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Items: 1 to 20 of 103

1.

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, Duvesh R, Chen LJ, Li Z, Nongpiur ME, Perera SA, Qiao C, Wong HT, Sakai H, Barbosa de Melo M, Lee MC, Chan AS, Azhany Y, Dao TL, Ikeda Y, Perez-Grossmann RA, Zarnowski T, Day AC, Jonas JB, Tam PO, Tran TA, Ayub H, Akhtar F, Micheal S, Chew PT, Aljasim LA, Dada T, Luu TT, Awadalla MS, Kitnarong N, Wanichwecharungruang B, Aung YY, Mohamed-Noor J, Vijayan S, Sarangapani S, Husain R, Jap A, Baskaran M, Goh D, Su DH, Wang H, Yong VK, Yip LW, Trinh TB, Makornwattana M, Nguyen TT, Leuenberger EU, Park KH, Wiyogo WA, Kumar RS, Tello C, Kurimoto Y, Thapa SS, Pathanapitoon K, Salmon JF, Sohn YH, Fea A, Ozaki M, Lai JS, Tantisevi V, Khaing CC, Mizoguchi T, Nakano S, Kim CY, Tang G, Fan S, Wu R, Meng H, Nguyen TT, Tran TD, Ueno M, Martinez JM, Ramli N, Aung YM, Reyes RD, Vernon SA, Fang SK, Xie Z, Chen XY, Foo JN, Sim KS, Wong TT, Quek DT, Venkatesh R, Kavitha S, Krishnadas SR, Soumittra N, Shantha B, Lim BA, Ogle J, de Vasconcellos JP, Costa VP, Abe RY, de Souza BB, Sng CC, Aquino MC, Kosior-Jarecka E, Fong GB, Tamanaja VC, Fujita R, Jiang Y, Waseem N, Low S, Pham HN, Al-Shahwan S, Craven ER, Khan MI, Dada R, Mohanty K, Faiq MA, Hewitt AW, Burdon KP, Gan EH, Prutthipongsit A, Patthanathamrongkasem T, Catacutan MA, Felarca IR, Liao CS, Rusmayani E, Istiantoro VW, Consolandi G, Pignata G, Lavia C, Rojanapongpun P, Mangkornkanokpong L, Chansangpetch S, Chan JC, Choy BN, Shum JW, Than HM, Oo KT, Han AT, Yong VH, Ng XY, Goh SR, Chong YF, Hibberd ML, Seielstad M, Png E, Dunstan SJ, Chau NV, Bei J, Zeng YX, Karkey A, Basnyat B, Pasutto F, Paoli D, Frezzotti P, Wang JJ, Mitchell P, Fingert JH, Allingham RR, Hauser MA, Lim ST, Chew SH, Ebstein RP, Sakuntabhai A, Park KH, Ahn J, Boland G, Snippe H, Stead R, Quino R, Zaw SN, Lukasik U, Shetty R, Zahari M, Bae HW, Oo NL, Kubota T, Manassakorn A, Ho WL, Dallorto L, Hwang YH, Kiire CA, Kuroda M, Djamal ZE, Peregrino JI, Ghosh A, Jeoung JW, Hoan TS, Srisamran N, Sandragasu T, Set SH, Doan VH, Bhattacharya SS, Ho CL, Tan DT, Sihota R, Loon SC, Mori K, Kinoshita S, Hollander AI, Qamar R, Wang YX, Teo YY, Tai ES, Hartleben-Matkin C, Lozano-Giral D, Saw SM, Cheng CY, Zenteno JC, Pang CP, Bui HT, Hee O, Craig JE, Edward DP, Yonahara M, Neto JM, Guevara-Fujita ML, Xu L, Ritch R, Liza-Sharmini AT, Wong TY, Al-Obeidan S, Do NH, Sundaresan P, Tham CC, Foster PJ, Vijaya L, Tashiro K, Vithana EN, Wang N, Aung T.

Nat Genet. 2016 May;48(5):556-62. doi: 10.1038/ng.3540. Epub 2016 Apr 4.

PMID:
27064256
2.

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.

