Sistermans EA - Search Results

1

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: sistermans ea. Sci Rep. 2022 Aug 29;12(1):14686. doi: 10.1038/s41598-022-18512-1. Sci Rep. 2022. PMID: 36038602 Free PMC article.

2

PPIB mutations cause severe osteogenesis imperfecta.

van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G. van Dijk FS, et al. Among authors: sistermans ea. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781681 Free PMC article.

3

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. Among authors: sistermans ea. Ethn Health. 2011 Aug-Oct;16(4-5):483-99. doi: 10.1080/13557858.2011.564607. Ethn Health. 2011. PMID: 21797731

4

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. van Dijk FS, et al. Among authors: sistermans ea. Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10. Eur J Hum Genet. 2012. PMID: 21829228 Free PMC article.

5

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: sistermans ea. 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

6

Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

Ameziane N, Sie D, Dentro S, Ariyurek Y, Kerkhoven L, Joenje H, Dorsman JC, Ylstra B, Gille JJ, Sistermans EA, de Winter JP. Ameziane N, et al. Among authors: sistermans ea. Anemia. 2012;2012:132856. doi: 10.1155/2012/132856. Epub 2012 Jun 3. Anemia. 2012. PMID: 22720145 Free PMC article.

7

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: sistermans ea. Singapore Med J. 2013 Mar;54(3):e72-5. doi: 10.11622/smedj.2013055. Singapore Med J. 2013. PMID: 23546041 Free article.

8

PLS3 mutations in X-linked osteoporosis with fractures.

van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G. van Dijk FS, et al. Among authors: sistermans ea. N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088043 Free article.

9

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis.

Holstege H, Pfeiffer W, Sie D, Hulsman M, Nicholas TJ, Lee CC, Ross T, Lin J, Miller MA, Ylstra B, Meijers-Heijboer H, Brugman MH, Staal FJ, Holstege G, Reinders MJ, Harkins TT, Levy S, Sistermans EA. Holstege H, et al. Among authors: sistermans ea. Genome Res. 2014 May;24(5):733-42. doi: 10.1101/gr.162131.113. Epub 2014 Apr 23. Genome Res. 2014. PMID: 24760347 Free PMC article.

10

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: sistermans ea. Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10. Hum Mutat. 2015. PMID: 26247899

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