Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 438

1.

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.

2.

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.

3.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF.

Mol Vis. 2013 Apr 5;19:829-34. Print 2013.

4.

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.

5.

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.

6.

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K.

Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4433-9.

PMID:
15557452
7.

A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, El-Ashry MF, Chan WM, Chong KL, Barragan I, Antiñolo G, Pang CP, Bhattacharya SS.

Ann Hum Genet. 2007 May;71(Pt 3):281-94. Epub 2006 Nov 29.

8.

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.

9.

A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.

Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A.

Ophthalmic Genet. 2011 Mar;32(1):57-63. doi: 10.3109/13816810.2010.535892. Epub 2010 Dec 21.

PMID:
21174529
10.

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Azam M, Collin RW, Khan MI, Shah ST, Qureshi N, Ajmal M, den Hollander AI, Qamar R, Cremers FP.

Mol Vis. 2009 Sep 5;15:1788-93.

11.

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.

13.

Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.

Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.

Genomics. 1998 Mar 15;48(3):341-5.

PMID:
9545639
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.

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
16.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2010 Apr 29;16:774-81.

17.

Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

Ando Y, Ohmori M, Ohtake H, Ohtoko K, Toyama S, Usami R, O'hira A, Hata H, Yanashima K, Kato S.

Mol Vis. 2007 Jun 29;13:1038-44.

18.
19.

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu J, Jiang F, Wang Q, Liu M.

Mol Vis. 2010 Mar 17;16:454-61.

20.

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.

Supplemental Content

Support Center