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Results: 1 to 20 of 82

1.

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 - in process]
Free PMC Article
2.

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 - in process]
3.

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 - in process]
4.

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
5.

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]
6.

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 - in process]
7.

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]
8.

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
9.

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]
10.

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]
11.

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 - in process]
12.
13.

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]
14.

Cardioncology: state of the heart.

Todaro MC, Oreto L, Qamar R, Paterick TE, Carerj S, Khandheria BK.

Int J Cardiol. 2013 Sep 30;168(2):680-7. doi: 10.1016/j.ijcard.2013.03.133. Epub 2013 Apr 30. Review.

PMID:
23639459
[PubMed - indexed for MEDLINE]
15.

Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy.

Tariq K, Malik SB, Ali SH, Maqsood SE, Azam A, Muslim I, Khan MS, Azam M, Waheed NK, Qamar R.

Mol Vis. 2013;19:710-7. Epub 2013 Mar 21.

PMID:
23559865
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

Mol Vis. 2013;19:644-53. Epub 2013 Mar 21.

PMID:
23559858
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE.

Clin Chim Acta. 2013 Jun 5;421:219-25. doi: 10.1016/j.cca.2013.03.017. Epub 2013 Mar 25.

PMID:
23535506
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genetic associations of psoriasis in a Pakistani population.

Shaiq PA, Stuart PE, Latif A, Schmotzer C, Kazmi AH, Khan MS, Azam M, Tejasvi T, Voorhees JJ, Raja GK, Elder JT, Qamar R, Nair RP.

Br J Dermatol. 2013 Aug;169(2):406-11. doi: 10.1111/bjd.12313.

PMID:
23495851
[PubMed - indexed for MEDLINE]
19.

Sorafenib or placebo with either gemcitabine or capecitabine in patients with HER-2-negative advanced breast cancer that progressed during or after bevacizumab.

Schwartzberg LS, Tauer KW, Hermann RC, Makari-Judson G, Isaacs C, Beck JT, Kaklamani V, Stepanski EJ, Rugo HS, Wang W, Bell-McGuinn K, Kirshner JJ, Eisenberg P, Emanuelson R, Keaton M, Levine E, Medgyesy DC, Qamar R, Starr A, Ro SK, Lokker NA, Hudis CA.

Clin Cancer Res. 2013 May 15;19(10):2745-54. doi: 10.1158/1078-0432.CCR-12-3177. Epub 2013 Feb 26.

PMID:
23444220
[PubMed - indexed for MEDLINE]
Free Article
20.

Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population.

Micheal S, Yousaf S, Khan MI, Akhtar F, Islam F, Khan WA, den Hollander AI, Qamar R, Ahmed A.

Mol Vis. 2013;19:441-7. Epub 2013 Feb 20.

PMID:
23441116
[PubMed - indexed for MEDLINE]
Free PMC Article

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