Astuti GD - Search Results

1

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: astuti gd. Mol Vis. 2012;18:2411-9. Epub 2012 Oct 3. Mol Vis. 2012. PMID: 23077400 Free PMC article.

2

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: astuti gd. Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18. Mol Vis. 2011. PMID: 22128245 Free PMC article.

3

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Astuti GD, et al. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. Mol Genet Genomic Med. 2015. PMID: 25629076 Free PMC article.

4

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies.

Slijkerman RW, Song F, Astuti GD, Huynen MA, van Wijk E, Stieger K, Collin RW. Slijkerman RW, et al. Among authors: astuti gd. Prog Retin Eye Res. 2015 Sep;48:137-59. doi: 10.1016/j.preteyeres.2015.04.004. Epub 2015 May 1. Prog Retin Eye Res. 2015. PMID: 25936606 Review.

5

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. Astuti GD, et al. Eur J Hum Genet. 2016 Jul;24(7):1071-9. doi: 10.1038/ejhg.2015.241. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626312 Free PMC article.

6

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Astuti GD, Arno G, Hull S, Pierrache L, Venselaar H, Carss K, Raymond FL, Collin RW, Faradz SM, van den Born LI, Webster AR, Cremers FP. Astuti GD, et al. Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6180-6187. doi: 10.1167/iovs.16-20148. Invest Ophthalmol Vis Sci. 2016. PMID: 27842159

7

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM. Pierrache LHM, et al. Ophthalmology. 2017 Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13. Ophthalmology. 2017. PMID: 28412069 Free PMC article.

8

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S. Astuti GDN, et al. Genes (Basel). 2018 Jan 10;9(1):21. doi: 10.3390/genes9010021. Genes (Basel). 2018. PMID: 29320387 Free PMC article.

9

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Cremers FPM, Cornelis SS, Runhart EH, Astuti GDN. Cremers FPM, et al. Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5566-5568. doi: 10.1167/iovs.18-25944. Invest Ophthalmol Vis Sci. 2018. PMID: 30480704 No abstract available.

10

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.

Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB. Runhart EH, et al. Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256. doi: 10.1167/iovs.19-27524. Invest Ophthalmol Vis Sci. 2019. PMID: 31618761

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