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Results: 1 to 20 of 93

1.

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

Lam BL, Züchner SL, Dallman J, Wen R, Alfonso EC, Vance JM, Peričak-Vance MA.

Adv Exp Med Biol. 2014;801:165-70. doi: 10.1007/978-1-4614-3209-8_21.

PMID:
24664694
[PubMed - indexed for MEDLINE]
2.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D.

Am J Hum Genet. 2011 Feb 11;88(2):207-15. doi: 10.1016/j.ajhg.2011.01.002. Epub 2011 Feb 3.

PMID:
21295282
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA.

Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3.

PMID:
21295283
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.

Wen R, Lam BL, Guan Z.

J Lipid Res. 2013 Dec;54(12):3516-22. doi: 10.1194/jlr.M043232. Epub 2013 Sep 27.

PMID:
24078709
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish.

Wen R, Dallman JE, Li Y, Züchner SL, Vance JM, Peričak-Vance MA, Lam BL.

Adv Exp Med Biol. 2014;801:543-50. doi: 10.1007/978-1-4614-3209-8_69.

PMID:
24664742
[PubMed - indexed for MEDLINE]
6.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.

PMID:
9331262
[PubMed - indexed for MEDLINE]
Free Article
7.

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.

Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27.

PMID:
23900199
[PubMed - indexed for MEDLINE]
8.

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD.

Genomics. 2006 Nov;88(5):551-63. Epub 2006 Aug 30.

PMID:
16938425
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Concentric retinitis pigmentosa: clinicopathologic correlations.

Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG.

Exp Eye Res. 2001 Oct;73(4):493-508.

PMID:
11825021
[PubMed - indexed for MEDLINE]
10.

Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.

Pach J, Kohl S, Gekeler F, Zobor D.

Mol Vis. 2013 Jun 13;19:1350-5. Print 2013.

PMID:
23805042
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI.

Am J Hum Genet. 2013 Jul 11;93(1):110-7. doi: 10.1016/j.ajhg.2013.05.005. Epub 2013 Jun 6.

PMID:
23746546
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T.

Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1.

PMID:
23233793
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa.

Milam AH, Li ZY, Cideciyan AV, Jacobson SG.

Invest Ophthalmol Vis Sci. 1996 Apr;37(5):753-65.

PMID:
8603860
[PubMed - indexed for MEDLINE]
Free Article
14.

Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa.

John SK, Smith JE, Aguirre GD, Milam AH.

Mol Vis. 2000 Nov 3;6:204-15.

PMID:
11063754
[PubMed - indexed for MEDLINE]
Free Article
15.

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.

Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1992 Jun;1(3):209-13.

PMID:
1303237
[PubMed - indexed for MEDLINE]
16.

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.

Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17.

PMID:
23281133
[PubMed - indexed for MEDLINE]
17.

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S.

Arch Ophthalmol. 2010 Jun;128(6):772-8. doi: 10.1001/archophthalmol.2010.98.

PMID:
20547956
[PubMed - indexed for MEDLINE]
18.

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH.

Exp Eye Res. 2002 Oct;75(4):431-43.

PMID:
12387791
[PubMed - indexed for MEDLINE]
19.

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.

Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T.

Mol Vis. 2013 Jul 20;19:1565-71. Print 2013.

PMID:
23882135
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI.

Am J Hum Genet. 2010 Aug 13;87(2):199-208. doi: 10.1016/j.ajhg.2010.07.004. Epub 2010 Jul 30.

PMID:
20673862
[PubMed - indexed for MEDLINE]
Free PMC Article
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