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Items: 1 to 20 of 37

1.

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.

Abouzeid H, Othman IS, Schorderet DF.

Klin Monbl Augenheilkd. 2016 Apr;233(4):456-9. doi: 10.1055/s-0041-111815. Epub 2016 Apr 26.

PMID:
27116508
2.

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.

Suzuki T, Fujimaki T, Yanagawa A, Arai E, Fujiki K, Wada Y, Murakami A.

Jpn J Ophthalmol. 2014 Nov;58(6):528-35. doi: 10.1007/s10384-014-0339-z. Epub 2014 Aug 7.

PMID:
25096270
3.

The RPGRIP1-related retinal phenotype in children.

Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS.

Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16. Erratum in: Br J Ophthalmol. 2014 Mar;98(3):420.

PMID:
23505306
4.

Identification of a novel LCA6 mutation in an Emirati family.

Fakhratova M.

Ophthalmic Genet. 2013 Dec;34(4):234-7. doi: 10.3109/13816810.2012.755552. Epub 2013 Jan 2.

PMID:
23278760
5.

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM.

Ophthalmology. 2007 May;114(5):895-8. Epub 2007 Feb 16.

PMID:
17306875
7.

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM.

Eur J Hum Genet. 2001 Aug;9(8):561-71.

8.

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ.

Br J Ophthalmol. 2014 Dec;98(12):1724-8. doi: 10.1136/bjophthalmol-2014-305122. Epub 2014 Jul 4.

PMID:
24997176
9.

RPGRIP1 and cone-rod dystrophy in dogs.

Kuznetsova T, Zangerl B, Aguirre GD.

Adv Exp Med Biol. 2012;723:321-8. doi: 10.1007/978-1-4614-0631-0_42. Review. No abstract available.

10.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.

Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F.

Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12.

11.
13.

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S.

J Med Genet. 2003 Aug;40(8):616-9. No abstract available.

14.

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL.

Am J Hum Genet. 2001 May;68(5):1295-8. Epub 2001 Mar 29.

15.

Identification of a novel protein interacting with RPGR.

Boylan JP, Wright AF.

Hum Mol Genet. 2000 Sep 1;9(14):2085-93.

PMID:
10958647
16.

Leber congenital amaurosis caused by mutations in RPGRIP1.

Li T.

Cold Spring Harb Perspect Med. 2014 Nov 20;5(4). pii: a017384. doi: 10.1101/cshperspect.a017384. Review.

17.

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA.

Hum Mol Genet. 2000 Sep 1;9(14):2095-105.

PMID:
10958648
18.

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.

Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA.

J Med Genet. 2005 Nov;42(11):e67.

19.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R.

Hum Mol Genet. 2015 Mar 15;24(6):1584-601. doi: 10.1093/hmg/ddu573. Epub 2014 Nov 14.

20.

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH; POC1B Study Group, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP.

Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10.

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