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Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, Barlier A. Mougel G, et al. Among authors: giraud s. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C, Chauveau D, Richard S, Joly D, Giraud S, Olschwang S, Martin N, Saquet C, Chrétien Y, Méjean A, Correas JM, Benoît G, Colombeau P, Grünfeld JP, Junien C, Béroud C. Gallou C, et al. Among authors: giraud s. Hum Mutat. 2004 Sep;24(3):215-24. doi: 10.1002/humu.20082. Hum Mutat. 2004. PMID: 15300849
The growing family of hereditary renal cell carcinoma.
Richard S, Lidereau R, Giraud S. Richard S, et al. Among authors: giraud s. Nephrol Dial Transplant. 2004 Dec;19(12):2954-8. doi: 10.1093/ndt/gfh535. Epub 2004 Oct 26. Nephrol Dial Transplant. 2004. PMID: 15507478 Review. No abstract available.
Genetic testing in pheochromocytoma or functional paraganglioma.
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. Among authors: giraud s. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Among authors: giraud s. Hum Mutat. 2006 Jun;27(6):598. doi: 10.1002/humu.9421. Hum Mutat. 2006. PMID: 16705692
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network. Lesca G, et al. Among authors: giraud s. Genet Med. 2007 Jan;9(1):14-22. doi: 10.1097/gim.0b013e31802d8373. Genet Med. 2007. PMID: 17224686 Free article.
[Genetics and angiogenesis: the example of von Hippel-Lindau disease].
Richard S, Ladroue C, Gad S, Giraud S, Gardie B; Réseau national maladie de VHL et prédispositions héréditaires au cancer du rein de l'Institut national du cancer (INCa). Richard S, et al. Among authors: giraud s. Bull Cancer. 2007 Jul;94 Spec No:S170-9. Bull Cancer. 2007. PMID: 17846002 Review. French.
Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.
Woodward ER, Ricketts C, Killick P, Gad S, Morris MR, Kavalier F, Hodgson SV, Giraud S, Bressac-de Paillerets B, Chapman C, Escudier B, Latif F, Richard S, Maher ER. Woodward ER, et al. Among authors: giraud s. Clin Cancer Res. 2008 Sep 15;14(18):5925-30. doi: 10.1158/1078-0432.CCR-08-0608. Clin Cancer Res. 2008. PMID: 18794106
353 results