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Items: 1 to 20 of 218

1.

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.

2.

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.

Mol Vis. 2015 Aug 18;21:871-82. eCollection 2015.

3.

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.

4.

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
5.

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.

6.

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2009 Dec 3;15:2526-34.

7.

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.

8.

Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

Dryja TP, Rucinski DE, Chen SH, Berson EL.

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1859-65.

PMID:
10393062
9.

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.

10.

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP.

Nat Genet. 1995 Dec;11(4):468-71.

PMID:
7493036
11.

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.

12.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.

BMC Med Genet. 2010 Aug 10;11:121. doi: 10.1186/1471-2350-11-121.

13.

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.

Khan MI, Collin RW, Arimadyo K, Micheal S, Azam M, Qureshi N, Faradz SM, den Hollander AI, Qamar R, Cremers FP.

Mol Vis. 2010 Dec 15;16:2753-9.

14.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.

Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18.

15.

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.

16.

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T.

Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22.

17.

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.

Kannabiran C, Singh H, Sahini N, Jalali S, Mohan G.

Mol Vis. 2012;18:1165-74. Epub 2012 May 4.

18.

Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.

Paterson RL, De Roach JN, McLaren TL, Hewitt AW, Hoffmann L, Lamey TM.

Mol Vis. 2012;18:2043-52. Epub 2012 Jul 25.

19.

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW.

Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10177-81.

20.

A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.

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

Invest Ophthalmol Vis Sci. 2001 Jun;42(7):1436-8.

PMID:
11381043

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