Heon E - Search Results

1

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B. Knöpfel EB, et al. Among authors: heon e. Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019. Front Physiol. 2019. PMID: 31231240 Free PMC article.

2

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

3

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

4

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

5

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

6

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. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619. Am J Hum Genet. 1999. PMID: 10521291 Free PMC article.

7

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

8

A molecular perspective on corneal dystrophies.

Vincent AL, Rootman D, Munier FL, Héon E. Vincent AL, et al. Among authors: heon e. Dev Ophthalmol. 2003;37:50-66. doi: 10.1159/000072038. Dev Ophthalmol. 2003. PMID: 12876829 Review.

9

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.

Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL. Ferrini W, et al. Among authors: heon e. Invest Ophthalmol Vis Sci. 2004 May;45(5):1436-41. doi: 10.1167/iovs.03-0760. Invest Ophthalmol Vis Sci. 2004. PMID: 15111599

10

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. Vincent A, et al. Among authors: heon e. Retina. 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574. Retina. 2012. PMID: 22277927

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