Micheal S, Khan MI, Islam F, Akhtar F, Qamar R, Tassignon MJ, Loeys B, den Hollander AI.

Cornea. 2016 Mar 30. [Epub ahead of print]

PMID:
27032025
3.

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.

Van Schil K, Karlstetter M, Aslanidis A, Dannhausen K, Azam M, Qamar R, Leroy BP, Depasse F, Langmann T, De Baere E.

Sci Rep. 2016 Feb 18;6:21307. doi: 10.1038/srep21307.

4.

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.

Micheal S, Ayub H, Islam F, Siddiqui SN, Khan WA, Akhtar F, Qamar R, Khan MI, den Hollander AI.

PLoS One. 2015 Dec 29;10(12):e0145005. doi: 10.1371/journal.pone.0145005. eCollection 2015.

5.

Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy.

Saleem S, Azam A, Maqsood SI, Muslim I, Bashir S, Fazal N, Riaz M, Ali SH, Niazi MK, Ishaq M, Waheed NK, Qamar R, Azam M.

PLoS One. 2015 Dec 14;10(12):e0144557. doi: 10.1371/journal.pone.0144557. eCollection 2015.

6.

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.

Eur J Hum Genet. 2015 Dec 2. doi: 10.1038/ejhg.2015.241. [Epub ahead of print]

PMID:
26626312
7.

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Micheal S, Siddiqui SN, Zafar SN, Venselaar H, Qamar R, Khan MI, den Hollander AI.

Neurogenetics. 2016 Jan;17(1):17-23. doi: 10.1007/s10048-015-0462-0. Epub 2015 Oct 21.

8.

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

Agha Z, Iqbal Z, Kleefstra T, Zweier C, Pfundt R, Qamar R, VAN Bokhoven H, Willemsen MH.

Genet Res (Camb). 2015 Oct 6;97:e19. doi: 10.1017/S001667231500021X.

PMID:
26438105
9.

Correction: Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population.

Beaney KE, Cooper JA, Ullah Shahid S, Ahmed W, Qamar R, Drenos F, Crockard MA, Humphries SE.

PLoS One. 2015 Sep 28;10(9):e0139651. doi: 10.1371/journal.pone.0139651. eCollection 2015. No abstract available.

10.

Multimodality Imaging in Cardiooncology.

Pizzino F, Vizzari G, Qamar R, Bomzer C, Carerj S, Zito C, Khandheria BK.

J Oncol. 2015;2015:263950. doi: 10.1155/2015/263950. Epub 2015 Aug 2. Review.

11.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.

Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H.

Eur J Hum Genet. 2016 Apr;24(4):542-9. doi: 10.1038/ejhg.2015.157. Epub 2015 Jul 15.

PMID:
26173970
12.

Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population.

Beaney KE, Cooper JA, Ullah Shahid S, Ahmed W, Qamar R, Drenos F, Crockard MA, Humphries SE.

PLoS One. 2015 Jul 2;10(7):e0130754. doi: 10.1371/journal.pone.0130754. eCollection 2015. Erratum in: PLoS One. 2015;10(9):e0139651.

13.

A phase 2 study of weekly temsirolimus and bortezomib for relapsed or refractory B-cell non-Hodgkin lymphoma: A Wisconsin Oncology Network study.

Fenske TS, Shah NM, Kim KM, Saha S, Zhang C, Baim AE, Farnen JP, Onitilo AA, Blank JH, Ahuja H, Wassenaar T, Qamar R, Mansky P, Traynor AM, Mattison RJ, Kahl BS.

Cancer. 2015 Oct 1;121(19):3465-71. doi: 10.1002/cncr.29502. Epub 2015 Jun 16.

PMID:
26079295
14.

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.

PLoS One. 2015 Mar 16;10(3):e0119806. doi: 10.1371/journal.pone.0119806. eCollection 2015.

15.

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. 2015 Apr;135(4):1177-80. doi: 10.1038/jid.2014.517. Epub 2014 Dec 10. No abstract available.

16.

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.

17.

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.

18.

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
19.

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.

20.

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-Feb;43(1):31-9. doi: 10.1111/ceo.12369. Epub 2014 Sep 23.

PMID:
25091052
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