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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. Deveault C, et al. Among authors: munier fl. Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21344540
Gene localization for aculeiform cataract, on chromosome 2q33-35.
Héon E, Liu S, Billingsley G, Bernasconi O, Tsilfidis C, Schorderet DF, Munier FL. Héon E, et al. Among authors: munier fl. Am J Hum Genet. 1998 Sep;63(3):921-6. doi: 10.1086/302005. Am J Hum Genet. 1998. PMID: 9718335 Free PMC article. No abstract available.
The gamma-crystallins and human cataracts: a puzzle made clearer.
Héon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL. Héon E, et al. Among authors: munier fl. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619. Am J Hum Genet. 1999. PMID: 10521291 Free PMC article.
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
Héon E, Paterson AD, Fraser M, Billingsley G, Priston M, Balmer A, Schorderet DF, Verner A, Hudson TJ, Munier FL. Héon E, et al. Among authors: munier fl. Am J Hum Genet. 2001 Mar;68(3):772-7. doi: 10.1086/318798. Epub 2001 Feb 5. Am J Hum Genet. 2001. PMID: 11179024 Free PMC article.
A molecular perspective on corneal dystrophies.
Vincent AL, Rootman D, Munier FL, Héon E. Vincent AL, et al. Among authors: munier fl. Dev Ophthalmol. 2003;37:50-66. doi: 10.1159/000072038. Dev Ophthalmol. 2003. PMID: 12876829 Review.
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. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.
310 results