Works matching AU Blesson, Sophie

Results: 14

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

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

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

Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.

Published in:

2021

By:

Houdayer, Clara;
Ziegler, Alban;
Boussion, Françoise;
Blesson, Sophie;
Bris, Céline;
Toutain, Annick;
Biquard, Florence;
Guichet, Agnès;
Bonneau, Dominique;
Colin, Estelle

Publication type:

journal 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

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

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

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

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

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

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