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A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, Rooryck C, Prouheze C, Vigouroux A, Chauveau D, Calvas P, Chassaing N. Faguer S, et al. Among authors: prouheze c. Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27. Eur J Med Genet. 2011. PMID: 21276880
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S, Chauveau D. Faguer S, et al. Among authors: prouheze c. Kidney Int. 2014 Nov;86(5):1007-15. doi: 10.1038/ki.2014.202. Epub 2014 Jun 4. Kidney Int. 2014. PMID: 24897035 Free article. Review.
Cytomegalovirus seminal shedding in healthy volunteer sperm donors.
Mengelle C, Segondy M, Boumzebra A, Prouhèze C, Chalet M, Puel J, Mansat A. Mengelle C, et al. Among authors: prouheze c. Clin Microbiol Infect. 1997 Aug;3(4):501-503. doi: 10.1111/j.1469-0691.1997.tb00293.x. Clin Microbiol Infect. 1997. PMID: 11864167 Free article. No abstract available.