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Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
Mol Vis. 2010 Dec 15;16:2753-9.
Mol Vis. 2010.
PMID: 21179430
Free PMC article.
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.
Siemiatkowska AM, et al. Among authors: arimadyo k.
Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18.
Mol Vis. 2011.
PMID: 22128245
Free PMC article.
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Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW.
Siemiatkowska AM, et al. Among authors: arimadyo k.
Mol Vis. 2012;18:2411-9. Epub 2012 Oct 3.
Mol Vis. 2012.
PMID: 23077400
Free PMC article.
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High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP.
Collin RW, et al. Among authors: arimadyo k.
Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185.
Invest Ophthalmol Vis Sci. 2011.
PMID: 21217109
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Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M, Collin RW, Malik A, Khan MI, Shah ST, Shah AA, Hussain A, Sadeque A, Arimadyo K, Ajmal M, Azam A, Qureshi N, Bokhari H, Strom TM, Cremers FP, Qamar R, den Hollander AI.
Azam M, et al. Among authors: arimadyo k.
Arch Ophthalmol. 2011 Oct;129(10):1377-8. doi: 10.1001/archophthalmol.2011.290.
Arch Ophthalmol. 2011.
PMID: 21987686
No abstract available.
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