Faradz SMH - Search Results

1

Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.

Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL. Utari A, et al. Among authors: faradz smh. Front Endocrinol (Lausanne). 2022 Dec 15;13:1015973. doi: 10.3389/fendo.2022.1015973. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36589846 Free PMC article.

2

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. 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.

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. 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

Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development.

Elfferich P, Juniarto AZ, Dubbink HJ, van Royen ME, Molier M, Hoogerbrugge J, Houtsmuller AB, Trapman J, Santosa A, de Jong FH, Drop SL, Faradz SM, Bruggenwirth H, Brinkmann AO. Elfferich P, et al. Sex Dev. 2009;3(5):237-44. doi: 10.1159/000252814. Epub 2009 Oct 23. Sex Dev. 2009. PMID: 19851057

5

Tumor risk in disorders of sex development.

Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, Cools M, Wolffenbuttel KP, Lebl J, Drop SL, Looijenga LH. Pleskacova J, et al. Sex Dev. 2010 Sep;4(4-5):259-69. doi: 10.1159/000314536. Epub 2010 Jun 17. Sex Dev. 2010. PMID: 20558977 Review.

6

Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers.

Widayanti CG, Ediati A, Tamam M, Faradz SM, Sistermans EA, Plass AM. Widayanti CG, et al. Ethn Health. 2011 Aug-Oct;16(4-5):483-99. doi: 10.1080/13557858.2011.564607. Ethn Health. 2011. PMID: 21797731

7

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. 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.

8

Correlation between androstenedione and 17-hydroxyprogesterone levels in the saliva and plasma of patients with congenital adrenal hyperplasia.

Juniarto AZ, Goossens K, Setyawati BA, Drop SL, de Jong FH, Faradz SM. Juniarto AZ, et al. Singapore Med J. 2011 Nov;52(11):810-3. Singapore Med J. 2011. PMID: 22173250 Free article.

9

Application of the new classification on patients with a disorder of sex development in indonesia.

Juniarto AZ, van der Zwan YG, Santosa A, Hersmus R, de Jong FH, Olmer R, Bruggenwirth HT, Themmen AP, Wolffenbuttel KP, Looijenga LH, Faradz SM, Drop SL. Juniarto AZ, et al. Int J Endocrinol. 2012;2012:237084. doi: 10.1155/2012/237084. Epub 2011 Dec 29. Int J Endocrinol. 2012. PMID: 22253624 Free PMC 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. 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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