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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 3
2012 3
2013 1
2014 7
2015 2
2016 1
2017 1
2024 0

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16 results

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Page 1
Prenylation defects in inherited retinal diseases.
Roosing S, Collin RW, den Hollander AI, Cremers FP, Siemiatkowska AM. Roosing S, et al. Among authors: siemiatkowska am. J Med Genet. 2014 Mar;51(3):143-51. doi: 10.1136/jmedgenet-2013-102138. Epub 2014 Jan 8. J Med Genet. 2014. PMID: 24401286 Review.
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Among authors: siemiatkowska am. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
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. van Huet RA, et al. Among authors: siemiatkowska am. Invest Ophthalmol Vis Sci. 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129. Invest Ophthalmol Vis Sci. 2014. PMID: 24876279 Free article.
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA. Bujakowska KM, et al. Among authors: siemiatkowska am. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168386 Free PMC article.
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FPM, Collin RWJ. Siemiatkowska AM, et al. Ophthalmology. 2013 Dec;120(12):2697-2705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29. Ophthalmology. 2013. PMID: 24084495
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: siemiatkowska am. 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.
16 results