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Expertises :
- Clinique:Génétique Médicale
- Clinique:Oncogénétique

Projets


Publications


Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A

J Med Genet. 2025 01 11;:

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E,

Am J Kidney Dis. 2024 12 26;:

Sarcomas developed in patients with Lynch Syndrome are enriched in pleomorphic soft-tissue sarcomas and are sensitive to immunotherapy.

Poumeaud F, Valentin T, Fares N, Segier B, Watson S, Verret B, Tlemsani C, Penel N, Lejeune S, Firmin N, Sabouret A, Thery JC, Bonvalot S, Cottereau E, Cauchin E, Lancon A, Nambot S, Zattara H, Coudert M, Fourme E, Nogues C, Tougeron D, Prieur F, Collonge-Rame MA, Denis C, Laurent-Puig P, Chieze-Valero S, Dreyfus H, Jaffrelot M, Vande Perre P, Rochaix P, Gomez-Mascard A, Rochefort P, Campoy S, Chibon F, Lasset C, Selves J, Guimbaud R

Eur J Cancer. 2024 12 21;216:115196

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