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Results: 1 to 20 of 89

1.

A Single SNP Surrogate for Genotyping HLA-C*06:02 in Diverse Populations.

Stuart PE, Tejasvi T, Shaiq PA, Kullavanijaya P, Qamar R, Raja GK, Li Y, Voorhees JJ, Abecasis GR, Elder JT, Nair RP.

J Invest Dermatol. 2014 Dec 10. doi: 10.1038/jid.2014.517. [Epub ahead of print] No abstract available.

PMID:
25493653
[PubMed - as supplied by publisher]
2.

Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.

Micheal S, Ayub H, Khan MI, Bakker B, Schoenmaker-Koller FE, Ali M, Akhtar F, Khan WA, Qamar R, den Hollander AI.

Mol Vis. 2014 Nov 4;20:1471-9. eCollection 2014.

PMID:
25489222
[PubMed - in process]
Free PMC Article
3.

Exome sequencing identifies three novel candidate genes implicated in intellectual disability.

Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.

PLoS One. 2014 Nov 18;9(11):e112687. doi: 10.1371/journal.pone.0112687. eCollection 2014.

PMID:
25405613
[PubMed - in process]
Free PMC Article
4.

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

Siddiqi S, Ismail M, Oostrik J, Munawar S, Mansoor A, Kremer H, Qamar R, Schraders M.

J Hum Genet. 2014 Dec;59(12):683-6. doi: 10.1038/jhg.2014.86. Epub 2014 Oct 9.

PMID:
25296581
[PubMed - in process]
5.

Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.

Ayub H, Micheal S, Akhtar F, Khan MI, Bashir S, Waheed NK, Ali M, Schoenmaker-Koller FE, Shafique S, Qamar R, Hollander AI.

PLoS One. 2014 Aug 13;9(8):e105023. doi: 10.1371/journal.pone.0105023. eCollection 2014.

PMID:
25118708
[PubMed - in process]
Free PMC Article
6.

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

Micheal S, Ayub H, Zafar SN, Bakker B, Ali M, Akhtar F, Islam F, Khan MI, Qamar R, den Hollander AI.

Clin Experiment Ophthalmol. 2015 Jan;43(1):31-9. doi: 10.1111/ceo.12369. Epub 2014 Sep 23.

PMID:
25091052
[PubMed - in process]
7.

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.

PLoS One. 2014 Jun 20;9(6):e100146. doi: 10.1371/journal.pone.0100146. eCollection 2014.

PMID:
24949729
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.

Invest Ophthalmol Vis Sci. 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129.

PMID:
24876279
[PubMed - indexed for MEDLINE]
9.

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.

J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15.

PMID:
24737827
[PubMed - indexed for MEDLINE]
10.

The molecular basis of retinal dystrophies in pakistan.

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

Genes (Basel). 2014 Mar 11;5(1):176-95. doi: 10.3390/genes5010176.

PMID:
24705292
[PubMed]
Free PMC Article
11.

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H.

Gene. 2014 Mar 15;538(1):30-5. doi: 10.1016/j.gene.2014.01.027. Epub 2014 Jan 16.

PMID:
24440292
[PubMed - indexed for MEDLINE]
12.

Feasibility of 4 cycles of docetaxel and cyclophosphamide every 14 days as an adjuvant regimen for breast cancer: a Wisconsin Oncology Network study.

Burkard ME, Wisinski KB, Njiaju UO, Donohue S, Hegeman R, Stella A, Mansky P, Shah V, Goggins T, Qamar R, Dietrich L, Kim K, Traynor AM, Tevaarwerk AJ.

Clin Breast Cancer. 2014 Jun;14(3):205-11. doi: 10.1016/j.clbc.2013.10.018. Epub 2013 Oct 26.

PMID:
24342730
[PubMed - indexed for MEDLINE]
13.

Phase III randomized, placebo-controlled, double-blind study of intravenous calcium and magnesium to prevent oxaliplatin-induced sensory neurotoxicity (N08CB/Alliance).

Loprinzi CL, Qin R, Dakhil SR, Fehrenbacher L, Flynn KA, Atherton P, Seisler D, Qamar R, Lewis GC, Grothey A.

J Clin Oncol. 2014 Apr 1;32(10):997-1005. doi: 10.1200/JCO.2013.52.0536. Epub 2013 Dec 2.

PMID:
24297951
[PubMed - indexed for MEDLINE]
14.

The outcomes of pars plana vitrectomy without endotamponade for tractional retinal detachment secondary to proliferative diabetic retinopathy.

Qamar RM, Saleem MI, Saleem MF.

Int J Ophthalmol. 2013 Oct 18;6(5):671-4. doi: 10.3980/j.issn.2222-3959.2013.05.23. eCollection 2013.

PMID:
24195047
[PubMed]
Free PMC Article
15.

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

Siddiqi S, Siddiq S, Mansoor A, Oostrik J, Ahmad N, Kazmi SA, Kremer H, Qamar R, Schraders M.

J Hum Genet. 2013 Dec;58(12):819-21. doi: 10.1038/jhg.2013.101. Epub 2013 Oct 31.

PMID:
24172246
[PubMed - indexed for MEDLINE]
16.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R.

Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24.

PMID:
24154662
[PubMed - indexed for MEDLINE]
17.

Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.

Cremers FP, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R.

Hum Mutat. 2014 Jan;35(1):147-8. No abstract available.

PMID:
24123322
[PubMed - indexed for MEDLINE]
Free PMC Article
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20.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK.

Hum Mutat. 2013 Nov;34(11):1537-46. doi: 10.1002/humu.22398. Epub 2013 Sep 17.

PMID:
23946133
[PubMed - indexed for MEDLINE]
Free PMC Article
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