Faradz SM - Search Results

1

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.

2

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.

3

Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients.

Goossens K, Juniarto AZ, Timmerman MA, Faradz SM, Wolffenbuttel KP, Drop SL, de Jong FH. Goossens K, et al. Among authors: faradz sm. Clin Endocrinol (Oxf). 2009 Nov;71(5):628-35. doi: 10.1111/j.1365-2265.2009.03550.x. Epub 2009 Feb 18. Clin Endocrinol (Oxf). 2009. PMID: 19226270

4

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.

5

Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads.

Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, Slowikowska-Hilczer J, Kula K, Faradz SM, Oosterhuis JW, Looijenga LH. Cools M, et al. Among authors: faradz sm. J Clin Endocrinol Metab. 2006 Jun;91(6):2404-13. doi: 10.1210/jc.2005-2554. Epub 2006 Apr 11. J Clin Endocrinol Metab. 2006. PMID: 16608895 Free article.

6

A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.

Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC. Mundhofir FE, et al. Among authors: faradz sm. Genet Couns. 2010;21(1):99-108. Genet Couns. 2010. PMID: 20420036

7

Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures.

Utari A, Chonchaiya W, Rivera SM, Schneider A, Hagerman RJ, Faradz SM, Ethell IM, Nguyen DV. Utari A, et al. Among authors: faradz sm. Am J Intellect Dev Disabil. 2010 Sep;115(5):433-43. doi: 10.1352/1944-7558-115.5.433. Am J Intellect Dev Disabil. 2010. PMID: 20687826 Free PMC article.

8

Identification of expanded alleles of the FMR1 gene among high-risk population in Indonesia by using blood spot screening.

Winarni TI, Utari A, Mundhofir FE, Tong T, Durbin-Johnson B, Faradz SM, Tassone F. Winarni TI, et al. Among authors: faradz sm. Genet Test Mol Biomarkers. 2012 Mar;16(3):162-6. doi: 10.1089/gtmb.2011.0089. Epub 2011 Oct 11. Genet Test Mol Biomarkers. 2012. PMID: 21988366 Free PMC article.

9

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.

10

The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.

Winarni TI, Mundhofir FE, Ediati A, Belladona M, Nillesen WM, Yntema HG, Hamel BC, Faradz SM, Hagerman RJ. Winarni TI, et al. Among authors: faradz sm. Clin Genet. 2013 Mar;83(3):263-8. doi: 10.1111/j.1399-0004.2012.01899.x. Epub 2012 Jun 6. Clin Genet. 2013. PMID: 22568721

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