Holoprosencephaly

por Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique
Publicado 2007

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

por Mercier, Sandra, David, Véronique, Ratié, Leslie, Gicquel, Isabelle, Odent, Sylvie, Dupé, Valérie
Publicado 2013

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)

por Burel, Agnès, Mouchel, Thomas, Odent, Sylvie, Tiker, Filiz, Knebelmann, Bertrand, Pellerin, Isabelle, Guerrier, Daniel
Publicado 2006

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

por Robert, Cyrille, Pasquier, Laurent, Cohen, David, Fradin, Mélanie, Canitano, Roberto, Damaj, Léna, Odent, Sylvie, Tordjman, Sylvie
Publicado 2017

How do non-geneticist physicians deal with genetic tests? A qualitative analysis

por Pasquier, Laurent, Minguet, Guy, Moisdon-Chataigner, Sylvie, Jarno, Pascal, Denizeau, Philippe, Volf, Ginette, Odent, Sylvie, Moutel, Grégoire
Publicado 2021

Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor

por Joueidi, Yolaine, Rousselin, Aline, Rozel, Céline, Loget, Philippe, Ranchere Vince, Dominique, Odent, Sylvie, Bourdeaut, Franck, Lavoue, Vincent, Le Lous, Maela
Publicado 2018

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

por Peoc'h, Katell, Damaj, Léna, Pelletier, Romain, Lefèvre, Charles, Dubourg, Christèle, Denis, Marie-Christine, Bendavid, Claude, Odent, Sylvie, Moreau, Caroline
Publicado 2020

Psychiatric adult-onset of urea cycle disorders: A case-series

por Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François
Publicado 2017

Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology

por Jaillard, Sylvie, Akloul, Linda, Beaumont, Marion, Hamdi-Roze, Houda, Dubourg, Christele, Odent, Sylvie, Duros, Solène, Dejucq-Rainsford, Nathalie, Belaud-Rotureau, Marc-Antoine, Ravel, Célia
Publicado 2016

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

por Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë
Publicado 2020

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

por Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel
Publicado 2011

Executive functioning in adolescents and adults with Silver-Russell syndrome

por Burgevin, Mélissa, Lacroix, Agnès, Ollivier, Fanny, Bourdet, Karine, Coutant, Régis, Donadille, Bruno, Faivre, Laurence, Manouvrier-Hanu, Sylvie, Petit, Florence, Thauvin-Robinet, Christel, Toutain, Annick, Netchine, Irène, Odent, Sylvie
Publicado 2023

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

por Sénémaud, Jean, Gaudry, Marine, Jouve, Elisabeth, Blanchard, Arnaud, Milleron, Olivier, Dulac, Yves, Olivier-Faivre, Laurence, Stephan, Dominique, Odent, Sylvie, Lanéelle, Damien, Dupuis-Girod, Sophie, Jondeau, Guillaume, Bal-Theoleyre, Laurence
Publicado 2023

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

por Mouden, Charlotte, de Tayrac, Marie, Dubourg, Christèle, Rose, Sophie, Carré, Wilfrid, Hamdi-Rozé, Houda, Babron, Marie-Claude, Akloul, Linda, Héron-Longe, Bénédicte, Odent, Sylvie, Dupé, Valérie, Giet, Régis, David, Véronique
Publicado 2015

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalos...

por Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale
Publicado 2018

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

por Dykes, Iain M., Szumska, Dorota, Kuncheria, Linta, Puliyadi, Rathi, Chen, Chiann-mun, Papanayotou, Costis, Lockstone, Helen, Dubourg, Christèle, David, Véronique, Schneider, Jurgen E., Keane, Thomas M., Adams, David J., Brown, Steve D. M., Mercier, Sandra, Odent, Sylvie, Collignon, Jérôme, Bhattacharya, Shoumo
Publicado 2018

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

por Binquet, Christine, Lejeune, Catherine, Faivre, Laurence, Bouctot, Marion, Asensio, Marie-Laure, Simon, Alban, Deleuze, Jean-François, Boland, Anne, Guillemin, Francis, Seror, Valérie, Delmas, Christelle, Espérou, Hélène, Duffourd, Yannis, Lyonnet, Stanislas, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Gerard, Bénédicte, Dollfus, Hélène
Publicado 2022

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

por Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publicado 2021

The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

por Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Odent, Sylvie, Despert, Veronique, Cam, Gérard, Perdriger, Aleth, Louvrier, Camille, Cobret, Laetitia, Copin, Bruno, Chantot‐Bastaraud, Sandra, Duquesnoy, Philippe, Piterboth, William, Le Jeunne, Claire, Quenum‐Miraillet, Genevieve, Siffroi, Jean Pierre, Georgin‐Lavialle, Sophie, Grateau, Gilles, Legendre, Marie, Giurgea, Irina, Karabina, Sonia‐Athina, Amselem, Serge
Publicado 2019

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellect...

por Clayton-Smith, Jill, Bromley, Rebecca, Dean, John, Journel, Hubert, Odent, Sylvie, Wood, Amanda, Williams, Janet, Cuthbert, Verna, Hackett, Latha, Aslam, Neelo, Malm, Heli, James, Gregory, Westbom, Lena, Day, Ruth, Ladusans, Edmund, Jackson, Adam, Bruce, Iain, Walker, Robert, Sidhu, Sangeet, Dyer, Catrina, Ashworth, Jane, Hindley, Daniel, Diaz, Gemma Arca, Rawson, Myfanwy, Turnpenny, Peter
Publicado 2019