Author: "Martin-Coignard, Dominique" - Searchworks@Jio Institute Digital Library Search Results

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157 results on '"Martin-Coignard, Dominique"'

1. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Author: Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, and Girirajan, Santhosh
Published: 2023
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2. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Author: Leppa, Virpi M, Kravitz, Stephanie N, Martin, Christa Lese, Andrieux, Joris, Le Caignec, Cedric, Martin-Coignard, Dominique, DyBuncio, Christina, Sanders, Stephan J, Lowe, Jennifer K, Cantor, Rita M, and Geschwind, Daniel H
Subjects: Chromosomes, Human, Pair 2, Humans, Language Development Disorders, Genetic Predisposition to Disease, Oxidoreductases, Tumor Suppressor Proteins, Untranslated Regions, Oligonucleotide Array Sequence Analysis, Odds Ratio, Risk Factors, Cohort Studies, Siblings, Gene Duplication, Sequence Deletion, Penetrance, Exons, Databases, Genetic, Female, Male, Promoter Regions, Genetic, Genome-Wide Association Study, DNA Copy Number Variations, Autism Spectrum Disorder, WW Domain-Containing Oxidoreductase, Chromosomes, Human, Pair 2, Databases, Genetic, Promoter Regions, Pediatric, Brain Disorders, Genetic Testing, Human Genome, Intellectual and Developmental Disabilities, Mental Health, Genetics, Prevention, Autism, 2.1 Biological and endogenous factors, Genetics & Heredity, Biological Sciences, Medical and Health Sciences
Abstract: Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families. We observed a higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings (odds ratio [OR] = 1.7), but the rate of de novo events was significantly lower than in simplex families. In previously characterized ASD risk loci, we identified 49 CNVs, comprising 24 inherited events, 19 de novo events, and 6 events of unknown inheritance, a significant enrichment in affected versus control individuals (OR = 3.3). In 21 of the 30 families (71%) in whom at least one affected sibling harbored an established ASD major risk CNV, including five families harboring inherited CNVs, the CNV was not shared by all affected siblings, indicating that other risk factors are contributing. We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX. The genetic architecture in multiplex families differs from that in simplex families and is complex, warranting more complete genetic characterization of larger multiplex ASD cohorts.
Published: 2016

3. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Author: Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, and Girirajan, Santhosh
Published: 2019
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4. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

Author: Smolen, Corrine, primary, Jensen, Matthew, additional, Dyer, Lisa, additional, Pizzo, Lucilla, additional, Tyryshkina, Anastasia, additional, Banerjee, Deepro, additional, Rohan, Laura, additional, Huber, Emily, additional, El Khattabi, Laila, additional, Prontera, Paolo, additional, Caberg, Jean-Hubert, additional, Van Dijck, Anke, additional, Schwartz, Charles, additional, Faivre, Laurence, additional, Callier, Patrick, additional, Mosca-Boidron, Anne-Laure, additional, Lefebvre, Mathilde, additional, Pope, Kate, additional, Snell, Penny, additional, Lockhart, Paul J., additional, Castiglia, Lucia, additional, Galesi, Ornella, additional, Avola, Emanuela, additional, Mattina, Teresa, additional, Fichera, Marco, additional, Luana Mandara, Giuseppa Maria, additional, Grazia Bruccheri, Maria, additional, Pichon, Olivier, additional, Le Caignec, Cedric, additional, Stoeva, Radka, additional, Cuinat, Silvestre, additional, Mercier, Sandra, additional, Beneteau, Claire, additional, Blesson, Sophie, additional, Nordsletten, Ashley, additional, Martin-Coignard, Dominique, additional, Sistermans, Erik, additional, Kooy, R. Frank, additional, Amor, David J., additional, Romano, Corrado, additional, Isidor, Bertrand, additional, Juusola, Jane, additional, and Girirajan, Santhosh, additional
Published: 2023
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5. Karyotype is not dead (yet)!

Author: Pasquier, Laurent, Fradin, Mélanie, Chérot, Elouan, Martin-Coignard, Dominique, Colin, Estelle, Journel, Hubert, Demurger, Florence, Akloul, Linda, Quélin, Chloé, Jauffret, Vincent, Lucas, Josette, Belaud-Rotureau, Marc-Antoine, Odent, Sylvie, and Jaillard, Sylvie
Published: 2016
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6. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Author: Jacquin, Clémence, primary, Landais, Emilie, additional, Poirsier, Céline, additional, Afenjar, Alexandra, additional, Akhavi, Ahmad, additional, Bednarek, Nathalie, additional, Bénech, Caroline, additional, Bonnard, Adeline, additional, Bosquet, Damien, additional, Burglen, Lydie, additional, Callier, Patrick, additional, Chantot‐Bastaraud, Sandra, additional, Coubes, Christine, additional, Coutton, Charles, additional, Delobel, Bruno, additional, Descharmes, Margaux, additional, Dupont, Jean‐Michel, additional, Gatinois, Vincent, additional, Gruchy, Nicolas, additional, Guterman, Sarah, additional, Heddar, Abdelkader, additional, Herissant, Lucas, additional, Heron, Delphine, additional, Isidor, Bertrand, additional, Jaeger, Pauline, additional, Jouret, Guillaume, additional, Keren, Boris, additional, Kuentz, Paul, additional, Le Caignec, Cedric, additional, Levy, Jonathan, additional, Lopez, Nathalie, additional, Manssens, Zoe, additional, Martin‐Coignard, Dominique, additional, Marey, Isabelle, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Pebrel‐Richard, Céline, additional, Pinson, Lucile, additional, Puechberty, Jacques, additional, Redon, Sylvia, additional, Sanlaville, Damien, additional, Spodenkiewicz, Marta, additional, Tabet, Anne‐Claude, additional, Verloes, Alain, additional, Vieville, Gaelle, additional, Yardin, Catherine, additional, Vialard, François, additional, and Doco‐Fenzy, Martine, additional
Published: 2022
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7. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Author: Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, and Gilbert‐Dussardier, Brigitte
Published: 2017
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8. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

Author: Schiff, Manuel, Roda, Céline, Monin, Marie-Lorraine, Arion, Alina, Barth, Magali, Bednarek, Nathalie, Bidet, Maud, Bloch, Catherine, Boddaert, Nathalie, Borgel, Delphine, Brassier, Anaïs, Brice, Alexis, Bruneel, Arnaud, Buissonnière, Roger, Chabrol, Brigitte, Chevalier, Marie-Chantal, Cormier-Daire, Valérie, De Barace, Claire, De Maistre, Emmanuel, De Saint-Martin, Anne, Dorison, Nathalie, Drouin-Garraud, Valérie, Dupré, Thierry, Echenne, Bernard, Edery, Patrick, Feillet, François, Fontan, Isabelle, Francannet, Christine, Labarthe, François, Gitiaux, Cyril, Héron, Delphine, Hully, Marie, Lamoureux, Sylvie, Martin-Coignard, Dominique, Mignot, Cyril, Morin, Gilles, Pascreau, Tiffany, Pincemaille, Olivier, Polak, Michel, Roubertie, Agathe, Thauvin-Robinet, Christel, Toutain, Annick, Viot, Géraldine, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, and De Lonlay, Pascale
Published: 2017
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9. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Author: Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, and Doco-Fenzy, Martine
Published: 2016
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10. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Author: Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, Abiusi, Emanuela (ORCID:0000-0001-9028-012X), Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, and Abiusi, Emanuela (ORCID:0000-0001-9028-012X)
Abstract: Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families. Methods Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants. Results We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes (CNTNAP1, MAGEL2, ADGRG6, ADCY6, GLDN, LGI4, LMOD3, UNC50 and SCN1A). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%). Conclusion New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes.
Published: 2022

11. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

Author: Dubourg, Christèle, Sanlaville, Damien, Doco-Fenzy, Martine, Le Caignec, Cédric, Missirian, Chantal, Jaillard, Sylvie, Schluth-Bolard, Caroline, Landais, Emilie, Boute, Odile, Philip, Nicole, Toutain, Annick, David, Albert, Edery, Patrick, Moncla, Anne, Martin-Coignard, Dominique, Vincent-Delorme, Catherine, Mortemousque, Isabelle, Duban-Bedu, Bénédicte, Drunat, Sèverine, Beri, Mylène, Mosser, Jean, Odent, Sylvie, David, Véronique, and Andrieux, Joris
Published: 2011
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12. Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

Author: Jaillard, Sylvie, Drunat, Séverine, Bendavid, Claude, Aboura, Azzedine, Etcheverry, Amandine, Journel, Hubert, Delahaye, Andrée, Pasquier, Laurent, Bonneau, Dominique, Toutain, Annick, Burglen, Lydie, Guichet, Agnès, Pipiras, Eva, Gilbert-Dussardier, Brigitte, Benzacken, Brigitte, Martin-Coignard, Dominique, Henry, Catherine, David, Albert, Lucas, Josette, Mosser, Jean, David, Véronique, Odent, Sylvie, Verloes, Alain, and Dubourg, Christèle
Published: 2010
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13. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Author: Mansour-Hendili, Lamisse, Blanchard, Anne, Le Pottier, Nelly, Roncelin, Isabelle, Lourdel, Stéphane, Treard, Cyrielle, González, Wendy, Vergara-Jaque, Ariela, Morin, Gilles, Colin, Estelle, Holder-Espinasse, Muriel, Bacchetta, Justine, Baudouin, Véronique, Benoit, Stéphane, Bérard, Etienne, Bourdat-Michel, Guylhène, Bouchireb, Karim, Burtey, Stéphane, Cailliez, Mathilde, Cardon, Gérard, Cartery, Claire, Champion, Gerard, Chauveau, Dominique, Cochat, Pierre, Dahan, Karin, De la Faille, Renaud, Debray, François-Guillaume, Dehoux, Laurenne, Deschenes, Georges, Desport, Estelle, Devuyst, Olivier, Dieguez, Stella, Emma, Francesco, Fischbach, Michel, Fouque, Denis, Fourcade, Jacques, François, Hélène, Gilbert-Dussardier, Brigitte, Hannedouche, Thierry, Houillier, Pascal, Izzedine, Hassan, Janner, Marco, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Leroy, Valérie, Loirat, Chantal, Macher, Marie-Alice, Martin-Coignard, Dominique, Morin, Denis, Niaudet, Patrick, Nivet, Hubert, Nobili, François, Novo, Robert, Faivre, Laurence, Rigothier, Claire, Roussey-Kesler, Gwenaëlle, Salomon, Remi, Schleich, Andreas, Sellier-Leclerc, Anne-Laure, Soulami, Kenza, Tiple, Aurélien, Ulinski, Tim, Vanhille, Philippe, Van Regemorter, Nicole, Jeunemaître, Xavier, and Vargas-Poussou, Rosa
Published: 2015
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14. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Author: Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, and Piton, Amélie
Published: 2014
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15. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Author: Laquerriere, Annie, primary, Jaber, Dana, additional, Abiusi, Emanuela, additional, Maluenda, Jérome, additional, Mejlachowicz, Dan, additional, Vivanti, Alexandre, additional, Dieterich, Klaus, additional, Stoeva, Radka, additional, Quevarec, Loic, additional, Nolent, Flora, additional, Biancalana, Valerie, additional, Latour, Philippe, additional, Sternberg, Damien, additional, Capri, Yline, additional, Verloes, Alain, additional, Bessieres, Bettina, additional, Loeuillet, Laurence, additional, Attie-Bitach, Tania, additional, Martinovic, Jelena, additional, Blesson, Sophie, additional, Petit, Florence, additional, Beneteau, Claire, additional, Whalen, Sandra, additional, Marguet, Florent, additional, Bouligand, Jerome, additional, Héron, Delphine, additional, Viot, Géraldine, additional, Amiel, Jeanne, additional, Amram, Daniel, additional, Bellesme, Céline, additional, Bucourt, Martine, additional, Faivre, Laurence, additional, Jouk, Pierre-Simon, additional, Khung, Suonavy, additional, Sigaudy, Sabine, additional, Delezoide, Anne-Lise, additional, Goldenberg, Alice, additional, Jacquemont, Marie-Line, additional, Lambert, Laetitia, additional, Layet, Valérie, additional, Lyonnet, Stanislas, additional, Munnich, Arnold, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Guimiot, Fabien, additional, Landrieu, Pierre, additional, Letard, Pascaline, additional, Pelluard, Fanny, additional, Perrin, Laurence, additional, Saint-Frison, Marie-Hélène, additional, Topaloglu, Haluk, additional, Trestard, Laetitia, additional, Vincent-Delorme, Catherine, additional, Amthor, Helge, additional, Barnerias, Christine, additional, Benachi, Alexandra, additional, Bieth, Eric, additional, Boucher, Elise, additional, Cormier-Daire, Valerie, additional, Delahaye-Duriez, Andrée, additional, Desguerre, Isabelle, additional, Eymard, Bruno, additional, Francannet, Christine, additional, Grotto, Sarah, additional, Lacombe, Didier, additional, Laffargue, Fanny, additional, Legendre, Marine, additional, Martin-Coignard, Dominique, additional, Mégarbané, André, additional, Mercier, Sandra, additional, Nizon, Mathilde, additional, Rigonnot, Luc, additional, Prieur, Fabienne, additional, Quélin, Chloé, additional, Ranjatoelina-Randrianaivo, Hanitra, additional, Resta, Nicoletta, additional, Toutain, Annick, additional, Verhelst, Helene, additional, Vincent, Marie, additional, Colin, Estelle, additional, Fallet-Bianco, Catherine, additional, Granier, Michèle, additional, Grigorescu, Romulus, additional, Saada, Julien, additional, Gonzales, Marie, additional, Guiochon-Mantel, Anne, additional, Bessereau, Jean-Louis, additional, Tawk, Marcel, additional, Gut, Ivo, additional, Gitiaux, Cyril, additional, and Melki, Judith, additional
Published: 2021
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16. The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine

