den Hollander AI - Search Results

1

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D… See abstract for full author list ➔ Aung T, et al. Among authors: den hollander ai. Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29. Nat Genet. 2017. PMID: 28553957 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. Among authors: den hollander ai. 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. Among authors: den hollander ai. Mol Vis. 2009 Dec 3;15:2526-34. Mol Vis. 2009. PMID: 19960070 Free PMC article.

4

Association of tumor necrosis factor alpha gene polymorphism G-308A with pseudoexfoliative glaucoma in the Pakistani population.

Khan MI, Micheal S, Rana N, Akhtar F, den Hollander AI, Ahmed A, Qamar R. Khan MI, et al. Among authors: den hollander ai. Mol Vis. 2009 Dec 22;15:2861-7. Mol Vis. 2009. PMID: 20029655 Free PMC article.

5

Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts.

Ayub H, Khan MI, Micheal S, Akhtar F, Ajmal M, Shafique S, Ali SH, den Hollander AI, Ahmed A, Qamar R. Ayub H, et al. Among authors: den hollander ai. Mol Vis. 2010 Jan 11;16:18-25. Mol Vis. 2010. PMID: 20069064 Free PMC article.

6

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. Louie CM, et al. Among authors: den hollander ai. Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081859 Free PMC article.

7

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. Among authors: den hollander ai. Mol Vis. 2010 Apr 29;16:774-81. Mol Vis. 2010. PMID: 20454696 Free PMC article.

8

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: den hollander ai. Mol Vis. 2010 Dec 15;16:2753-9. Mol Vis. 2010. PMID: 21179430 Free PMC article.

9

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: den hollander ai. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010.10.047. Epub 2011 Feb 18. Ophthalmology. 2011. PMID: 21310491

10

XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population.

Yousaf S, Khan MI, Micheal S, Akhtar F, Ali SH, Riaz M, Ali M, Lall P, Waheed NK, den Hollander AI, Ahmed A, Qamar R. Yousaf S, et al. Among authors: den hollander ai. Mol Vis. 2011;17:1153-63. Epub 2011 May 4. Mol Vis. 2011. PMID: 21617750 Free PMC article.

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