39 results on '"Martin-Coignard, Dominique"'
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2. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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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
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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.
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- 2016
3. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
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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
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- 2019
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4. Karyotype is not dead (yet)!
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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
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- 2016
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5. 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
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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
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- 2017
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6. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
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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
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- 2016
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7. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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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.
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- 2022
8. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
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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
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- 2011
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9. Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
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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
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- 2010
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10. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
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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
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- 2014
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11. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
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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
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- 2021
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12. OTX2 mutations contribute to the otocephaly-dysgnathia complex
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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
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- 2012
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13. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
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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
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- 2012
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14. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
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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
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- 2020
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15. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
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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
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- 2020
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16. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
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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
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- 2020
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17. Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome
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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
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- 2009
18. A second family with XLRH displays the mutation S244L in the CLCN5 gene
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Oudet, C., Martin-Coignard, Dominique, Pannetier, Solange, Praud, Elisabeth, Champion, Gérard, and Hanauer, André
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- 1997
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19. Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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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
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- 2018
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20. Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
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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
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- 2017
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21. Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
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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
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- 2013
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22. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
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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
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- 2016
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23. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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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
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- 2015
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24. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
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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
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- 2015
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25. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families
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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
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[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.
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- 2009
26. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
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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, Chassaing, Nicolas, 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
- Abstract
Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (WNT10A, EDAR, or more rarely EDARADD). We have screened for mutations in EDAR (commonly involved in the hypohidrotic form) and WNT10A (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for EDA molecular screening, which failed to identify any mutation. We identified eight EDAR mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 WNT10A mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with EDAR and WNT10A mutations and underlines the importance of the implication of WNT10A among patients with ED. © 2013 Wiley Periodicals, Inc., SCOPUS: ar.j, info:eu-repo/semantics/published
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- 2013
27. Further delineation of the MECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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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.
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- 2018
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28. Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
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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
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- 2012
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29. OTX2mutations contribute to the otocephaly-dysgnathia complex
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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
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- 2012
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30. NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
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El Hokayem, Joyce, primary, Huber, Céline, additional, Couvé, Adeline, additional, Aziza, Jacqueline, additional, Baujat, Geneviève, additional, Bouvier, Raymonde, additional, Cavalcanti, Denise P, additional, Collins, Felicity A, additional, Cordier, Marie-Pierre, additional, Delezoide, Anne-Lise, additional, Gonzales, Marie, additional, Johnson, Diana, additional, Le Merrer, Martine, additional, Levy-Mozziconacci, Annie, additional, Loget, Philippe, additional, Martin-Coignard, Dominique, additional, Martinovic, Jelena, additional, Mortier, Geert R, additional, Perez, Marie-José, additional, Roume, Joëlle, additional, Scarano, Gioacchino, additional, Munnich, Arnold, additional, and Cormier-Daire, Valérie, additional
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- 2012
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31. A new mutation in TP63 is associated with age-related pathology
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Holder-Espinasse, Muriel, primary, Martin-Coignard, Dominique, additional, Escande, Fabienne, additional, and Manouvrier-Hanu, Sylvie, additional
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- 2007
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32. Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort
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Hichri, Haifa, primary, Stoetzel, Corinne, additional, Laurier, Virginie, additional, Caron, Solenne, additional, Sigaudy, Sabine, additional, Sarda, Pierre, additional, Hamel, Christian, additional, Martin-Coignard, Dominique, additional, Gilles, Morin, additional, Leheup, Bruno, additional, Holder, Mureille, additional, Kaplan, Josseline, additional, Bitoun, Pierre, additional, Lacombe, Didier, additional, Verloes, Alain, additional, Bonneau, Dominique, additional, Perrin-Schmitt, Fabienne, additional, Brandt, Christian, additional, Besancon, Anne-Françoise, additional, Mandel, Jean-Louis, additional, Cossée, Mireille, additional, and Dollfus, Hélène, additional
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- 2005
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33. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
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Gerber, Sylvie, primary, Perrault, Isabelle, additional, Hanein, Sylvain, additional, Barbet, Fabienne, additional, Ducroq, Dominique, additional, Ghazi, Imad, additional, Martin-Coignard, Dominique, additional, Leowski, Corinne, additional, Homfray, Tessa, additional, Dufier, Jean-Louis, additional, Munnich, Arnold, additional, Kaplan, Josseline, additional, and Rozet, Jean-Michel, additional
- Published
- 2001
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34. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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Barat-Houari, Mouna, Dumont, Bruno, Fabre, Aurélie, Them, Frédéric TM, Alembik, Yves, Alessandri, Jean-Luc, Amiel, Jeanne, Audebert, Séverine, Baumann-Morel, Clarisse, Blanchet, Patricia, Bieth, Eric, Brechard, Marie, Busa, Tiffany, Calvas, Patrick, Capri, Yline, Cartault, François, Chassaing, Nicolas, Ciorca, Vidrica, Coubes, Christine, David, Albert, Delezoide, Anne-Lise, Dupin-Deguine, Delphine, El Chehadeh, Salima, Faivre, Laurence, Giuliano, Fabienne, Goldenberg, Alice, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Kaplan, Josseline, Lacombe, Didier, Lebrun, Marine, Marlin, Sandrine, Martin-Coignard, Dominique, Martinovic, Jelena, Masurel, Alice, Melki, Judith, Mozelle-Nivoix, Monique, Nguyen, Karine, Odent, Sylvie, Philip, Nicole, Pinson, Lucile, Plessis, Ghislaine, Quélin, Chloé, Shaeffer, Elise, Sigaudy, Sabine, Thauvin, Christel, Till, Marianne, Touraine, Renaud, Vigneron, Jacqueline, Baujat, Geneviève, Cormier-Daire, Valérie, Le Merrer, Martine, Geneviève, David, and Touitou, Isabelle
- Abstract
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype–phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.