Author: Pizzo, Lucilla, primary, Jensen, Matthew, additional, Tyryshkina, Anastasia, additional, Smolen, Corrine, additional, Taylor, Cora, additional, Rohan, Laura, additional, Huber, Emily, additional, Snell, Penny, additional, Pope, Kate, additional, Pounraja, Vijay Kumar, additional, Rosenfeld, Jill, additional, McCready, Elizabeth, additional, Zeesman, Susan, additional, Nowaczyk, Małgorzata, additional, Schwartz, Charles, additional, Keren, Boris, additional, Perrine, Charles, additional, Prontera, Paolo, additional, Van Dijck, Anke, additional, Kooy, Frank, additional, Caberg, Jean-Hubert, additional, Voorhoeve, Els, additional, Banka, Siddharth, additional, Sistermans, Erik, additional, Marle, Nathalie, additional, Renieri, Alessandra, additional, Martin-Coignard, Dominique, additional, Isidor, Bertrand, additional, Reymond, Alexandre, additional, Mannik, Katrin, additional, Andrieux, Joris, additional, Amor, David, additional, Romano, Corrado, additional, and Girirajan, Santhosh, additional
Published: 2021
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17. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

Author: Plaisancié, Julie, Bailleul-Forestier, Isabelle, Gaston, Véronique, Vaysse, Fréderic, Lacombe, Didier, Holder-Espinasse, Muriel, Abramowicz, Marc, Coubes, Christine, Plessis, Ghislaine, Faivre, Laurence, Demeer, Bénédicte, Vincent-Delorme, Catherine, Dollfus, Hélène, Sigaudy, Sabine, Guillén-Navarro, Encarna, Verloes, Alain, Jonveaux, Philippe, Martin-Coignard, Dominique, Colin, Estelle, Bieth, Eric, Calvas, Patrick, and Chassaing, Nicolas
Published: 2013
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18. OTX2 mutations contribute to the otocephaly-dysgnathia complex

Author: Chassaing, Nicolas, Sorrentino, Susanna, Davis, Erica E, Martin-Coignard, Dominique, Iacovelli, Anthony, Paznekas, William, Webb, Bryn D, Faye-Petersen, Ona, Encha-Razavi, Férechté, Lequeux, Leopoldine, Vigouroux, Adeline, Yesilyurt, Ahmet, Boyadjiev, Simeon A, Kayserili, Hülya, Loget, Philippe, Carles, Dominique, Sergi, Consolato, Puvabanditsin, Surasak, Chen, Chih-Ping, Etchevers, Heather C, Katsanis, Nicholas, Mercer, Catherine L, Calvas, Patrick, and Jabs, Ethylin Wang
Published: 2012
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19. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

Author: El Hokayem, Joyce, Huber, Céline, Couvé, Adeline, Aziza, Jacqueline, Baujat, Geneviève, Bouvier, Raymonde, Cavalcanti, Denise P, Collins, Felicity A, Cordier, Marie-Pierre, Delezoide, Anne-Lise, Gonzales, Marie, Johnson, Diana, Le Merrer, Martine, Levy-Mozziconacci, Annie, Loget, Philippe, Martin-Coignard, Dominique, Martinovic, Jelena, Mortier, Geert R, Perez, Marie-José, Roume, Joëlle, Scarano, Gioacchino, Munnich, Arnold, and Cormier-Daire, Valérie
Published: 2012
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20. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

Author: Tolchin, Dara, primary, Yeager, Jessica P., additional, Prasad, Priya, additional, Dorrani, Naghmeh, additional, Russi, Alvaro Serrano, additional, Martinez-Agosto, Julian A., additional, Haseeb, Abdul, additional, Angelozzi, Marco, additional, Santen, G.W.E., additional, Ruivenkamp, Claudia, additional, Mercimek-Andrews, Saadet, additional, Depienne, Christel, additional, Kuechler, Alma, additional, Mikat, Barbara, additional, Ludecke, Hermann-Josef, additional, Bilan, Frederic, additional, Le Guyader, Gwenael, additional, Gilbert-Dussardier, Brigitte, additional, Keren, Boris, additional, Heide, Solveig, additional, Haye, Damien, additional, Van Esch, Hilde, additional, Keldermans, Liesbeth, additional, Ortiz, Damara, additional, Lancaster, Emily, additional, Krantz, Ian D., additional, Krock, Bryan L., additional, Pechter, Kieran B., additional, Arkader, Alexandre, additional, Medne, Livija, additional, DeChene, Elizabeth T., additional, Calpena, Eduardo, additional, Melistaccio, Giada, additional, Wilkie, Andrew O.M., additional, Suri, Mohnish, additional, Foulds, Nicola, additional, Begtrup, Amber, additional, Henderson, Lindsay B., additional, Forster, Cara, additional, Reed, Patrick, additional, McDonald, Marie T., additional, McConkie-Rosell, Allyn, additional, Thevenon, Julien, additional, Le Tanno, Pauline, additional, Coutton, Charles, additional, Tsai, Anne C.H., additional, Stewart, Sarah, additional, Maver, Ales, additional, Gorazd, Rudolf, additional, Pichon, Olivier, additional, Nizon, Mathilde, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Martin-Coignard, Dominique, additional, Stoeva, Radka, additional, Lefebvre, Véronique, additional, Le Caignec, Cédric, additional, Ambrose, J.C., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, Furió-Tarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tregidgo, C., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, and Zarowiecki, M., additional
Published: 2020
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21. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Author: Lennox, Ashley L., primary, Hoye, Mariah L., additional, Jiang, Ruiji, additional, Johnson-Kerner, Bethany L., additional, Suit, Lindsey A., additional, Venkataramanan, Srivats, additional, Sheehan, Charles J., additional, Alsina, Fernando C., additional, Fregeau, Brieana, additional, Aldinger, Kimberly A., additional, Moey, Ching, additional, Lobach, Iryna, additional, Afenjar, Alexandra, additional, Babovic-Vuksanovic, Dusica, additional, Bézieau, Stéphane, additional, Blackburn, Patrick R., additional, Bunt, Jens, additional, Burglen, Lydie, additional, Campeau, Philippe M., additional, Charles, Perrine, additional, Chung, Brian H.Y., additional, Cogné, Benjamin, additional, Curry, Cynthia, additional, D’Agostino, Maria Daniela, additional, Di Donato, Nataliya, additional, Faivre, Laurence, additional, Héron, Delphine, additional, Innes, A. Micheil, additional, Isidor, Bertrand, additional, Keren, Boris, additional, Kimball, Amy, additional, Klee, Eric W., additional, Kuentz, Paul, additional, Küry, Sébastien, additional, Martin-Coignard, Dominique, additional, Mirzaa, Ghayda, additional, Mignot, Cyril, additional, Miyake, Noriko, additional, Matsumoto, Naomichi, additional, Fujita, Atsushi, additional, Nava, Caroline, additional, Nizon, Mathilde, additional, Rodriguez, Diana, additional, Blok, Lot Snijders, additional, Thauvin-Robinet, Christel, additional, Thevenon, Julien, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Dobyns, William, additional, Richards, Linda J., additional, Barkovich, A. James, additional, Floor, Stephen N., additional, Silver, Debra L., additional, and Sherr, Elliott H., additional
Published: 2020
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22. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Author: Chevarin, Martin, primary, Duffourd, Yannis, additional, A. Barnard, Rebecca, additional, Moutton, Sébastien, additional, Lecoquierre, François, additional, Daoud, Fatma, additional, Kuentz, Paul, additional, Cabret, Caroline, additional, Thevenon, Julien, additional, Gautier, Elodie, additional, Callier, Patrick, additional, St-Onge, Judith, additional, Jouan, Thibaud, additional, Lacombe, Didier, additional, Delrue, Marie Ange, additional, Goizet, Cyril, additional, Morice-Picard, Fanny, additional, Van-Gils, Julien, additional, Munnich, Arnold, additional, Lyonnet, Stanislas, additional, Cormier-Daire, Valérie, additional, Baujat, Geneviève, additional, Holder, Muriel, additional, Petit, Florence, additional, Leheup, Bruno, additional, Odent, Sylvie, additional, Jouk, Pierre-Simon, additional, Lopez, Gipsy, additional, Geneviève, David, additional, Collignon, Patrick, additional, Martin-Coignard, Dominique, additional, Jacquette, Aurélia, additional, Perrin, Laurence, additional, Putoux, Audrey, additional, Sarrazin, Elisabeth, additional, Amarof, Khadija, additional, Missotte, Isabelle, additional, Coubes, Christine, additional, Jagadeesh, Sujatha, additional, Lapi, Elisabetta, additional, Demurger, Florence, additional, Goldenberg, Alice, additional, Doco-Fenzy, Martine, additional, Mignot, Cyril, additional, Héron, Delphine, additional, Jean-Marçais, Nolwenn, additional, Masurel, Alice, additional, El Chehadeh, Salima, additional, Marle, Nathalie, additional, Huet, Frédéric, additional, Binquet, Christine, additional, Collod-Beroud, Gwenaëlle, additional, Arnaud, Pauline, additional, Hanna, Nadine, additional, Boileau, Catherine, additional, Jondeau, Guillaume, additional, Olaso, Robert, additional, Lechner, Doris, additional, Poe, Charlotte, additional, Assoum, Mirna, additional, Carmignac, Virginie, additional, Duplomb, Laurence, additional, Tran Mau-Them, Frédéric, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Bruel, Ange-Line, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Thauvin-Robinet, Christel, additional, Rivière, Jean-Baptiste, additional, O'Roak, Brian J, additional, and Faivre, Laurence, additional
Published: 2020
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23. Nephrogenic diabetes insipidus: treat with caution

