics and metabolism (01.11.2013)
Published in Molecular genetics and metabolism (01.11.2013)
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Biallelic mutations of the methionyl-tRNA synthetase (MARS) cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island
Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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Genetic data analysis of 10 Y-STR loci in two ethnic groups of Asian ancestry (Gujarat and Guangdong-Fujian provinces) from Reunion Island (Indian Ocean)
Dubut, Vincent, Cartault, François, Gilles, André, Thionville, Marie-Dominique, Murail, Pascal
Published in Legal medicine (Tokyo, Japan) (01.03.2009)
Published in Legal medicine (Tokyo, Japan) (01.03.2009)
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Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia
Bandiera, Simonetta, Cartault, François, Jannot, Anne-Sophie, Hatem, Elie, Girard, Muriel, Rifai, Laila, Loiseau, Clemence, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Published in PloS one (30.01.2013)
Published in PloS one (30.01.2013)
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Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: Relationship to SFTPB
Tredano, Mohammed, Griese, Matthias, de Blic, Jacques, Lorant, Tifenn, Houdayer, Claude, Schumacher, Silja, Cartault, François, Capron, Frédérique, Boccon-Gibod, Liliane, Lacaze-Masmonteil, Thierry, Renolleau, Sylvain, Delaisi, Bertrand, Elion, Jacques, Couderc, Rémy, Bahuau, Michel
Published in American journal of medical genetics. Part A (15.06.2003)
Published in American journal of medical genetics. Part A (15.06.2003)
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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
Cartault, François, Munier, Patrick, Benko, Edgar, Desguerre, Isabelle, Hanein, Sylvain, Boddaert, Nathalie, Bandiera, Simonetta, Vellayoudom, Jeanine, Krejbich-Trotot, Pascale, Bintner, Marc, Hoarau, Jean-Jacques, Girard, Muriel, Génin, Emmanuelle, de Lonlay, Pascale, Fourmaintraux, Alain, Naville, Magali, Rodriguez, Diana, Feingold, Josué, Renouil, Michel, Munnich, Arnold, Westhof, Eric, Fähling, Michael, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Published in Proceedings of the National Academy of Sciences - PNAS (27.03.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (27.03.2012)
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Journal Article
Founder Effect in Patients with Unverricht‐Lundborg Disease on Reunion Island
Moulard, Bruno, Darcel, Françoise, Mignard, Didier, Jeanpierre, Marc, Genton, Pierre, Cartault, François, Yaouanq, Jacqueline, Roubertie, Agathe, Biraben, Arnaud, Buresi, Catherine, Malafosse, Alain
Published in Epilepsia (Copenhagen) (01.10.2003)
Published in Epilepsia (Copenhagen) (01.10.2003)
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Journal Article
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients
Cartault, François, Nava, Caroline, Malbrunot, Anne-Claire, Munier, Patrick, Hebert, Jean-Christophe, N’guyen, Patrick, Djeridi, Nadia, Pariaud, Philippe, Pariaud, Joelle, Dupuy, Aurélie, Austerlitz, Frédéric, Sarasin, Alain
Published in DNA repair (10.06.2011)
Published in DNA repair (10.06.2011)
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Barat-Houari, Mouna, Dumont, Bruno, Fabre, Aurélie, Them, Frédéric Tm, Alembik, Yves, Alessandri, Jean-Luc, Amiel, Jeanne, Audebert, Séverine, Baumann-Morel, Clarisse, Blanchet, Patricia, Bieth, Eric, Brechard, Marie, Busa, Tiffany, Calvas, Patrick, Capri, Yline, Cartault, François, Chassaing, Nicolas, Ciorca, Vidrica, Coubes, Christine, David, Albert, Delezoide, Anne-Lise, Dupin-Deguine, Delphine, El Chehadeh, Salima, Faivre, Laurence, Giuliano, Fabienne, Goldenberg, Alice, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Kaplan, Josseline, Lacombe, Didier, Lebrun, Marine, Marlin, Sandrine, Martin-Coignard, Dominique, Martinovic, Jelena, Masurel, Alice, Melki, Judith, Mozelle-Nivoix, Monique, Nguyen, Karine, Odent, Sylvie, Philip, Nicole, Pinson, Lucile, Plessis, Ghislaine, Quélin, Chloé, Shaeffer, Elise, Sigaudy, Sabine, Thauvin, Christel, Till, Marianne, Touraine, Renaud, Vigneron, Jacqueline, Baujat, Geneviève, Cormier-Daire, Valérie, Le Merrer, Martine, Geneviève, David, Touitou, Isabelle
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
Jouret, Guillaume, Egloff, Matthieu, Landais, Emilie, Tassy, Olivier, Giuliano, Fabienne, Karmous‐Benailly, Houda, Coutton, Charles, Satre, Véronique, Devillard, Françoise, Dieterich, Klaus, Vieville, Gaëlle, Kuentz, Paul, Caignec, Cédric, Beneteau, Claire, Isidor, Bertrand, Nizon, Mathilde, Callier, Patrick, Marquet, Valentine, Bieth, Eric, Lévy, Jonathan, Tabet, Anne‐Claude, Lyonnet, Stanislas, Baujat, Geneviève, Rio, Marlène, Cartault, François, Scheidecker, Sophie, Gouronc, Aurélie, Schalk, Audrey, Jacquin, Clémence, Spodenkiewicz, Marta, Angélini, Chloé, Pennamen, Perrine, Rooryck, Caroline, Doco‐Fenzy, Martine, Poirsier, Céline
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
Callebaut, Isabelle, Joubrel, Rozenn, Pissard, Serge, Kannengiesser, Caroline, Gérolami, Victoria, Ged, Cécile, Cadet, Estelle, Cartault, François, Ka, Chandran, Gourlaouen, Isabelle, Gourhant, Lénaick, Oudin, Claire, Goossens, Michel, Grandchamp, Bernard, De Verneuil, Hubert, Rochette, Jacques, Férec, Claude, Le Gac, Gérald
Published in Human molecular genetics (01.09.2014)
Published in Human molecular genetics (01.09.2014)
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The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes
Marion, Heller, Natacha, Gaitch, Brigitte, Martinez, François, Cartault, Michel, Renouil, Corinne, Theze, Emmanuelle, Girodon, Thierry, Bienvenu
Published in Journal of cystic fibrosis (01.05.2015)
Published in Journal of cystic fibrosis (01.05.2015)
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Journal Article
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
Cheillan, David, Joncquel-Chevalier Curt, Marie, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Published in Orphanet journal of rare diseases (13.12.2012)
Published in Orphanet journal of rare diseases (13.12.2012)
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mtDNA polymorphisms in five French groups: importance of regional sampling
DUBUT, Vincent, CHOLLET, Lionel, MURAIL, Pascal, CARTAULT, Francois, BERAUD-COLOMB, Eliane, SERRE, Myriam, MOGENTALE-PROFIZI, Nérina
Published in European journal of human genetics : EJHG (01.04.2004)
Published in European journal of human genetics : EJHG (01.04.2004)
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