den Hollander AI - Search Results

1

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. Micheal S, et al. Among authors: den hollander ai. Neurogenetics. 2016 Jan;17(1):17-23. doi: 10.1007/s10048-015-0462-0. Epub 2015 Oct 21. Neurogenetics. 2016. PMID: 26489929 Free PMC article.

2

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB. den Hollander AI, et al. Arch Ophthalmol. 2007 Jul;125(7):932-5. doi: 10.1001/archopht.125.7.932. Arch Ophthalmol. 2007. PMID: 17620573

3

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Among authors: den hollander ai. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074807

4

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.

5

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.

6

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.

7

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.

8

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.

9

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI. Bandah-Rozenfeld D, et al. Among authors: den hollander ai. Am J Hum Genet. 2010 Aug 13;87(2):199-208. doi: 10.1016/j.ajhg.2010.07.004. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673862 Free PMC article.

10

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.

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