Author: Boussemart, Thierry, Nsota, Jacqueline, Martin–Coignard, Dominique, and Champion, Gérard
Published: 2009
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24. Missense Mutations of Conserved Glycine Residues in Fibrillin-1 Highlight a Potential Subtype of cb-EGF-like Domains

Author: Van Kien, Philippe Khau, Baux, David, Pallares-Ruiz, Nathalie, Baudoin, Corinne, Plancke, Aurélie, Chassaing, Nicolas, Collignon, Patrick, Drouin-Garraud, Valérie, Hovnanian, Alain, Martin-Coignard, Dominique, Collod-Béroud, Gwenaëlle, Béroud, Christophe, Roux, Anne-Françoise, and Claustres, Mireille
Published: 2010
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25. Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome

Author: Isidor, Bertrand, Capito, Carmen, Paris, Françoise, Baron, Sabine, Corradini, Nadège, Cabaret, Blandine, Leclair, Marc-David, Giraud, Mathilde, Martin-Coignard, Dominique, David, Albert, Sultan, Charles, and Le Caignec, Cédric
Published: 2009

26. A second family with XLRH displays the mutation S244L in the CLCN5 gene

Author: Oudet, C., Martin-Coignard, Dominique, Pannetier, Solange, Praud, Elisabeth, Champion, Gérard, and Hanauer, André
Published: 1997
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27. TCF4 Deletions in Pitt-Hopkins Syndrome

Author: Giurgea, Irina, Missirian, Chantal, Cacciagli, Pierre, Whalen, Sandra, Fredriksen, Tessa, Gaillon, Thierry, Rankin, Julia, Mathieu-Dramard, Michele, Morin, Gilles, Martin-Coignard, Dominique, Dubourg, Christèle, Chabrol, Brigitte, Arfi, Jacqueline, Giuliano, Fabienne, Lambert, Jean Claude, Philip, Nicole, Sarda, Pierre, Villard, Laurent, Goossens, Michel, and Moncla, Anne
Published: 2008
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28. Cognitive and psychosocial profile in Silver-Russell syndrome: a first study in adults

Author: Burgevin, Mélissa, Lacroix, Agnès, Toutain, Annick, Martin-Coignard, Dominique, Vincent, Marie, Crosnier-Schoedel, Caroline, Coutinho, Virginie, Netchine, Irene, Odent, Sylvie, Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Service de génétique médicale [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Centre de référence Maladies Rares CLAD-Ouest, CHU de Rennes, Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, BURGEVIN, MÉLISSA, Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique, CHU de Rennes, Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Brest (UBO)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO)-Université de Bretagne Sud (UBS), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)
Subjects: [SHS.PSY] Humanities and Social Sciences/Psychology, [SCCO.PSYC] Cognitive science/Psychology, [SCCO.PSYC]Cognitive science/Psychology, [SHS.PSY]Humanities and Social Sciences/Psychology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

29. Cognitive profile in Silver-Russell syndrome: a first French study in adults

Author: Burgevin, Mélissa, Lacroix, Agnès, Toutain, Annick, Martin-Coignard, Dominique, Vincent, Marie, Crosnier-Schoedel, Caroline, Coutinho, Virginie, Netchine, Irene, Odent, Sylvie, Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), UMR930, Imagerie et cerveau, Université Francois Rabelais [Tours], Service de génétique, CH du Mans, Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CHU Saint-Antoine [AP-HP], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique clinique [Rennes], Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Centre de référence Maladies Rares CLAD-Ouest [Rennes], Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Brest (UBO)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO)-Université de Bretagne Sud (UBS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes (UN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), BURGEVIN, MÉLISSA, Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud
Subjects: [SHS.PSY] Humanities and Social Sciences/Psychology, [SHS.PSY]Humanities and Social Sciences/Psychology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2018

30. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Author: Geoffroy, Véronique, Stoetzel, Corinne, Scheidecker, Sophie, Schaefer, Elise, Perrault, Isabelle, Bär, Séverine, Kröll, Ariane, Delbarre, Marion, Antin, Manuela, Leuvrey, Anne-Sophie, Henry, Charline, Blanché, Hélène, Decker, Eva, Kloth, Katja, Klaus, Günter, Mache, Christoph, Martin-Coignard, Dominique, McGinn, Steven, Boland, Anne, Deleuze, Jean-François, Friant, Sylvie, Saunier, Sophie, Rozet, Jean-Michel, Bergmann, Carsten, Dollfus, Hélène, Muller, Jean, Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Génétique moléculaire, génomique, microbiologie (GMGM), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Les Hôpitaux Universitaires de Strasbourg (HUS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Néphropathies héréditaires et rein en développement (UMR_S 983), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Fondation Jean Dausset - Centre d’Etudes du Polymorphisme Humain [Paris] (CEPH), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Philipps Universität Marburg = Philipps University of Marburg, Medical University of Graz, Centre Hospitalier Le Mans (CH Le Mans), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire des Maladies Rénales Héréditaires = Laboratory of Hereditary Kidney Diseases (Equipe Inserm U1163 ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University Hospital Freiburg, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, and Hôpitaux Universitaires de Strasbourg
Subjects: Male, [SDV.GEN]Life Sciences [q-bio]/Genetics, Heterozygote, Cerebellar Ataxia, Whole Genome Sequencing, [SDV]Life Sciences [q-bio], Homozygote, copy number variation, structural variation, Exons, Alu-mediated recombination, Ciliopathies, Pedigree, Phenotype, whole-genome sequencing, Alu Elements, IFT140, Mainzer-Saldino syndrome, Databases, Genetic, Mutation, tandem duplication, Humans, Female, Carrier Proteins, Retinitis Pigmentosa
Abstract: International audience; Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts. Several hundreds of patients with a ciliopathy phenotype were screened and biallelic mutations were identified in 11 families representing 12 pathogenic variants of which seven are novel. Among those unrelated families especially with a Mainzer-Saldino syndrome, eight carried the same tandem duplication (two at the homozygous state and six at the heterozygous state). In conclusion, we demonstrated the implication of structural variations in IFT140-related diseases expanding its mutation spectrum. We also provide evidences for a unique genomic event mediated by an Alu-Alu recombination occurring on a shared haplotype. We confirm that whole-genome sequencing can be instrumental in the ability to detect structural variants for genomic disorders.
Published: 2018

31. Profil cognitif dans le syndrome de Silver-Russell : une première étude française chez les adultes

Author: Burgevin, Mélissa, Lacroix, Agnès, Toutain, Annick, Martin-Coignard, Dominique, Vincent, Marie, Crosnier-Schoedel, Caroline, Coutinho, Virginie, Netchine, Irene, Odent, Sylvie, Laboratoire de Psychologie : Cognition, Comportement, Communication (LP3C - EA1285), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de génétique, Centre Hospitalier Le Mans (CH Le Mans), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CHU Saint-Antoine [AP-HP], Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de génétique clinique [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Centre de référence Maladies Rares CLAD-Ouest [Rennes], Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, BURGEVIN, MÉLISSA, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Brest (UBO)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO)-Université de Bretagne Sud (UBS), Centre hospitalier universitaire de Nantes (CHU Nantes)-Université de Nantes (UN), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: [SHS.PSY] Humanities and Social Sciences/Psychology, [SHS.PSY]Humanities and Social Sciences/Psychology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2018

32. Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Author: Mouly, Céline, Vargas‐Poussou, Rosa, Lienhardt, Anne, Silve, Caroline, Hureaux, Marguerite, Magdelaine, Corinne, Buffet, Alexandre, Grunenwald, Solange, Kuhn, Jean-Marc, Brue, Thierry, Reznik, Yves, Tabarin, Antoine, Martin‐Coignard, Dominique, Haymann, Jean‐Philippe, Tack, Ivan, Bennet, Antoine, Caron, Philippe, Linglart, Agnès, and Vezzosi, Delphine
Subjects: DUAL-energy X-ray absorptiometry, CALCIUM-sensing receptors, OSTEOPOROSIS, RENAL colic, HUMAN chromosome abnormality diagnosis, KIDNEY stones
Abstract: Objective: Familial hypocalciuric hypercalcaemia type 1 (FHH1), related to heterozygous loss‐of‐function mutations of the calcium‐sensing receptor gene, is the main differential diagnosis for primary hyperparathyroidism. The aim of our study was to describe clinical characteristics of adult patients living in France with a genetically confirmed FHH1. Design and patients: This observational, retrospective, multicentre study included 77 adults, followed up in 32 clinical departments in France, with a genetic FHH1 diagnosis between 2001 and 2012. Results: Hypercalcaemia was diagnosed at a median age of 53 years [IQR: 38‐61]. The diagnosis was made after clinical manifestations, routine analysis or familial screening in 56, 34 and 10% of cases, respectively, (n = 58; data not available for 19 patients). Chondrocalcinosis was present in 11/51 patients (22%), bone fractures in 8/56 (14%) and renal colic in 6/55 (11%). The median serum calcium was 2.74 mmol/L [IQR: 2.63‐2.86 mmol/L], the median plasma parathyroid hormone level was 4.9 pmol/L [3.1‐7.1], and the median 24‐hour urinary calcium excretion was 2.8 mmol/24 hours [IQR: 1.9‐4.0]. Osteoporosis (dual X‐ray absorptiometry) or kidney stones (renal ultrasonography) were found in 6/38 patients (16%) and 9/32 patients (28%), respectively. Fourteen patients (18%) underwent parathyroid surgery; parathyroid adenoma was found in three patients (21%) and parathyroid hyperplasia in nine patients (64%). No correlation between genotype and phenotype was established. Conclusion: This large cohort study demonstrates that FHH1 clinical characteristics can be atypical in 33 patients (43%). Clinicians should be aware of this rare differential diagnosis in order to adopt an appropriate treatment strategy. [ABSTRACT FROM AUTHOR]
Published: 2020
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33. Shwachman-Diamond syndrome: a case report

Author: Kaabar, Mohamed, additional, Lemaire, Pierre, additional, Cussac, Vincent, additional, Besancon, Anne, additional, Martin-Coignard, Dominique, additional, Fenneteau, Odile, additional, Laribi, Kamel, additional, and Pineau-Vincent, Fabienne, additional
Published: 2018
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34. Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

