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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: hamel c. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: hamel c. Am J Hum Genet. 2004 Oct;75(4):639-46. doi: 10.1086/424889. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322982 Free PMC article.
[Hereditary macular dystrophies].
Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J. Rozet JM, et al. Among authors: hamel c. J Fr Ophtalmol. 2005 Jan;28(1):113-24. doi: 10.1016/s0181-5512(05)81033-2. J Fr Ophtalmol. 2005. PMID: 15767907 Review. French.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM. Perrault I, et al. Among authors: hamel c. Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842229
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Pelletier V, et al. Among authors: hamel c. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763
[Hereditary optic neuropathies: from clinical signs to diagnosis].
Meunier I, Lenaers G, Hamel C, Defoort-Dhellemmes S. Meunier I, et al. Among authors: hamel c. J Fr Ophtalmol. 2013 Dec;36(10):886-900. doi: 10.1016/j.jfo.2013.05.007. Epub 2013 Oct 23. J Fr Ophtalmol. 2013. PMID: 24161764 Review. French.
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J. Ducroq D, et al. Among authors: hamel c. Am J Hum Genet. 2002 Dec;71(6):1480-2. doi: 10.1086/344829. Am J Hum Genet. 2002. PMID: 12515255 Free PMC article. No abstract available.
518 results