Azam M - Search Results

1

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. Azam M, et al. Mol Vis. 2010 Apr 29;16:774-81. Mol Vis. 2010. PMID: 20454696 Free PMC article.

2

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. Azam M, et al. Mol Vis. 2009 Sep 5;15:1788-93. Mol Vis. 2009. PMID: 19753316 Free PMC article.

3

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. Azam M, et al. Mol Vis. 2009 Dec 3;15:2526-34. Mol Vis. 2009. PMID: 19960070 Free PMC article.

4

Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in myocardial infarction.

Ahmed W, Malik M, Saeed I, Khan AA, Sadeque A, Kaleem U, Ahmed N, Ajmal M, Azam M, Qamar R. Ahmed W, et al. Among authors: azam m. Mol Biol Rep. 2011 Apr;38(4):2541-8. doi: 10.1007/s11033-010-0392-8. Epub 2010 Nov 17. Mol Biol Rep. 2011. PMID: 21082259

5

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. Khan MI, et al. Among authors: azam m. Mol Vis. 2010 Dec 15;16:2753-9. Mol Vis. 2010. PMID: 21179430 Free PMC article.

6

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP. Collin RW, et al. Among authors: azam m. Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185. Invest Ophthalmol Vis Sci. 2011. PMID: 21217109

7

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI. Khan MI, et al. Among authors: azam m. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010.10.047. Epub 2011 Feb 18. Ophthalmology. 2011. PMID: 21310491

8

A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia.

Ajmal M, Ahmed W, Akhtar N, Sadeque A, Khalid A, Benish Ali SH, Ahmed N, Azam M, Qamar R. Ajmal M, et al. Among authors: azam m. Genet Test Mol Biomarkers. 2011 Sep;15(9):601-6. doi: 10.1089/gtmb.2010.0184. Epub 2011 Apr 3. Genet Test Mol Biomarkers. 2011. PMID: 21457052

9

Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.

Shaiq PA, Klausegger A, Bauer JW, Azam M, Raja GK, Qamar R. Shaiq PA, et al. Among authors: azam m. J Dermatol. 2012 May;39(5):472-4. doi: 10.1111/j.1346-8138.2011.01363.x. Epub 2011 Oct 4. J Dermatol. 2012. PMID: 21967228 No abstract available.

10

Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.

Azam M, Collin RW, Malik A, Khan MI, Shah ST, Shah AA, Hussain A, Sadeque A, Arimadyo K, Ajmal M, Azam A, Qureshi N, Bokhari H, Strom TM, Cremers FP, Qamar R, den Hollander AI. Azam M, et al. Among authors: azam a. Arch Ophthalmol. 2011 Oct;129(10):1377-8. doi: 10.1001/archophthalmol.2011.290. Arch Ophthalmol. 2011. PMID: 21987686 No abstract available.

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