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Results: 1 to 20 of 1541

1.

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.

Arch Ophthalmol. 2007 Jul;125(7):932-5.

PMID:
17620573
[PubMed - indexed for MEDLINE]
2.

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S.

Arch Ophthalmol. 2011 Oct;129(10):1351-7. doi: 10.1001/archophthalmol.2011.267.

PMID:
21987678
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

PMID:
15570217
[PubMed - indexed for MEDLINE]
Free Article
4.

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Abbasi AH, Garzozi HJ, Ben-Yosef T.

Mol Vis. 2008 Apr 21;14:675-82.

PMID:
18432314
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70.

PMID:
15980210
[PubMed - indexed for MEDLINE]
Free Article
6.

Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.

Xi Q, Li L, Traboulsi EI, Wang QK.

Mol Vis. 2009;15:638-45. Epub 2009 Apr 3.

PMID:
19352439
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.

Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7.

PMID:
17962469
[PubMed - indexed for MEDLINE]
Free Article
8.

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP.

Nat Genet. 1998 Feb;18(2):174-6.

PMID:
9462750
[PubMed - indexed for MEDLINE]
9.

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.

Ophthalmology. 2010 Oct;117(10):2026-33, 2033.e1-7. doi: 10.1016/j.ophtha.2010.01.040.

PMID:
20537394
[PubMed - indexed for MEDLINE]
10.

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.

Ophthalmology. 2010 Nov;117(11):2169-77.e3. doi: 10.1016/j.ophtha.2010.02.029. Epub 2010 Jun 29.

PMID:
20591486
[PubMed - indexed for MEDLINE]
11.

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.

Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.

Mol Vis. 2012;18:1226-37. Epub 2012 May 10.

PMID:
22665969
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72. doi: 10.1167/iovs.09-5109. Epub 2010 Mar 17.

PMID:
20237254
[PubMed - indexed for MEDLINE]
Free Article
13.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
[PubMed - indexed for MEDLINE]
14.

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

Paloma E, Hjelmqvist L, Bayés M, García-Sandoval B, Ayuso C, Balcells S, Gonzàlez-Duarte R.

Invest Ophthalmol Vis Sci. 2000 Mar;41(3):656-9.

PMID:
10711677
[PubMed - indexed for MEDLINE]
Free Article
15.

A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.

Grover S, Fishman GA, Stone EM.

Ophthalmology. 2004 Oct;111(10):1910-6.

PMID:
15465556
[PubMed - indexed for MEDLINE]
16.

Arrestin gene mutations in autosomal recessive retinitis pigmentosa.

Nakazawa M, Wada Y, Tamai M.

Arch Ophthalmol. 1998 Apr;116(4):498-501.

PMID:
9565049
[PubMed - indexed for MEDLINE]
17.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7.

PMID:
20375346
[PubMed - indexed for MEDLINE]
Free Article
18.

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Li N, Mei H, MacDonald IM, Jiao X, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1036-43. doi: 10.1167/iovs.09-3725. Epub 2009 Aug 26.

PMID:
19710410
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9304-9. doi: 10.1167/iovs.11-8372.

PMID:
22039234
[PubMed - indexed for MEDLINE]
Free Article
20.

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC.

Mol Vis. 2006 Dec 4;12:1483-9.

PMID:
17167404
[PubMed - indexed for MEDLINE]
Free Article

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