Found: 13

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  • Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
    By:
    • Fusaro, Mathieu;
    • Vincent, Aline;
    • Castelle, Martin;
    • Rosain, Jérémie;
    • Fournier, Benjamin;
    • Veiga-da-Cunha, Maria;
    • Kentache, Takfarinas;
    • Serre, Jill;
    • Fallet-Bianco, Catherine;
    • Delezoide, Anne-Lise;
    • Renesme, Laurent;
    • Picard, Fanny Morice;
    • Lasseaux, Eulalie;
    • Aladjidi, Nathalie;
    • Seta, Nathalie;
    • Cormier-Daire, Valérie;
    • Schaftingen, Emile van;
    • Neven, Bénédicte;
    • Moshous, Despina;
    • Blesson, Sophie
    Publication type:
    Article

  • Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
    By:
    • Van‐Gils, Julien;
    • Naudion, Sophie;
    • Toutain, Jérôme;
    • Lancelot, Gwenaelle;
    • Taine, Laurence;
    • Arveiler, Benoit;
    • Lacombe, Didier;
    • Fergelot, Patricia;
    • Attié‐Bitach, Tania;
    • Martinovic, Jelena;
    • Blesson, Sophie;
    • Demeer, Bénédicte;
    • Doray, Bérénice;
    • Gonzales, Marie;
    • Whalen, Sandra
    Publication type:
    Article

  • Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

    Published in:
    2016
    By:
    • Tessier, Aude;
    • Sarreau, Mélie;
    • Pelluard, Fanny;
    • André, Gwenaelle;
    • Blesson, Sophie;
    • Bucourt, Martine;
    • Dechelotte, Pierre;
    • Faivre, Laurence;
    • Frébourg, Thierry;
    • Goldenberg, Alice;
    • Goua, Valérie;
    • Jeanne‐Pasquier, Corinne;
    • Guimiot, Fabien;
    • Laquerriere, Annie;
    • Laurent, Nicole;
    • Lefebvre, Mathilde;
    • Loget, Philippe;
    • Maréchaud, Martine;
    • Mechler, Charlotte;
    • Perez, Marie‐Josée
    Publication type:
    journal article

  • Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

    Published in:
    2016
    By:
    • Duval, Hélène;
    • Michel‐Calemard, Laurence;
    • Gonzales, Marie;
    • Loget, Philippe;
    • Beneteau, Claire;
    • Buenerd, Annie;
    • Joubert, Madeleine;
    • Denis‐Musquer, Marielee;
    • Clemenson, Alix;
    • Chesnais, Anne‐Laure;
    • Blesson, Sophie;
    • De Pinieux, Isabelle;
    • Delezoide, Anne‐Lise;
    • Bonyhay, Gheorghe;
    • Bellanné‐Chantelot, Christine;
    • Heidet, Laurence;
    • Dupré, Florence;
    • Collardeau‐Frachon, Sophie
    Publication type:
    journal article

  • Severe X-linked chondrodysplasia punctata in nine new female fetuses.

    Published in:
    Prenatal Diagnosis, 2015, v. 35, n. 7, p. 675, doi. 10.1002/pd.4591
    By:
    • Lefebvre, Mathilde;
    • Dufernez, Fabienne;
    • Bruel, Ange‐Line;
    • Gonzales, Marie;
    • Aral, Bernard;
    • Saint‐Onge, Judith;
    • Gigot, Nadège;
    • Desir, Julie;
    • Daelemans, Caroline;
    • Jossic, Frédérique;
    • Schmitt, Sébastien;
    • Mangione, Raphaele;
    • Pelluard, Fanny;
    • Vincent‐Delorme, Catherine;
    • Labaune, Jean‐Marc;
    • Bigi, Nicole;
    • D'Olne, Dominique;
    • Delezoide, Anne‐Lise;
    • Toutain, Annick;
    • Blesson, Sophie
    Publication type:
    Article

  • Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2167, doi. 10.1002/humu.24132
    By:
    • Liu, Hui;
    • Giguet‐Valard, Anna‐Gaëlle;
    • Simonet, Thomas;
    • Szenker‐Ravi, Emmanuelle;
    • Lambert, Laetitia;
    • Vincent‐Delorme, Catherine;
    • Scheidecker, Sophie;
    • Fradin, Mélanie;
    • Morice‐Picard, Fanny;
    • Naudion, Sophie;
    • Ciorna‐Monferrato, Viorica;
    • Colin, Estelle;
    • Fellmann, Florence;
    • Blesson, Sophie;
    • Jouk, Pierre‐Simon;
    • Francannet, Christine;
    • Petit, Florence;
    • Moutton, Sébastien;
    • Lehalle, Daphné;
    • Chassaing, Nicolas
    Publication type:
    Article

