Faradz SM - Search Results

1

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

2

The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.

Winarni TI, Sumekar TA, Sarjana W, Hardian H, Hagerman RJ, Faradz SM. Winarni TI, et al. Among authors: faradz sm. Intractable Rare Dis Res. 2022 Nov;11(4):215-218. doi: 10.5582/irdr.2022.01075. Intractable Rare Dis Res. 2022. PMID: 36457587 Free PMC article.

3

Pituitary Macroadenoma in a Girl with Male Karyotype: A Rare Case Study.

Shahab F, Minuljo TT, Allo CL, Priambada D, Ariani MD, Faradz S. Shahab F, et al. Acta Med Indones. 2023 Jan;55(1):87-94. Acta Med Indones. 2023. PMID: 36999260 Free article.

4

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: faradz sm. Mol Vis. 2010 Dec 15;16:2753-9. Mol Vis. 2010. PMID: 21179430 Free PMC article.

5

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

6

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP. Siemiatkowska AM, et al. Among authors: faradz sm. Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014. Mol Vis. 2014. PMID: 24940029 Free PMC article.

7

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. Among authors: faradz sm. 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.

8

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. Among authors: faradz sm. Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6180-6187. doi: 10.1167/iovs.16-20148. Invest Ophthalmol Vis Sci. 2016. PMID: 27842159

9

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

Setijowati ED, van Dijk FS, Cobben JM, van Rijn RR, Sistermans EA, Faradz SM, Kawiyana S, Pals G. Setijowati ED, et al. Among authors: faradz sm. Eur J Med Genet. 2012 Jan;55(1):17-21. doi: 10.1016/j.ejmg.2011.10.002. Epub 2011 Oct 24. Eur J Med Genet. 2012. PMID: 22085994

10

A cytogenetic study in a large population of intellectually disabled Indonesians.

Mundhofir FE, Winarni TI, van Bon BW, Aminah S, Nillesen WM, Merkx G, Smeets D, Hamel BC, Faradz SM, Yntema HG. Mundhofir FE, et al. Among authors: faradz sm. Genet Test Mol Biomarkers. 2012 May;16(5):412-7. doi: 10.1089/gtmb.2011.0157. Epub 2011 Dec 22. Genet Test Mol Biomarkers. 2012. PMID: 22191675 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

90 results

Search Page

Filters