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Items: 1 to 20 of 212

1.

Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.

Tzu JH, Arguello T, Berrocal AM, Berrocal M, Weisman AD, Liu M, Hess D, Caputo M, Goldberg JL, Feuer WJ, Stone EM, Lam BL.

Ophthalmic Genet. 2015;36(4):321-6. doi: 10.3109/13816810.2014.886267. Epub 2014 Feb 20.

PMID:
24555744
2.

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304.

PMID:
17325176
3.

Visual Function in Carriers of X-Linked Retinitis Pigmentosa.

Comander J, Weigel-DiFranco C, Sandberg MA, Berson EL.

Ophthalmology. 2015 Sep;122(9):1899-906. doi: 10.1016/j.ophtha.2015.05.039. Epub 2015 Jul 2.

4.

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.

Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16.

5.

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.

Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.

Arch Ophthalmol. 2008 Mar;126(3):379-84. doi: 10.1001/archophthalmol.2007.72.

PMID:
18332319
6.

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.

Sheng X, Li Z, Zhang X, Wang J, Ren H, Sun Y, Meng R, Rong W, Zhuang W.

Mol Vis. 2010 Aug 15;16:1620-8.

7.

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T.

JAMA Ophthalmol. 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120.

8.

Phenotype in two families with RP3 associated with RPGR mutations.

Lorenz B, Andrassi M, Kretschmann U.

Ophthalmic Genet. 2003 Jun;24(2):89-101.

PMID:
12789573
9.

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC.

Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25.

10.

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.

Wu DM, Khanna H, Atmaca-Sonmez P, Sieving PA, Branham K, Othman M, Swaroop A, Daiger SP, Heckenlively JR.

Eye (Lond). 2010 May;24(5):764-74. doi: 10.1038/eye.2009.270. Epub 2009 Nov 6.

11.

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.

Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.

Ophthalmic Genet. 2003 Dec;24(4):215-23.

PMID:
14566651
12.

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.

Ophthalmology. 1998 Dec;105(12):2286-96.

PMID:
9855162
13.

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA.

Am J Ophthalmol. 2003 Oct;136(4):678-87.

PMID:
14516808
14.

A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.

Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A.

Arch Ophthalmol. 1998 Feb;116(2):213-8.

PMID:
9488274
15.

Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.

Al-Maskari A, O'grady A, Pal B, McKibbin M.

Eye (Lond). 2009 Mar;23(3):519-21. doi: 10.1038/eye.2008.427. Epub 2009 Feb 13.

PMID:
19218993
16.
17.

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5594-608. doi: 10.1167/iovs.12-10070.

18.

Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa.

Bregnhøj J, Al-Hamdani S, Sander B, Larsen M, Schatz P.

Mol Vis. 2014 Jun 19;20:852-63. eCollection 2014.

19.

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.

Jin ZB, Gu F, Ma X, Nao-i N.

Arch Ophthalmol. 2007 Oct;125(10):1407-12.

PMID:
17923551
20.

[Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].

Li ZL, Zhuang WJ, Zhao W, Zhang XF, Wang J, Meng RH, Rong WN, Sheng XL.

Zhonghua Yan Ke Za Zhi. 2011 Jun;47(6):516-20. Chinese.

PMID:
21914266

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