Mutations in TREM2 lead to pure early-onset dementia without bone cysts
Chouery, Eliane, Delague, Valérie, Bergougnoux, Anne, Koussa, Salam, Serre, Jean-Louis, Mégarbané, André
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
Fauvert, Delphine, Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Bellazi, Linda, Taillandier, Agnès, Serre, Jean-Louis, de Mazancourt, Philippe, Mornet, Etienne
Published in BMC medical genetics (06.06.2009)
Published in BMC medical genetics (06.06.2009)
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Involvement of the modifier gene of a human Mendelian disorder in a negative selection process
Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge
Published in PloS one (30.10.2009)
Published in PloS one (30.10.2009)
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Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations
Jalkh, Nadine, Génin, Emmanuelle, Chouery, Eliane, Delague, Valérie, Medlej‐Hashim, Myrna, Idrac, Charles‐Antoine, Mégarbané, André, Serre, Jean‐Louis
Published in Annals of human genetics (01.01.2008)
Published in Annals of human genetics (01.01.2008)
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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne
Published in Prenatal diagnosis (01.11.2008)
Published in Prenatal diagnosis (01.11.2008)
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Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations
Brun-Heath, Isabelle, Taillandier, Agnes, Serre, Jean-Louis, Mornet, Etienne
Published in Molecular genetics and metabolism (01.03.2005)
Published in Molecular genetics and metabolism (01.03.2005)
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Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
Serre, Jean-Louis, Leutenegger, Anne-Louise, Bernheim, Alain, Fellous, Marc, Rouen, Alexandre, Siffroi, Jean-Pierre
Published in Human reproduction (Oxford) (01.03.2014)
Published in Human reproduction (Oxford) (01.03.2014)
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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation
Mornet, Etienne, Chateau, Corinne, Simon-Bouy, Brigitte, Serre, Jean-Louis
Published in Clinical genetics (01.03.1998)
Published in Clinical genetics (01.03.1998)
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Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia
Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Maillard, Stéphane, Taillandier, Agnès, Utsch, Boris, Nunes, Mark E, Serre, Jean-Louis, Mornet, Etienne
Published in European journal of medical genetics (01.09.2007)
Published in European journal of medical genetics (01.09.2007)
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Journal Article
Genome Search in Celiac Disease
Greco, Luigi, Corazza, Gino, Babron, Marie-Claude, Clot, Fabienne, Fulchignoni-Lataud, Marie-Claude, Percopo, Selvaggia, Zavattari, Patrizia, Bouguerra, Faouzi, Dib, Colette, Tosi, Roberto, Troncone, Riccardo, Ventura, Alessandro, Mantavoni, Wilma, Magazzù, Giuseppe, Gatti, Rosanna, Lazzari, Rosanna, Giunta, Annamaria, Perri, Francesco, Iacono, Giuseppe, Cardi, Ettore, de Virgiliis, Stefano, Cataldo, Francesco, De Angelis, Gianluigi, Musumeci, Salvatore, Ferrari, Roberto, Balli, Fiorella, Bardella, Maria-Teresa, Volta, Umberto, Catassi, Carlo, Torre, Giuliano, Eliaou, Jean-François, Serre, Jean-Louis, Clerget-Darpoux, Françoise
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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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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Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations
Medlej-Hashim, M, Petit, I, Adib, S, Chouery, E, Salem, N, Delague, V, Rawashdeh, M, Mansour, I, Lefranc, G, Naman, R, Loiselet, J, Lecron, J C, Serre, J L, Mégarbané, A
Published in European journal of human genetics : EJHG (01.11.2001)
Published in European journal of human genetics : EJHG (01.11.2001)
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The delta F508 mutation in mild adult forms of cystic fibrosis (CF)
Simon-Bouy, B, Mornet, E, Taillandier, A, Serre, J L, Boue, J, Boue, A
Published in Clinical genetics (01.04.1991)
Published in Clinical genetics (01.04.1991)
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