  • A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

    Published in:
    2018
    By:
    • Vuillaume, Marie‐Laure;
    • Jeanne, Médéric;
    • Xue, Li;
    • Blesson, Sophie;
    • Denommé‐Pichon, Anne‐Sophie;
    • Alirol, Servane;
    • Brulard, Céline;
    • Colin, Estelle;
    • Isidor, Bertrand;
    • Gilbert‐Dussardier, Brigitte;
    • Odent, Sylvie;
    • Parent, Philippe;
    • Donnart, Audrey;
    • Redon, Richard;
    • Bézieau, Stéphane;
    • Rondard, Philippe;
    • Laumonnier, Frédéric;
    • Toutain, Annick;
    • Vuillaume, Marie-Laure;
    • Denommé-Pichon, Anne-Sophie
    Publication type:
    letter

  • Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

    Published in:
    Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
    By:
    • Adle-Biassette, Homa;
    • Saugier-Veber, Pascale;
    • Fallet-Bianco, Catherine;
    • Delezoide, Anne-Lise;
    • Razavi, Férecheté;
    • Drouot, Nathalie;
    • Bazin, Anne;
    • Beaufrère, Anne-Marie;
    • Bessières, Bettina;
    • Blesson, Sophie;
    • Bucourt, Martine;
    • Carles, Dominique;
    • Devisme, Louise;
    • Dijoud, Frédérique;
    • Fabre, Blandine;
    • Fernandez, Carla;
    • Gaillard, Dominique;
    • Gonzales, Marie;
    • Jossic, Frédérique;
    • Joubert, Madeleine
    Publication type:
    Article

  • One NF1 Mutation may Conceal Another.

    Published in:
    Genes, 2019, v. 10, n. 9, p. 633, doi. 10.3390/genes10090633
    By:
    • Pacot, Laurence;
    • Burin des Roziers, Cyril;
    • Laurendeau, Ingrid;
    • Briand-Suleau, Audrey;
    • Coustier, Audrey;
    • Mayard, Théodora;
    • Tlemsani, Camille;
    • Faivre, Laurence;
    • Thomas, Quentin;
    • Rodriguez, Diana;
    • Blesson, Sophie;
    • Dollfus, Hélène;
    • Muller, Yvon-Gauthier;
    • Parfait, Béatrice;
    • Vidaud, Michel;
    • Gilbert-Dussardier, Brigitte;
    • Yardin, Catherine;
    • Dauriat, Benjamin;
    • Derancourt, Christian;
    • Vidaud, Dominique
    Publication type:
    Article

  • Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
    By:
    • 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
    Publication type:
    Article

  • Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

    Published in:
    Human Mutation, 2015, v. 36, n. 9, p. 894, doi. 10.1002/humu.22824
    By:
    • Brioude, Frederic;
    • Netchine, Irène;
    • Praz, Francoise;
    • Jule, Marilyne;
    • Calmel, Claire;
    • Lacombe, Didier;
    • Edery, Patrick;
    • Catala, Martin;
    • Odent, Sylvie;
    • Isidor, Bertrand;
    • Lyonnet, Stanislas;
    • Sigaudy, Sabine;
    • Leheup, Bruno;
    • Audebert‐Bellanger, Séverine;
    • Burglen, Lydie;
    • Giuliano, Fabienne;
    • Alessandri, Jean‐Luc;
    • Cormier‐Daire, Valérie;
    • Laffargue, Fanny;
    • Blesson, Sophie
    Publication type:
    Article

  • Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

    Published in:
    Human Mutation, 2012, v. 33, n. 2, p. 316, doi. 10.1002/humu.21661
    By:
    • Gribouval, Olivier;
    • Morinière, Vincent;
    • Pawtowski, Audrey;
    • Arrondel, Christelle;
    • Sallinen, Satu-Leena;
    • Saloranta, Carola;
    • Clericuzio, Carol;
    • Viot, Géraldine;
    • Tantau, Julia;
    • Blesson, Sophie;
    • Cloarec, Sylvie;
    • Machet, Marie Christine;
    • Chitayat, David;
    • Thauvin, Christelle;
    • Laurent, Nicole;
    • Sampson, Julian R.;
    • Bernstein, Jonathan A;
    • Clemenson, Alix;
    • Prieur, Fabienne;
    • Daniel, Laurent
    Publication type:
    Article

  • Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature.

    Published in:
    Cytogenetic & Genome Research, 2022, v. 162, n. 1/2, p. 34, doi. 10.1159/000523916
    By:
    • El Fekih, Sahar;
    • Gueganic, Nadia;
    • Tous, Corinne;
    • Douet-Guilbert, Nathalie;
    • Blesson, Sophie;
    • Morel, Frédéric;
    • Perrin, Aurore
    Publication type:
    Article