Heon E - Search Results

1

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: heon e. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252

2

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM. Héon E, et al. Hum Mol Genet. 1995 Aug;4(8):1435-9. doi: 10.1093/hmg/4.8.1435. Hum Mol Genet. 1995. PMID: 7581385

3

Linkage of posterior polymorphous corneal dystrophy to 20q11.

Héon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Héon E, et al. Hum Mol Genet. 1995 Mar;4(3):485-8. doi: 10.1093/hmg/4.3.485. Hum Mol Genet. 1995. PMID: 7795607

4

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

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

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC. Alward WL, et al. Among authors: heon e. Am J Ophthalmol. 1998 Jan;125(1):98-100. doi: 10.1016/s0002-9394(99)80242-6. Am J Ophthalmol. 1998. PMID: 9437321

7

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

8

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.

Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: heon e. Hum Mol Genet. 1999 May;8(5):899-905. doi: 10.1093/hmg/8.5.899. Hum Mol Genet. 1999. PMID: 10196380

9

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF. Stone EM, et al. Among authors: heon e. Nat Genet. 1999 Jun;22(2):199-202. doi: 10.1038/9722. Nat Genet. 1999. PMID: 10369267

10

Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: heon e. Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538. Arch Ophthalmol. 2000. PMID: 10766140

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