Výsledky vyhledávání - "Edouard Cottereau"

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Autor: Bertrand Chesneau, Marion Aubert‐Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Lucas Fares‐Taie, Jean‐Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlène Rio, Tania Attie‐Bitach, Cécile Lesage, Dominique Thouvenin, Sylvie Odent, Godelieve Morel, Catherine Vincent‐Delorme, Odile Boute, Clémence Vanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenaël Le Guyader, Guylène Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Edouard Cottereau, Carmen Ayuso, Marta Corton‐Pérez, Laurence Bouneau, Cédric Le Caignec, Véronique Gaston, Claire Jeanton‐Scaramouche, Delphine Dupin‐Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié

Publikováno v: Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩

International audience; Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8f228d182dcdaf9574a488ec5c1bc7
https://doi.org/10.1111/cge.14123

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High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency

Autor: Zeinab Ghorbanoghli, Mariëtte van Kouwen, Birgitta Versluys, Delphine Bonnet, Christine Devalck, Julie Tinat, Danuta Januszkiewicz-Lewandowska, Consuelo Calvino Costas, Edouard Cottereau, James C H Hardwick, Katharina Wimmer, Laurence Brugieres, Chrystelle Colas, Hans F A Vasen

Publikováno v: Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Genetics

BackgroundConstitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessively inherited syndrome that is caused by biallelic pathogenic variants of the mismatch repair genes. It is characterised by the development of multiple tumours in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4d98fc2d7ce35176d8f0c99cc5226c
https://doi.org/10.1136/jmg-2022-108829

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CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

Autor: Frédéric Brioude, Edouard Cottereau, Marie-Pierre Moizard, Annick Toutain, Marie-Laure Vuillaume, Alessandra Baumer, Anita Rauch

Publikováno v: European Journal of Human Genetics. 27:663-668

Name of the disease (synonyms) Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. Name of the analysed genes or dna/chromosome segments GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a39bdf59c80ea64f61a2362d28c0d0
https://doi.org/10.1038/s41431-019-0339-z

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Identification of PITX3 mutations in individuals with various ocular developmental defects

Autor: Caroline Michot, Julie Plaisancié, Marta Corton, Edouard Cottereau, Julian Delanne, Nicolas Chassaing, Nicola K. Ragge, Jacmine Pechmeja, Celia Zazo Seco, P Calvas, Tatiana Lupasco, Carmen Ayuso

Publikováno v: Ophthalmic Genetics
Ophthalmic Genetics, Taylor & Francis, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩
Ophthalmic Genetics, 2018, 39 (3), pp.314-320. ⟨10.1080/13816810.2018.1430243⟩

Background: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b2f8c95d544a4df8f885a3915e4edb

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Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Autor: E. Hammouche, Marie-Laure Vuillaume, Marie Ange Delrue, C. Dupont, Clarisse Baumann, Edouard Cottereau, Séverine Drunat, Annick Toutain, C. Maftei, Marie-Pierre Moizard, Laurence Perrin

Publikováno v: Clinical Genetics. 93:1111-1113

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f32f3deca09c8d5db8183a01677e0052
https://doi.org/10.1111/cge.13151

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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Autor: Edouard Cottereau, Annick Toutain, Estelle Colin, Marie-Pierre Moizard, Martine Raynaud, Sandrine Vonwill, Sylvie Rossignol, Fabienne Giuliano, Udhaya Kotecha, Tiffany Busa, Marie-Laure Vuillaume, Marion Gérard, Jean-Luc Alessandri, Frédéric Brioude, Mathilde Lefevre, Laetitia Lambert, Irène Netchine, Sheela Nampoothiri

Publikováno v: Human Mutation
Human Mutation, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩
Human Mutation, Wiley, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩

International audience; Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3). Until now, GPC3 mutations have been reported in isolated cases or sma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d58b5bc5083f247eb0397c4698851db
https://doi.org/10.1002/humu.23428

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Les facteurs de risque génétiques et environnementaux des cancers de l’endomètre

Autor: Marion Gauthier-Villars, Virginie Fourchotte, Isabelle Dagousset, Bruno Buecher, Claire Senechal, Camille Elan, Dominique Stoppa-Lyonnet, Marick Laé, Antoine De Pauw, Edouard Cottereau

Publikováno v: Bulletin du Cancer. 102:256-269

Resume En France, le cancer de l’endometre est au premier rang des cancers gynecologiques, avant les cancers de l’ovaire et du col uterin. Le nombre de cas incidents pour l’annee 2012 etait estime a 7275 ; le nombre de deces imputables au cance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e33a5a4b56c90ee000a9b0066d2a3bf
https://doi.org/10.1016/j.bulcan.2015.01.006

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Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 163:92-105

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformati

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https://doi.org/10.1002/ajmg.c.31360

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[Environmental and genetic risk factors for endometrial carcinoma]

Autor: Claire, Sénéchal, Edouard, Cottereau, Antoine, de Pauw, Camille, Elan, Isabelle, Dagousset, Virginie, Fourchotte, Marion, Gauthier-Villars, Marick, Lae, Dominique, Stoppa-Lyonnet, Bruno, Buecher

Publikováno v: Bulletin du cancer. 102(3)

In France, endometrial cancer is at the first rank of gynecological cancers for cancer incidence, before ovarian and cervical cancers. In fact, the number of incident cases has been estimated to 7275 for the year 2012; the number of death due to endo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0d01981521289680f7b19b04a9049906
https://pubmed.ncbi.nlm.nih.gov/25725922

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