Author: Lennox, Ashley L., primary, Jiang, Ruiji, additional, Suit, Lindsey, additional, Fregeau, Brieana, additional, Sheehan, Charles J., additional, Aldinger, Kimberly A., additional, Moey, Ching, additional, Lobach, Iryna, additional, Mirzaa, Ghayda, additional, Afenjar, Alexandra, additional, Babovic-Vuksanovic, Dusica, additional, Bézieau, Stéphane, additional, Blackburn, Patrick R., additional, Bunt, Jens, additional, Burglen, Lydie, additional, Charles, Perrine, additional, Chung, Brian H.Y., additional, Cogné, Benjamin, additional, DeBrosse, Suzanne, additional, Di Donato, Nataliya, additional, Faivre, Laurence, additional, Héron, Delphine, additional, Innes, A. Micheil, additional, Isidor, Bertrand, additional, Johnson-Kerner, Bethany L., additional, Keren, Boris, additional, Kimball, Amy, additional, Klee, Eric W., additional, Kuentz, Paul, additional, Küry, Sébastien, additional, Martin-Coignard, Dominique, additional, Mignot, Cyril, additional, Miyake, Noriko, additional, Nava, Caroline, additional, Nizon, Mathilde, additional, Rodriguez, Diana, additional, Blok, Lot Snijders, additional, Thauvin-Robinet, Christel, additional, Thevenon, Julien, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Dobyns, William, additional, Richards, Linda J., additional, Barkovich, A. James, additional, Floor, Stephen N., additional, Silver, Debra L., additional, and Sherr, Elliott H., additional
Published: 2018
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35. Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Author: Miguet, Marguerite, primary, Faivre, Laurence, additional, Amiel, Jeanne, additional, Nizon, Mathilde, additional, Touraine, Renaud, additional, Prieur, Fabienne, additional, Pasquier, Laurent, additional, Lefebvre, Mathilde, additional, Thevenon, Julien, additional, Dubourg, Christèle, additional, Julia, Sophie, additional, Sarret, Catherine, additional, Remerand, Ganaëlle, additional, Francannet, Christine, additional, Laffargue, Fanny, additional, Boespflug-Tanguy, Odile, additional, David, Albert, additional, Isidor, Bertrand, additional, Vigneron, Jacqueline, additional, Leheup, Bruno, additional, Lambert, Laetitia, additional, Philippe, Christophe, additional, Béri-Dexheimer, Mylène, additional, Cuisset, Jean-Marie, additional, Andrieux, Joris, additional, Plessis, Ghislaine, additional, Toutain, Annick, additional, Guibaud, Laurent, additional, Cormier-Daire, Valérie, additional, Rio, Marlene, additional, Bonnefont, Jean-Paul, additional, Echenne, Bernard, additional, Journel, Hubert, additional, Burglen, Lydie, additional, Chantot-Bastaraud, Sandrine, additional, Bienvenu, Thierry, additional, Baumann, Clarisse, additional, Perrin, Laurence, additional, Drunat, Séverine, additional, Jouk, Pierre-Simon, additional, Dieterich, Klaus, additional, Devillard, Françoise, additional, Lacombe, Didier, additional, Philip, Nicole, additional, Sigaudy, Sabine, additional, Moncla, Anne, additional, Missirian, Chantal, additional, Badens, Catherine, additional, Perreton, Nathalie, additional, Thauvin-Robinet, Christel, additional, AChro-Puce, Réseau, additional, Pedespan, Jean-Michel, additional, Rooryck, Caroline, additional, Goizet, Cyril, additional, Vincent-Delorme, Catherine, additional, Duban-Bedu, Bénédicte, additional, Bahi-Buisson, Nadia, additional, Afenjar, Alexandra, additional, Maincent, Kim, additional, Héron, Delphine, additional, Alessandri, Jean-Luc, additional, Martin-Coignard, Dominique, additional, Lesca, Gaëtan, additional, Rossi, Massimiliano, additional, Raynaud, Martine, additional, Callier, Patrick, additional, Mosca-Boidron, Anne-Laure, additional, Marle, Nathalie, additional, Coutton, Charles, additional, Satre, Véronique, additional, Caignec, Cédric Le, additional, Malan, Valérie, additional, Romana, Serge, additional, Keren, Boris, additional, Tabet, Anne-Claude, additional, Kremer, Valérie, additional, Scheidecker, Sophie, additional, Vigouroux, Adeline, additional, Lackmy-Port-Lis, Marilyn, additional, Sanlaville, Damien, additional, Till, Marianne, additional, Carneiro, Maryline, additional, Gilbert-Dussardier, Brigitte, additional, Willems, Marjolaine, additional, Van Esch, Hilde, additional, Portes, Vincent Des, additional, and El Chehadeh, Salima, additional
Published: 2018
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36. Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

Author: Pizzo, Lucilla, primary, Jensen, Matthew, additional, Polyak, Andrew, additional, Rosenfeld, Jill A., additional, Mannik, Katrin, additional, Krishnan, Arjun, additional, McCready, Elizabeth, additional, Pichon, Olivier, additional, Le Caignec, Cedric, additional, Van Dijck, Anke, additional, Pope, Kate, additional, Voorhoeve, Els, additional, Yoon, Jieun, additional, Stankiewicz, Paweł, additional, Cheung, Sau Wai, additional, Pazuchanics, Damian, additional, Huber, Emily, additional, Kumar, Vijay, additional, Kember, Rachel, additional, Mari, Francesca, additional, Curró, Aurora, additional, Castiglia, Lucia, additional, Galesi, Ornella, additional, Avola, Emanuela, additional, Mattina, Teresa, additional, Fichera, Marco, additional, Mandarà, Luana, additional, Vincent, Marie, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Bénéteau, Claire, additional, Blesson, Sophie, additional, Martin-Coignard, Dominique, additional, Mosca-Boidron, Anne-Laure, additional, Caberg, Jean-Hubert, additional, Bucan, Maja, additional, Zeesman, Susan, additional, Nowaczyk, Małgorzata J.M., additional, Lefebvre, Mathilde, additional, Faivre, Laurence, additional, Callier, Patrick, additional, Skinner, Cindy, additional, Keren, Boris, additional, Perrine, Charles, additional, Prontera, Paolo, additional, Marle, Nathalie, additional, Renieri, Alessandra, additional, Reymond, Alexandre, additional, Kooy, R Frank, additional, Isidor, Bertrand, additional, Schwartz, Charles, additional, Romano, Corrado, additional, Sistermans, Erik, additional, Amor, David J., additional, Andrieux, Joris, additional, and Girirajan, Santhosh, additional
Published: 2018
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37. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

Author: Bacrot, Séverine, primary, Mechler, Charlotte, additional, Talhi, Naima, additional, Martin-Coignard, Dominique, additional, Roth, Philippe, additional, Michot, Caroline, additional, Ichkou, Amale, additional, Alibeu, Olivier, additional, Nitschke, Patrick, additional, Thomas, Sophie, additional, Vekemans, Michel, additional, Razavi, Férechté, additional, Boutaud, Lucile, additional, and Attie-Bitach, Tania, additional
Published: 2018
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38. Dépistage prénatal non invasif (DPNI) de la trisomie 21 : bilan d’activité 2016 au centre hospitalier universitaire de Rennes

Author: Launay, Erika, primary, Nouyou, Bénédicte, additional, Le Bouar, Gwenaelle, additional, Bertorello, Isabelle, additional, D’Hervé, Dominique, additional, Aussel, Dominique, additional, Body-Bechou, Delphine, additional, Biquard, Florence, additional, Martin-Coignard, Dominique, additional, Lucas, Josette, additional, Odent, Sylvie, additional, Jaillard, Sylvie, additional, and Belaud-Rotureau, Marc-Antoine, additional
Published: 2017
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39. Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Author: Le Gall, Jessica, primary, Nizon, Mathilde, additional, Pichon, Olivier, additional, Andrieux, Joris, additional, Audebert-Bellanger, Séverine, additional, Baron, Sabine, additional, Beneteau, Claire, additional, Bilan, Frédéric, additional, Boute, Odile, additional, Busa, Tiffany, additional, Cormier-Daire, Valérie, additional, Ferec, Claude, additional, Fradin, Mélanie, additional, Gilbert-Dussardier, Brigitte, additional, Jaillard, Sylvie, additional, Jønch, Aia, additional, Martin-Coignard, Dominique, additional, Mercier, Sandra, additional, Moutton, Sébastien, additional, Rooryck, Caroline, additional, Schaefer, Elise, additional, Vincent, Marie, additional, Sanlaville, Damien, additional, Le Caignec, Cédric, additional, Jacquemont, Sébastien, additional, David, Albert, additional, and Isidor, Bertrand, additional
Published: 2017
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40. Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

