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Page 1
Germline PAX5 mutation predisposes to familial B-cell precursor acute lymphoblastic leukemia.
Duployez N, Jamrog LA, Fregona V, Hamelle C, Fenwarth L, Lejeune S, Helevaut N, Geffroy S, Caillault A, Marceau-Renaut A, Poulain S, Roche-Lestienne C, Largeaud L, Prade N, Dufrechou S, Hébrard S, Berthon C, Nelken B, Fernandes J, Villenet C, Figeac M, Gerby B, Delabesse E, Preudhomme C, Broccardo C. Duployez N, et al. Among authors: lejeune s. Blood. 2021 Mar 11;137(10):1424-1428. doi: 10.1182/blood.2020005756. Blood. 2021. PMID: 33036026 Free article. No abstract available.
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?
Imbert-Bouteille M, Gauthier-Villars M, Leroux D, Meunier I, Aerts I, Lumbroso-Le Rouic L, Lejeune S, Delnatte C, Abadie C, Pujol P, Houdayer C, Corsini C. Imbert-Bouteille M, et al. Among authors: lejeune s. Mol Genet Genomic Med. 2019 Dec;7(12):e913. doi: 10.1002/mgg3.913. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31568710 Free PMC article.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP. Buffet A, et al. Among authors: lejeune s. J Med Genet. 2020 Nov;57(11):752-759. doi: 10.1136/jmedgenet-2019-106519. Epub 2020 Jan 29. J Med Genet. 2020. PMID: 31996412 Free PMC article.
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E, Le Gal D, Girard E, Popova T, La Rosa P, Beauvallet J, Eon-Marchais S, Dondon MG, d'Enghien CD, Laugé A, Chemlali W, Raynal V, Labbé M, Bièche I, Baulande S, Bay JO, Berthet P, Caron O, Buecher B, Faivre L, Fresnay M, Gauthier-Villars M, Gesta P, Janin N, Lejeune S, Maugard C, Moutton S, Venat-Bouvet L, Zattara H, Fricker JP, Gladieff L, Coupier I; CoF-AT; GENESIS; kConFab; Chenevix-Trench G, Hall J, Vincent-Salomon A, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Renault AL, et al. Among authors: lejeune s. Breast Cancer Res. 2018 Apr 17;20(1):28. doi: 10.1186/s13058-018-0951-9. Breast Cancer Res. 2018. PMID: 29665859 Free PMC article.
Management of Pathogenic CDH1 Variant Carriers Within the FREGAT Network: A Multicentric Retrospective Study.
Bres C, Voron T, Benhaim L, Bergeat D, Parc Y, Karoui M, Genser L, Péré G, Demma JA, Bacoeur-Ouzillou O, Lebreton G, Thereaux J, Gronnier C, Dartigues P, Svrcek M, Bouzillé G, Bardier A, Brunac AC, Roche B, Darcha C, Bazille C, Doucet L, Belleannee G, Lejeune S, Buisine MP, Renaud F, Nuytens F, Benusiglio PR, Veziant J, Eveno C, Piessen G. Bres C, et al. Among authors: lejeune s. Ann Surg. 2022 Nov 1;276(5):830-837. doi: 10.1097/SLA.0000000000005626. Epub 2022 Jul 20. Ann Surg. 2022. PMID: 35856494 Free article.
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Guérin C, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E. Sebai M, et al. Among authors: lejeune s. Hum Mutat. 2022 Mar;43(3):316-327. doi: 10.1002/humu.24313. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 34882875
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP. Leclerc J, et al. Among authors: lejeune s. Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790873 Free article.
174 results