Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Simon Boussion"'
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⟩
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
https://doi.org/10.1111/cge.14123
Autor:
Simon Boussion, Sandra Whalen, Tania Attié-Bitach, Pierre-Simon Jouk, Dominique Carles, Sarah Grotto, Fabienne Escande, Florence Petit, Anne Bazin, Fanny Pelluard, Sylvie Manouvrier-Hanu, Louise Devisme, Perrine Brunelle, Yves Alembik, Céline Duhamel, Jamal Ghoumid, Thomas Smol, Charlotte Mechler, Alice Goldenberg, Laurence Loeuillet, Maryse Bonnière, Geneviève Baujat, Caroline Michot, Cyril Goizet, Philippe Carassou, Anne-Sophie Jourdain, Agnès Guichet, Audrey Putoux
Publikováno v:
Human mutationREFERENCES. 41(7)
Thrombocytopenia-absent radius (TAR) syndrome is characterized by radial defect and neonatal thrombocytopenia. It is caused by biallelic variants of RBM8A gene (1q21.1) with the association of a null allele and a hypomorphic noncoding variant. RBM8A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a906b5f14593d8f8e3346fd31711fc
https://pubmed.ncbi.nlm.nih.gov/32227665
https://pubmed.ncbi.nlm.nih.gov/32227665
Autor:
Stanislas Lyonnet, Aurélie Mezel, Simon Boussion, Thomas Smol, Maartje J Vogel, Clémence Vanlerberghe, Catherine Vincent-Delorme, Sylvie Manouvrier-Hanu, B. van der Zwaag
Publikováno v:
European Journal of Medical Genetics. 63:103839
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49aa99b5379e4d015bd04786b927411a
https://doi.org/10.1016/j.ejmg.2020.103839
https://doi.org/10.1016/j.ejmg.2020.103839