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Items: 1 to 20 of 33


Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5107-14. doi: 10.1167/iovs.08-3208. Epub 2009 Jun 10.


A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10.


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.


Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.


Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N.

Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Erratum in: Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected to Alfadhel, Majid].


A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D.

Am J Med Genet A. 2007 Jun 1;143A(11):1150-8.


Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.


Genetic markers for retinitis pigmentosa.

Wang DY, Chan WM, Tam PO, Chiang SW, Lam DS, Chong KK, Pang CP.

Hong Kong Med J. 2005 Aug;11(4):281-8. Review.


RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

Khanna H, Hurd TW, Lillo C, Shu X, Parapuram SK, He S, Akimoto M, Wright AF, Margolis B, Williams DS, Swaroop A.

J Biol Chem. 2005 Sep 30;280(39):33580-7. Epub 2005 Jul 25.


Inheritance of most X-linked traits is not dominant or recessive, just X-linked.

Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C.

Am J Med Genet A. 2004 Aug 30;129A(2):136-43.


Dominant, gain-of-function mutant produced by truncation of RPGR.

Hong DH, Pawlyk BS, Adamian M, Li T.

Invest Ophthalmol Vis Sci. 2004 Jan;45(1):36-41.


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.


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.


Gene action in the X-chromosome of the mouse (Mus musculus L.).


Nature. 1961 Apr 22;190:372-3. No abstract available.


A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.


Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.

Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD.

Hum Mol Genet. 2002 May 1;11(9):993-1003.


Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF.

Hum Mutat. 2002 May;19(5):486-500. Review.


Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

Rozet JM, Perrault I, Gigarel N, Souied E, Ghazi I, Gerber S, Dufier JL, Munnich A, Kaplan J.

J Med Genet. 2002 Apr;39(4):284-5. No abstract available.


Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A.

Am J Hum Genet. 2000 Oct;67(4):1000-3. Epub 2000 Sep 1.

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