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Results: 1 to 20 of 114

1.

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.

Li D, Jin C, Jiao X, Li L, Bushra T, Naeem MA, Butt NH, Husnain T, Sieving PA, Riazuddin S, Riazuddin SA, Hejtmancik JF.

Mol Vis. 2014 Jan 6;20:1-14. eCollection 2014.

PMID:
24426771
[PubMed - in process]
Free PMC Article
2.

Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF.

Mol Vis. 2006 Oct 26;12:1283-91.

PMID:
17110911
[PubMed - indexed for MEDLINE]
Free Article
3.

Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p.

Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2007 Sep 10;13:1635-40.

PMID:
17893665
[PubMed - indexed for MEDLINE]
Free Article
4.

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):2100-6.

PMID:
15914629
[PubMed - indexed for MEDLINE]
Free 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.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Apr 15;16:682-8.

PMID:
20405025
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.

Mol Genet Metab. 2000 Jun;70(2):142-50.

PMID:
10873396
[PubMed - indexed for MEDLINE]
9.

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.

Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S.

Mol Vis. 2011;17:1373-80. Epub 2011 May 25.

PMID:
21655355
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family.

Kaul H, Riazuddin SA, Yasmeen A, Mohsin S, Khan M, Nasir IA, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Feb 16;16:240-5.

PMID:
20161816
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

Kabir F, Naz S, Riazuddin SA, Naeem MA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S.

Mol Vis. 2013 Jul 19;19:1554-64. Print 2013.

PMID:
23878505
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):623-6.

PMID:
15671291
[PubMed - indexed for MEDLINE]
Free Article
13.

Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.

Jiao X, Ritter R 3rd, Hejtmancik JF, Edwards AO.

Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4498-503.

PMID:
15557460
[PubMed - indexed for MEDLINE]
Free Article
14.

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.

Mol Vis. 2010 Mar 24;16:511-7.

PMID:
20361013
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.

Singh HP, Jalali S, Hejtmancik JF, Kannabiran C.

Am J Ophthalmol. 2006 May;141(5):906-13. Epub 2006 Mar 20.

PMID:
16546111
[PubMed - indexed for MEDLINE]
16.

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
17.

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.

Khaliq S, Hameed A, Ismail M, Anwar K, Leroy BP, Mehdi SQ, Payne AM, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3709-12.

PMID:
11053266
[PubMed - indexed for MEDLINE]
Free Article
18.

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21.

PMID:
15277496
[PubMed - indexed for MEDLINE]
Free Article
19.

Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

Firasat S, Riazuddin SA, Hejtmancik JF, Riazuddin S.

Mol Vis. 2008 Sep 5;14:1659-65.

PMID:
18776954
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.

PMID:
11581183
[PubMed - indexed for MEDLINE]
Free Article

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