Munier FL - Search Results

1

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: munier fl. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. Invest Ophthalmol Vis Sci. 2021. PMID: 34940782 Free PMC article.

2

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.

Héon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM. Héon E, et al. Arch Ophthalmol. 1996 Feb;114(2):193-8. doi: 10.1001/archopht.1996.01100130187014. Arch Ophthalmol. 1996. PMID: 8573024

3

Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling.

Munier FL, Thonney F, Balmer A, Héon E, Pescia G, Schorderet DF. Munier FL, et al. Klin Monbl Augenheilkd. 1996 May;208(5):400-3. doi: 10.1055/s-2008-1035252. Klin Monbl Augenheilkd. 1996. PMID: 8766064

4

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM. Piguet B, et al. Among authors: munier fl. Ophthalmic Genet. 1996 Dec;17(4):175-86. doi: 10.3109/13816819609057891. Ophthalmic Genet. 1996. PMID: 9010868

5

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL. Millá E, et al. Among authors: munier fl. Ophthalmic Genet. 1998 Sep;19(3):131-9. doi: 10.1076/opge.19.3.131.2183. Ophthalmic Genet. 1998. PMID: 9810568

6

On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.

Korvatska E, Munier FL, Chaubert P, Wang MX, Mashima Y, Yamada M, Uffer S, Zografos L, Schorderet DF. Korvatska E, et al. Among authors: munier fl. Invest Ophthalmol Vis Sci. 1999 Sep;40(10):2213-9. Invest Ophthalmol Vis Sci. 1999. PMID: 10476785

7

Rhegmatogenous retinal detachment after treatment of retinoblastoma.

Bovey EH, Fernandez-Ragaz A, Héon E, Balmer A, Munier FL. Bovey EH, et al. Among authors: munier fl. Ophthalmic Genet. 1999 Sep;20(3):141-51. doi: 10.1076/opge.20.3.141.2283. Ophthalmic Genet. 1999. PMID: 10520235

8

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Héon E. Gill D, et al. Among authors: munier fl. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):159-65. Invest Ophthalmol Vis Sci. 2000. PMID: 10634616

9

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: munier fl. Invest Ophthalmol Vis Sci. 2000 May;41(6):1291-6. Invest Ophthalmol Vis Sci. 2000. PMID: 10798642

10

BIGH3 mutation spectrum in corneal dystrophies.

Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Héon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF. Munier FL, et al. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54. Invest Ophthalmol Vis Sci. 2002. PMID: 11923233

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