Ajmal M - Search Results

1

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP. Ajmal M, et al. J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15. J Med Genet. 2014. PMID: 24737827

2

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, den Hollander AI, Haer-Wigman L, Collin RW, Khan MI, Qamar R, Cremers FP. Maria M, et al. Among authors: ajmal m. PLoS One. 2015 Mar 16;10(3):e0119806. doi: 10.1371/journal.pone.0119806. eCollection 2015. PLoS One. 2015. PMID: 25775262 Free PMC article.

3

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

Astuti GD, Bertelsen M, Preising MN, Ajmal M, Lorenz B, Faradz SM, Qamar R, Collin RW, Rosenberg T, Cremers FP. Astuti GD, et al. Among authors: ajmal m. Eur J Hum Genet. 2016 Jul;24(7):1071-9. doi: 10.1038/ejhg.2015.241. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626312 Free PMC article.

4

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. Ajmal M, et al. Mol Vis. 2012;18:1226-37. Epub 2012 May 10. Mol Vis. 2012. PMID: 22665969 Free PMC article.

5

Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.

Ajmal M, Khan MI, Neveling K, Khan YM, Ali SH, Ahmed W, Iqbal MS, Azam M, den Hollander AI, Collin RW, Qamar R, Cremers FP. Ajmal M, et al. Mol Vis. 2012;18:1558-71. Epub 2012 Jun 13. Mol Vis. 2012. PMID: 22736946 Free PMC article.

6

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S, Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E, Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, Roepman R, Azam M, Arts HH, Qamar R. Maria M, et al. Among authors: ajmal m. Sci Rep. 2016 Oct 6;6:34764. doi: 10.1038/srep34764. Sci Rep. 2016. PMID: 27708425 Free PMC article.

7

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. Among authors: ajmal m. Mol Vis. 2009 Sep 5;15:1788-93. Mol Vis. 2009. PMID: 19753316 Free PMC article.

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. 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

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, Ayub H, Abbasi NM, Riaz M, Micheal S, Gilissen C, Ali SH, Azam M, Collin RW, Cremers FP, Qamar R. Ajmal M, et al. Mol Vis. 2013;19:644-53. Epub 2013 Mar 21. Mol Vis. 2013. PMID: 23559858 Free PMC article.

10

The molecular basis of retinal dystrophies in pakistan.

Khan MI, Azam M, Ajmal M, Collin RW, den Hollander AI, Cremers FP, Qamar R. Khan MI, et al. Among authors: ajmal m. Genes (Basel). 2014 Mar 11;5(1):176-95. doi: 10.3390/genes5010176. Genes (Basel). 2014. PMID: 24705292 Free PMC article.

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