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Items: 1 to 20 of 66

1.

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

van den Bergen JA, Robevska G, Eggers S, Riedl S, Grover SR, Bergman PB, Kimber C, Jiwane A, Khan S, Krausz C, Raza J, Atta I, Davis SR, Ono M, Harley V, Faradz SMH, Sinclair AH, Ayers KL.

Mol Genet Genomic Med. 2020 Jan 21:e1095. doi: 10.1002/mgg3.1095. [Epub ahead of print]

2.

Turner syndrome in diverse populations.

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M.

Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19.

PMID:
31854143
3.

Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.

Sihombing NRB, de Leeuw N, van Bokhoven H, Faradz SM.

BMJ Case Rep. 2019 Aug 30;12(8). pii: e230941. doi: 10.1136/bcr-2019-230941.

PMID:
31473642
4.

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

Cayami FK, Maugeri A, Treurniet S, Setijowati ED, Teunissen BP, Eekhoff EMW, Pals G, Faradz SM, Micha D.

Mol Genet Genomic Med. 2019 Aug;7(8):e823. doi: 10.1002/mgg3.823. Epub 2019 Jun 17.

5.

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia.

Engels M, Pijnenburg-Kleizen KJ, Utari A, Faradz SMH, Oude-Alink S, van Herwaarden AE, Span PN, Sweep FC, Claahsen-van der Grinten HL.

J Clin Endocrinol Metab. 2019 Nov 1;104(11):5065-5072. doi: 10.1210/jc.2019-00547.

PMID:
31090904
6.

Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia.

Brajadenta GS, Utari A, Patri S, Bilan F, Faradz SMH, Kitzis A, Thoreau V.

Ann Lab Med. 2019 Sep;39(5):503-506. doi: 10.3343/alm.2019.39.5.503. No abstract available.

7.

Training in clinical genetics and genetic counseling in Asia.

Cutiongco-de la Paz EM, Chung BH, Faradz SMH, Thong MK, David-Padilla C, Lai PS, Lin SP, Chen YH, Sura T, Laurino M.

Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):177-186. doi: 10.1002/ajmg.c.31703. Epub 2019 Apr 29.

PMID:
31037827
8.

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.

Ayers K, van den Bergen J, Robevska G, Listyasari N, Raza J, Atta I, Riedl S, Rothacker K, Choong C, Faradz SMH, Sinclair A.

J Med Genet. 2019 Jul;56(7):434-443. doi: 10.1136/jmedgenet-2018-105893. Epub 2019 Apr 24.

9.

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia.

Listyasari NA, Robevska G, Santosa A, Bouty A, Juniarto AZ, van den Bergen J, Ayers KL, Sinclair AH, Faradz SM.

J Invest Surg. 2019 Apr 23:1-7. doi: 10.1080/08941939.2019.1602690. [Epub ahead of print]

PMID:
31012339
10.

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.

Bouty A, Walton K, Listyasari NA, Robevska G, Van den Bergen J, Santosa A, Faradz SMH, Harrison C, Ayers KL, Sinclair AH.

J Endocr Soc. 2019 Feb 22;3(4):814-824. doi: 10.1210/js.2018-00333. eCollection 2019 Apr 1.

11.

Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care.

Ediati A, Verrips GHW, Juniarto AZ, Faradz SMH, Drop SLS, Dessens AB.

Front Pediatr. 2019 Jan 30;6:434. doi: 10.3389/fped.2018.00434. eCollection 2018.

12.

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.

Tan VJ, Lian M, Faradz SMH, Winarni TI, Chong SS.

Front Genet. 2018 Nov 27;9:582. doi: 10.3389/fgene.2018.00582. eCollection 2018.

13.

Social stigmatisation in late identified patients with disorders of sex development in Indonesia.

Ediati A, Juniarto AZ, Birnie E, Okkerse J, Wisniewski A, Drop S, Faradz SMH, Dessens A.

BMJ Paediatr Open. 2017 Oct 30;1(1):e000130. doi: 10.1136/bmjpo-2017-000130. eCollection 2017.

14.

Current practice for genetic counselling by nurses: An integrative review.

Barr JA, Tsai LP, Welch A, Faradz SMH, Lane-Krebs K, Howie V, Hillman W.

Int J Nurs Pract. 2018 Apr;24(2):e12629. doi: 10.1111/ijn.12629. Epub 2018 Feb 20. Review.

PMID:
29462836
15.

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene.

Lim GX, Yeo M, Koh YY, Winarni TI, Rajan-Babu IS, Chong SS, Faradz SM, Guan M.

PLoS One. 2017 Mar 9;12(3):e0173279. doi: 10.1371/journal.pone.0173279. eCollection 2017.

16.

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.

Ayers KL, Bouty A, Robevska G, van den Bergen JA, Juniarto AZ, Listyasari NA, Sinclair AH, Faradz SM.

Hum Genomics. 2017 Feb 16;11(1):1. doi: 10.1186/s40246-017-0098-2.

17.

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.

Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6180-6187. doi: 10.1167/iovs.16-20148.

PMID:
27842159
18.

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL.

Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4.

PMID:
26935236
19.

Association between methylenetetrahydrofolate reductase (MTHFR) polymorphism and carotid intima medial thickness progression in post ischaemic stroke patient.

Pramukarso DT, Faradz SM, Sari S, Hadisaputro S.

Ann Transl Med. 2015 Dec;3(21):324. doi: 10.3978/j.issn.2305-5839.2015.12.22.

20.

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.

Eur J Hum Genet. 2016 Jul;24(7):1071-9. doi: 10.1038/ejhg.2015.241. Epub 2015 Dec 2.

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