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Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Hum Mol Genet. 1997 Apr;6(4):583-6. doi: 10.1093/hmg/6.4.583.
Hum Mol Genet. 1997.
PMID: 9097962
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q.
Vaxillaire M, Boccio V, Philippi A, Vigouroux C, Terwilliger J, Passa P, Beckmann JS, Velho G, Lathrop GM, Froguel P.
Vaxillaire M, et al. Among authors: boccio v.
Nat Genet. 1995 Apr;9(4):418-23. doi: 10.1038/ng0495-418.
Nat Genet. 1995.
PMID: 7795649
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Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q.
Velho G, Vaxillaire M, Boccio V, Charpentier G, Froguel P.
Velho G, et al. Among authors: boccio v.
Diabetes Care. 1996 Sep;19(9):915-9. doi: 10.2337/diacare.19.9.915.
Diabetes Care. 1996.
PMID: 8875082
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Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.
Legrand A, Cornez L, Samkari W, Mazzella JM, Venisse A, Boccio V, Auribault K, Keren B, Benistan K, Germain DP, Frank M, Jeunemaitre X, Albuisson J.
Legrand A, et al. Among authors: boccio v.
Genet Med. 2017 Aug;19(8):909-917. doi: 10.1038/gim.2016.213. Epub 2017 Jan 19.
Genet Med. 2017.
PMID: 28102862
Free article.
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The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension.
Hureaux M, Mazurkiewicz S, Boccio V, Vargas-Poussou R, Jeunemaitre X.
Hureaux M, et al. Among authors: boccio v.
Kidney Int Rep. 2021 Aug 2;6(10):2639-2652. doi: 10.1016/j.ekir.2021.07.025. eCollection 2021 Oct.
Kidney Int Rep. 2021.
PMID: 34622103
Free PMC article.
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A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP.
Buffet A, et al. Among authors: boccio v.
Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19.
Horm Metab Res. 2012.
PMID: 22517557
Review.
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R.
Godron A, et al. Among authors: boccio v.
Clin J Am Soc Nephrol. 2012 May;7(5):801-9. doi: 10.2215/CJN.12841211. Epub 2012 Mar 15.
Clin J Am Soc Nephrol. 2012.
PMID: 22422540
Free PMC article.
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