Faradz SM - Search Results

1

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. Cayami FK, et al. Among authors: faradz sm. Mol Genet Genomic Med. 2019 Aug;7(8):e823. doi: 10.1002/mgg3.823. Epub 2019 Jun 17. Mol Genet Genomic Med. 2019. PMID: 31207160 Free PMC article.

2

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

3

Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.

Lim GX, Loo YL, Mundhofir FE, Cayami FK, Faradz SM, Rajan-Babu IS, Chong SS, Koh YY, Guan M. Lim GX, et al. Among authors: faradz sm. J Mol Diagn. 2015 May;17(3):302-14. doi: 10.1016/j.jmoldx.2014.12.005. Epub 2015 Mar 14. J Mol Diagn. 2015. PMID: 25776194 Free article.

4

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, Milewicz DM, Pals G, van Dijk FS. Micha D, et al. Among authors: faradz sm. Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10. Hum Mutat. 2015. PMID: 26247899

5

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate.

Cayami FK, Claeys L, de Ruiter R, Smilde BJ, Wisse L, Bogunovic N, Riesebos E, Eken L, Kooi I, Sistermans EA, Bravenboer N, Pals G, Faradz SMH, Sie D, Eekhoff EMW, Micha D. Cayami FK, et al. Among authors: faradz smh. Sci Rep. 2022 Aug 29;12(1):14686. doi: 10.1038/s41598-022-18512-1. Sci Rep. 2022. PMID: 36038602 Free PMC article.

6

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report.

Yuniati R, Hellmi RY, Dwijayanti GC, Astuti MDK, Pals G, Micha D, Faradz SM. Yuniati R, et al. Among authors: faradz sm. Case Rep Dermatol. 2022 Oct 6;14(3):291-301. doi: 10.1159/000525068. eCollection 2022 Sep-Dec. Case Rep Dermatol. 2022. PMID: 36824157 Free PMC article.

7

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

8

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.

9

Fragile X syndrome: clinical, cytogenetic and molecular screening among autism spectrum disorder children in Indonesia.

Winarni TI, Utari A, Mundhofir FE, Hagerman RJ, Faradz SM. Winarni TI, et al. Among authors: faradz sm. Clin Genet. 2013 Dec;84(6):577-80. doi: 10.1111/cge.12095. Epub 2013 Feb 20. Clin Genet. 2013. PMID: 23320543

10

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

Mundhofir FE, Sistermans EA, Faradz SM, Hamel BC. Mundhofir FE, et al. Among authors: faradz sm. Singapore Med J. 2013 Mar;54(3):e72-5. doi: 10.11622/smedj.2013055. Singapore Med J. 2013. PMID: 23546041 Free article.

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