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- 2016
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35. Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
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Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, and Le Caignec, Cédric
- Subjects
NEPHROBLASTOMA ,SYNDROMES ,NONSENSE mutation ,DNA analysis ,BLOOD testing ,PATIENTS - Abstract
Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene. Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by array comparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients with overgrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findings strongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have a role in the pathogenesis of nephroblastomas. [ABSTRACT FROM AUTHOR]
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- 2013
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36. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
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Hokayem, Joyce El, 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, and Roume, Joëlle
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HOLOPROSENCEPHALY ,CRANIOFACIAL abnormalities ,FACIAL abnormalities ,FETAL brain abnormalities ,TIBIA - Abstract
Background The lethal short rib polydactyly syndromes (SRP type IeIV) are characterised by notably short ribs, short limbs, polydactyly, multiple anomalies of major organs, and autosomal recessive mode of inheritance. Among them, SRP type II (Majewski; MIM 263520) is characterised by short ovoid tibiae or tibial agenesis and is radiographically closely related to SRP type IV (Beemer-Langer; MIM 269860) which is distinguished by bowed radii and ulnae and relatively well tubulated tibiae. NEK1 mutations have been recently identified in SRP type II. Double heterozygosity for mutations in both NEK1 and DYNC2H1 in one SRP type II case supported possible digenic diallelic inheritance. Methods The aim of this study was to screen DYNC2H1 and NEK1 in 13 SRP type II cases and seven SRP type IV cases. It was not possible to screen DYNC2H1 in two patients due to insufficient amount of DNA. Results The study identified homozygous NEK1 mutations in 5/13 SRP type II and compound heterozygous DYNC2H1 mutations in 4/12 cases. Finally, NEK1 and DYNC2H1 were excluded in 3/12 SRP type II and in all SRP type IV cases. The main difference between the mutation positive SRP type II group and the mutation negative SRP type II group was the presence of holoprosencephaly and polymycrogyria in the mutation negative group. Conclusion This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity. [ABSTRACT FROM AUTHOR]
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- 2012
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37. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
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Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, and Melki J
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- Genomics, Humans, Pedigree, Phenotype, Proteins genetics, Transcription Factors genetics, Exome Sequencing, Arthrogryposis diagnosis, Arthrogryposis genetics, Arthrogryposis pathology
- 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., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2022
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38. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
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Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, and El Chehadeh S
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, X genetics, Developmental Disabilities complications, Developmental Disabilities genetics, Developmental Disabilities physiopathology, Epilepsy complications, Epilepsy genetics, Epilepsy physiopathology, Exotropia complications, Exotropia physiopathology, France epidemiology, Humans, Hyperopia complications, Hyperopia genetics, Hyperopia physiopathology, Hypertension, Pulmonary complications, Hypertension, Pulmonary physiopathology, Infant, Intellectual Disability complications, Intellectual Disability physiopathology, Male, Mental Retardation, X-Linked complications, Mental Retardation, X-Linked physiopathology, Pedigree, Phenotype, Somatosensory Disorders genetics, Somatosensory Disorders physiopathology, Stereotypic Movement Disorder complications, Stereotypic Movement Disorder genetics, Stereotypic Movement Disorder physiopathology, Young Adult, Exotropia genetics, Hypertension, Pulmonary genetics, Intellectual Disability genetics, Mental Retardation, X-Linked genetics, Methyl-CpG-Binding Protein 2 genetics
- Abstract
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) 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 MECP2 duplication. 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 MECP2 duplication 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., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
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- 2018
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39. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
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Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, and Veneri D
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- Adult, Female, Humans, Infant, Newborn, Pregnancy, Pregnancy Complications, Hematologic genetics, Retrospective Studies, Thrombocytopenia genetics, Young Adult, Pregnancy Complications, Hematologic diagnosis, Pregnancy Complications, Hematologic epidemiology, Thrombocytopenia diagnosis, Thrombocytopenia epidemiology
- Abstract
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 10(9)/L., (Copyright© Ferrata Storti Foundation.)
- Published
- 2014
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