Author: Demeer, Bénédicte, Andrieux, Joris, Receveur, Aline, Morin, Gilles, Petit, Florence, Julia, Sophie, Plessis, Ghislaine, Martin-Coignard, Dominique, Delobel, Bruno, Firth, Helen V., Thuresson, Ann C., Lanco dosen, Sandrine, Sjörs, Kerstin, Le caignec, Cedric, Devriendt, Koenraad, and Mathieu-Dramard, Michèle
Published: 2013
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41. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Author: Vincent, Marie, primary, Geneviève, David, additional, Ostertag, Agnès, additional, Marlin, Sandrine, additional, Lacombe, Didier, additional, Martin-Coignard, Dominique, additional, Coubes, Christine, additional, David, Albert, additional, Lyonnet, Stanislas, additional, Vilain, Catheline, additional, Dieux-Coeslier, Anne, additional, Manouvrier, Sylvie, additional, Isidor, Bertrand, additional, Jacquemont, Marie-Line, additional, Julia, Sophie, additional, Layet, Valérie, additional, Naudion, Sophie, additional, Odent, Sylvie, additional, Pasquier, Laurent, additional, Pelras, Sybille, additional, Philip, Nicole, additional, Pierquin, Geneviève, additional, Prieur, Fabienne, additional, Aboussair, Nisrine, additional, Attie-Bitach, Tania, additional, Baujat, Geneviève, additional, Blanchet, Patricia, additional, Blanchet, Catherine, additional, Dollfus, Hélène, additional, Doray, Bérénice, additional, Schaefer, Elise, additional, Edery, Patrick, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Goizet, Cyril, additional, Guichet, Agnès, additional, Herlin, Christian, additional, Lambert, Laetitia, additional, Leheup, Bruno, additional, Martinovic, Jelena, additional, Mercier, Sandra, additional, Mignot, Cyril, additional, Moutard, Marie-Laure, additional, Perez, Marie-José, additional, Pinson, Lucile, additional, Puechberty, Jacques, additional, Willems, Marjolaine, additional, Randrianaivo, Hanitra, additional, Szaskon, Kateline, additional, Toutain, Annick, additional, Verloes, Alain, additional, Vigneron, Jacqueline, additional, Sanchez, Elodie, additional, Sarda, Pierre, additional, Laplanche, Jean-Louis, additional, and Collet, Corinne, additional
Published: 2016
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42. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Author: Barat-Houari, Mouna, primary, Dumont, Bruno, additional, Fabre, Aurélie, additional, Them, Frédéric TM, additional, Alembik, Yves, additional, Alessandri, Jean-Luc, additional, Amiel, Jeanne, additional, Audebert, Séverine, additional, Baumann-Morel, Clarisse, additional, Blanchet, Patricia, additional, Bieth, Eric, additional, Brechard, Marie, additional, Busa, Tiffany, additional, Calvas, Patrick, additional, Capri, Yline, additional, Cartault, François, additional, Chassaing, Nicolas, additional, Ciorca, Vidrica, additional, Coubes, Christine, additional, David, Albert, additional, Delezoide, Anne-Lise, additional, Dupin-Deguine, Delphine, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Isidor, Bertrand, additional, Jacquemont, Marie-Line, additional, Julia, Sophie, additional, Kaplan, Josseline, additional, Lacombe, Didier, additional, Lebrun, Marine, additional, Marlin, Sandrine, additional, Martin-Coignard, Dominique, additional, Martinovic, Jelena, additional, Masurel, Alice, additional, Melki, Judith, additional, Mozelle-Nivoix, Monique, additional, Nguyen, Karine, additional, Odent, Sylvie, additional, Philip, Nicole, additional, Pinson, Lucile, additional, Plessis, Ghislaine, additional, Quélin, Chloé, additional, Shaeffer, Elise, additional, Sigaudy, Sabine, additional, Thauvin, Christel, additional, Till, Marianne, additional, Touraine, Renaud, additional, Vigneron, Jacqueline, additional, Baujat, Geneviève, additional, Cormier-Daire, Valérie, additional, Le Merrer, Martine, additional, Geneviève, David, additional, and Touitou, Isabelle, additional
Published: 2015
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43. Le syndrome de Shwachman-Diamond : à propos d'un cas.

Author: Kaabar, Mohamed, Lemaire, Pierre, Cussac, VincENt, Besancon, Anne, Martin-Coignard, Dominique, FENneteau, Odile, Laribi, Kamel, and Pineau-VincENt, FabiENne
Published: 2018
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44. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Author: Poirsier, Céline, primary, Besseau-Ayasse, Justine, additional, Schluth-Bolard, Caroline, additional, Toutain, Jérôme, additional, Missirian, Chantal, additional, Le Caignec, Cédric, additional, Bazin, Anne, additional, de Blois, Marie Christine, additional, Kuentz, Paul, additional, Catty, Marie, additional, Choiset, Agnès, additional, Plessis, Ghislaine, additional, Basinko, Audrey, additional, Letard, Pascaline, additional, Flori, Elisabeth, additional, Jimenez, Mélanie, additional, Valduga, Mylène, additional, Landais, Emilie, additional, Lallaoui, Hakima, additional, Cartault, François, additional, Lespinasse, James, additional, Martin-Coignard, Dominique, additional, Callier, Patrick, additional, Pebrel-Richard, Céline, additional, Portnoi, Marie-France, additional, Busa, Tiffany, additional, Receveur, Aline, additional, Amblard, Florence, additional, Yardin, Catherine, additional, Harbuz, Radu, additional, Prieur, Fabienne, additional, Le Meur, Nathalie, additional, Pipiras, Eva, additional, Kleinfinger, Pascale, additional, Vialard, François, additional, and Doco-Fenzy, Martine, additional
Published: 2015
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45. Mutation Update of theCLCN5Gene Responsible for Dent Disease 1

