Heon E - 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: heon e. 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

Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy.

Sigesmund DA, Weleber RG, Pillers DA, Westall CA, Panton CM, Powell BR, Héon E, Murphey WH, Musarella MA, Ray PN. Sigesmund DA, et al. Among authors: heon e. Ophthalmology. 1994 May;101(5):856-65. doi: 10.1016/s0161-6420(13)31249-4. Ophthalmology. 1994. PMID: 8190471

3

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

4

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. Among authors: heon e. Klin Monbl Augenheilkd. 1996 May;208(5):400-3. doi: 10.1055/s-2008-1035252. Klin Monbl Augenheilkd. 1996. PMID: 8766064

5

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: heon e. Ophthalmic Genet. 1996 Dec;17(4):175-86. doi: 10.3109/13816819609057891. Ophthalmic Genet. 1996. PMID: 9010868

6

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: heon e. Ophthalmic Genet. 1998 Sep;19(3):131-9. doi: 10.1076/opge.19.3.131.2183. Ophthalmic Genet. 1998. PMID: 9810568

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: heon e. 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: heon e. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):159-65. Invest Ophthalmol Vis Sci. 2000. PMID: 10634616

9

Mutations in the CRB1 gene cause Leber congenital amaurosis.

Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, Héon E, Levin AV, Grover S, Rosenow JR, Kopp KK, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: heon e. Arch Ophthalmol. 2001 Mar;119(3):415-20. doi: 10.1001/archopht.119.3.415. Arch Ophthalmol. 2001. PMID: 11231775

10

An analysis of allelic variation in the ABCA4 gene.

Webster AR, Héon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM. Webster AR, et al. Among authors: heon e. Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89. Invest Ophthalmol Vis Sci. 2001. PMID: 11328725

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