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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration. Roux AF, et al. Among authors: vielle a. J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5. J Med Genet. 2006. PMID: 16679490 Free PMC article.
Molecular epidemiology of DFNB1 deafness in France.
Roux AF, Pallares-Ruiz N, Vielle A, Faugère V, Templin C, Leprevost D, Artières F, Lina G, Molinari N, Blanchet P, Mondain M, Claustres M. Roux AF, et al. Among authors: vielle a. BMC Med Genet. 2004 Mar 6;5:5. doi: 10.1186/1471-2350-5-5. BMC Med Genet. 2004. PMID: 15070423 Free PMC article.
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G. Lombardi F, et al. Among authors: vielle a. J Clin Endocrinol Metab. 2007 Nov;92(11):4467-71. doi: 10.1210/jc.2007-0116. Epub 2007 Sep 11. J Clin Endocrinol Metab. 2007. PMID: 17848409
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[No authors listed] [No authors listed] PMID: 33954434
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[No authors listed] [No authors listed] PMID: 33954474
23 results