Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessières, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, Failler, Marion, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Nizon, Mathilde, Elkhartoufi, Nadia, Clerget-Darpoux, Françoise, Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Saunier, Sophie, Cormier-Daire, Valérie, Attié-Bitach, Tania, Thomas, Sophie
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Journal Article
New classification of HLA–DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility
du Montcel, Sophie Tezenas, Michou, Laetitia, Petit‐Teixeira, Elisabeth, Osorio, José, Lemaire, Isabelle, Lasbleiz, Sandra, Pierlot, Céline, Quillet, Patrick, Bardin, Thomas, Prum, Bernard, Cornelis, François, Clerget‐Darpoux, Françoise
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.04.2005)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.04.2005)
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Journal Article
HLA related genetic risk for coeliac disease
Bourgey, Mathieu, Calcagno, Giuseppe, Tinto, Nadia, Gennarelli, Daniela, Margaritte-Jeannin, Patricia, Greco, Luigi, Limongelli, Maria Giovanna, Esposito, Oscar, Marano, Caterina, Troncone, Riccardo, Spampanato, Antonella, Clerget-Darpoux, Francoise, Sacchetti, Lucia
Published in Gut (01.08.2007)
Published in Gut (01.08.2007)
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Journal Article
Power of genome-wide association studies in the presence of interacting loci
Pickrell, Joseph, Clerget-Darpoux, Françoise, Bourgain, Catherine
Published in Genetic epidemiology (01.11.2007)
Published in Genetic epidemiology (01.11.2007)
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Journal Article
Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome
Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick
Published in American journal of human genetics (01.07.2006)
Published in American journal of human genetics (01.07.2006)
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Journal Article
Validation of the reshaped shared epitope HLA-DRB1 classification in rheumatoid arthritis
Michou, Laëtitia, Croiseau, Pascal, Petit-Teixeira, Elisabeth, du Montcel, Sophie Tezenas, Lemaire, Isabelle, Pierlot, Céline, Osorio, José, Frigui, Wafa, Lasbleiz, Sandra, Quillet, Patrick, Bardin, Thomas, Prum, Bernard, Clerget-Darpoux, Françoise, Cornélis, François
Published in Arthritis research & therapy (01.01.2006)
Published in Arthritis research & therapy (01.01.2006)
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Journal Article
Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
Edery, Patrick, Marcaillou, Charles, Sahbatou, Mourad, Labalme, Audrey, Chastang, Joelle, Touraine, Renaud, Tubacher, Emmanuel, Senni, Faiza, Bober, Michael B., Nampoothiri, Sheela, Jouk, Pierre-Simon, Steichen, Elisabeth, Berland, Siren, Toutain, Annick, Wise, Carol A., Sanlaville, Damien, Rousseau, Francis, Clerget-Darpoux, Françoise, Leutenegger, Anne-Louise
Published in Science (American Association for the Advancement of Science) (08.04.2011)
Published in Science (American Association for the Advancement of Science) (08.04.2011)
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Journal Article
Identifying modifier genes of monogenic disease: strategies and difficulties
Génin, Emmanuelle, Feingold, Josué, Clerget-Darpoux, Françoise
Published in Human genetics (01.11.2008)
Published in Human genetics (01.11.2008)
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Journal Article
Functional variants of POC5 identified in patients with idiopathic scoliosis
Patten, Shunmoogum A, Margaritte-Jeannin, Patricia, Bernard, Jean-Claude, Alix, Eudeline, Labalme, Audrey, Besson, Alicia, Girard, Simon L, Fendri, Khaled, Fraisse, Nicolas, Biot, Bernard, Poizat, Coline, Campan-Fournier, Amandine, Abelin-Genevois, Kariman, Cunin, Vincent, Zaouter, Charlotte, Liao, Meijiang, Lamy, Raphaelle, Lesca, Gaetan, Menassa, Rita, Marcaillou, Charles, Letexier, Melanie, Sanlaville, Damien, Berard, Jerome, Rouleau, Guy A, Clerget-Darpoux, Françoise, Drapeau, Pierre, Moldovan, Florina, Edery, Patrick
Published in The Journal of clinical investigation (01.03.2015)
Published in The Journal of clinical investigation (01.03.2015)
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Journal Article
The ordered transmission disequilibrium test: detection of modifier genes
Perdry, Hervé, Babron, Marie-Claude, Clerget-Darpoux, Françoise
Published in Genetic epidemiology (01.01.2009)
Published in Genetic epidemiology (01.01.2009)
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Journal Article
Is the Saitohin gene involved in neurodegenerative diseases?
Verpillat, Patrice, Ricard, Sylvain, Hannequin, Didier, Dubois, Bruno, Bou, Jacqueline, Camuzat, Agnès, Pradier, Laurent, Frebourg, Thierry, Brice, Alexis, Clerget-Darpoux, Françoise, Deleuze, Jean-François, Campion, Dominique
Published in Annals of neurology (01.12.2002)
Published in Annals of neurology (01.12.2002)
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Journal Article
Impact of parental relationships in maximum lod score affected sib-pair method
Leutenegger, Anne-Louise, Génin, Emmanuelle, Thompson, Elizabeth A., Clerget-Darpoux, Françoise
Published in Genetic epidemiology (01.11.2002)
Published in Genetic epidemiology (01.11.2002)
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Journal Article
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum
Campion, Dominique, Dumanchin, Cécile, Hannequin, Didier, Dubois, Bruno, Belliard, Serge, Puel, Michèle, Thomas-Anterion, Catherine, Michon, Agnès, Martin, Cosette, Charbonnier, Françoise, Raux, Grégory, Camuzat, Agnès, Penet, Christiane, Mesnage, Valérie, Martinez, Maria, Clerget-Darpoux, Françoise, Brice, Alexis, Frebourg, Thierry
Published in American journal of human genetics (01.09.1999)
Published in American journal of human genetics (01.09.1999)
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Journal Article
Estimation of the Inbreeding Coefficient through Use of Genomic Data
Leutenegger, Anne-Louise, Prum, Bernard, Génin, Emmanuelle, Verny, Christophe, Lemainque, Arnaud, Clerget-Darpoux, Françoise, Thompson, Elizabeth A.
Published in American journal of human genetics (01.09.2003)
Published in American journal of human genetics (01.09.2003)
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Journal Article
Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4
Yang, Qiong, Biernacka, Joanna M., Chen, Ming-Huei, Houwing-Duistermaat, Jeanine J., Bergemann, Tracy L., Basu, Saonli, Fan, Ruzong, Liu, Lian, Bourgey, Mathieu, Clerget-Darpoux, Françoise, Lin, Wan-Yu, Elston, Robert C., Cupples, L. Adrienne
Published in Genetic epidemiology (2007)
Published in Genetic epidemiology (2007)
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