Author: Mansour-Hendili, Lamisse, primary, Blanchard, Anne, additional, Le Pottier, Nelly, additional, Roncelin, Isabelle, additional, Lourdel, Stéphane, additional, Treard, Cyrielle, additional, González, Wendy, additional, Vergara-Jaque, Ariela, additional, Morin, Gilles, additional, Colin, Estelle, additional, Holder-Espinasse, Muriel, additional, Bacchetta, Justine, additional, Baudouin, Véronique, additional, Benoit, Stéphane, additional, Bérard, Etienne, additional, Bourdat-Michel, Guylhène, additional, Bouchireb, Karim, additional, Burtey, Stéphane, additional, Cailliez, Mathilde, additional, Cardon, Gérard, additional, Cartery, Claire, additional, Champion, Gerard, additional, Chauveau, Dominique, additional, Cochat, Pierre, additional, Dahan, Karin, additional, De la Faille, Renaud, additional, Debray, François-Guillaume, additional, Dehoux, Laurenne, additional, Deschenes, Georges, additional, Desport, Estelle, additional, Devuyst, Olivier, additional, Dieguez, Stella, additional, Emma, Francesco, additional, Fischbach, Michel, additional, Fouque, Denis, additional, Fourcade, Jacques, additional, François, Hélène, additional, Gilbert-Dussardier, Brigitte, additional, Hannedouche, Thierry, additional, Houillier, Pascal, additional, Izzedine, Hassan, additional, Janner, Marco, additional, Karras, Alexandre, additional, Knebelmann, Bertrand, additional, Lavocat, Marie-Pierre, additional, Lemoine, Sandrine, additional, Leroy, Valérie, additional, Loirat, Chantal, additional, Macher, Marie-Alice, additional, Martin-Coignard, Dominique, additional, Morin, Denis, additional, Niaudet, Patrick, additional, Nivet, Hubert, additional, Nobili, François, additional, Novo, Robert, additional, Faivre, Laurence, additional, Rigothier, Claire, additional, Roussey-Kesler, Gwenaëlle, additional, Salomon, Remi, additional, Schleich, Andreas, additional, Sellier-Leclerc, Anne-Laure, additional, Soulami, Kenza, additional, Tiple, Aurélien, additional, Ulinski, Tim, additional, Vanhille, Philippe, additional, Van Regemorter, Nicole, additional, Jeunemaître, Xavier, additional, and Vargas-Poussou, Rosa, additional
Published: 2015
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46. Caractéristiques phénotypiques de l’hypercalcémie hypocalciurie familiale de type 1 : à propos de 76 observations

Author: Mouly, Céline, primary, Lienhardt, Anne, additional, Silve, Caroline, additional, Vargas-Poussou, Rosa, additional, Kuhn, Jean Marc, additional, Brue, Thierry, additional, Reznik, Yves, additional, Tabarin, Antoine, additional, Martin-Coignard, Dominique, additional, Haymann, Jean-Philippe, additional, Caron, Philippe, additional, Linglart, Agnès, additional, and Vezzosi, Delphine, additional
Published: 2015
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47. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

Author: Willems, M., Geneviève, D, Borck, G, Baumann, Clarisse, Baujat, G, Bieth, Eric, Edery, P., Farra, C, Gérard, M, Héron, Delphine, Leheup, B., Le Merrer, M, Lyonnet, S, Martin-Coignard, Dominique, Mathieu, M., Thauvin-Robinet, C., Verloes, A, Colleaux, L, Munnich, Arnold, Cormier-Daire, Valérie, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité fonctionnelle de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Dept of Pathology, American University of Beirut Medical Center, Service de génétique clinique [Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Pédiatrie médicale et médecine de l'adolescent [Amiens], CHU Amiens-Picardie, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Hospices Civils de Lyon ( HCL ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), CH Le Mans, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and Peer, Hal
Subjects: [SDV] Life Sciences [q-bio], congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Molecular genetics, Clinical genetics
Abstract: International audience; Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterized by intrauterine growth retardation, severe proportionate short stature and marked microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities and absent or mild mental retardation. Seckel syndrome is associated with defective ATR-dependent DNA damage signalling.
Published: 2009

48. Further delineation of the MECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Author: Miguet, Marguerite, Faivre, Laurence, Amiel, Jeanne, Nizon, Mathilde, Touraine, Renaud, Prieur, Fabienne, Pasquier, Laurent, Lefebvre, Mathilde, Thevenon, Julien, Dubourg, Christèle, Julia, Sophie, Sarret, Catherine, Remerand, Ganaelle, Francannet, Christine, Laffargue, Fanny, Boespflug-Tanguy, Odile, David, Albert, Isidor, Bertrand, Vigneron, Jacqueline, Leheup, Bruno, Lambert, Laetitia, Philippe, Christophe, Bèèéri-Dexheimer, Mylèène, Cuisset, Jean-Marie, Andrieux, Joris, Plessis, Ghislaine, Toutain, Annick, Guibaud, Laurent, Cormier-Daire, Valèèéérie, Rio, Marlene, Bonnefont, Jean-Paul, Echenne, Bernard, Journel, Hubert, Burglen, Lydie, Chantot-Bastaraud, Sandrine, Bienvenu, Thierry, Baumann, Clarisse, Perrin, Laurence, Drunat, Sèèéééverine, Jouk, Pierre-Simon, Dieterich, Klaus, Devillard, Francoise, Lacombe, Didier, Philip, Nicole, Sigaudy, Sabine, Moncla, Anne, Missirian, Chantal, Badens, Catherine, Perreton, Nathalie, Thauvin-Robinet, Christel, AChro-Puce, Rèèééééseau, Pedespan, Jean-Michel, Rooryck, Caroline, Goizet, Cyril, Vincent-Delorme, Catherine, Duban-Bedu, Bèèééééénèèéééééédicte, Bahi-Buisson, Nadia, Afenjar, Alexandra, Maincent, Kim, Hèèéééééééron, Delphine, Alessandri, Jean-Luc, Martin-Coignard, Dominique, Lesca, Gaetan, Rossi, Massimiliano, Raynaud, Martine, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Coutton, Charles, Satre, Vèèééééééééronique, Caignec, Cèèééééééééédric Le, Malan, Valèèéééééééééérie, Romana, Serge, Keren, Boris, Tabet, Anne-Claude, Kremer, Valèèééééééééééérie, Scheidecker, Sophie, Vigouroux, Adeline, Lackmy-Port-Lis, Marilyn, Sanlaville, Damien, Till, Marianne, Carneiro, Maryline, Gilbert-Dussardier, Brigitte, Willems, Marjolaine, Van Esch, Hilde, Portes, Vincent Des, and El Chehadeh, Salima
Abstract: The Xq28 duplication involving the MECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life.
Published: 2018
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49. Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

Author: Isidor, Bertrand, primary, Bourdeaut, Franck, additional, Lafon, Delfine, additional, Plessis, Ghislaine, additional, Lacaze, Elodie, additional, Kannengiesser, Caroline, additional, Rossignol, Sylvie, additional, Pichon, Olivier, additional, Briand, Annaig, additional, Martin-Coignard, Dominique, additional, Piccione, Maria, additional, David, Albert, additional, Delattre, Olivier, additional, Jeanpierre, Cécile, additional, Sévenet, Nicolas, additional, and Le Caignec, Cédric, additional
Published: 2012
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50. OTX2mutations contribute to the otocephaly-dysgnathia complex

Author: Chassaing, Nicolas, primary, Sorrentino, Susanna, additional, Davis, Erica E, additional, Martin-Coignard, Dominique, additional, Iacovelli, Anthony, additional, Paznekas, William, additional, Webb, Bryn D, additional, Faye-Petersen, Ona, additional, Encha-Razavi, Férechté, additional, Lequeux, Leopoldine, additional, Vigouroux, Adeline, additional, Yesilyurt, Ahmet, additional, Boyadjiev, Simeon A, additional, Kayserili, Hülya, additional, Loget, Philippe, additional, Carles, Dominique, additional, Sergi, Consolato, additional, Puvabanditsin, Surasak, additional, Chen, Chih-Ping, additional, Etchevers, Heather C, additional, Katsanis, Nicholas, additional, Mercer, Catherine L, additional, Calvas, Patrick, additional, and Jabs, Ethylin Wang, additional
Published: 2012
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