van der Wielen MJ - Search Results

1

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Aten E, et al. Among authors: van der wielen mj. Hum Mutat. 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335. Hum Mutat. 2010. PMID: 20672378

2

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Oosterwijk JC, van der Wielen MJ, van de Vosse E, Voorhoeve E, Bakker E. Oosterwijk JC, et al. Among authors: van der wielen mj, van de vosse e. J Med Genet. 1995 Sep;32(9):736-9. doi: 10.1136/jmg.32.9.736. J Med Genet. 1995. PMID: 8544196 Free PMC article.

3

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity.

Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ. Oosterwijk JC, et al. Among authors: van der wielen mj, van ommen gj, van de vosse e. Hum Genet. 1997 Oct;100(5-6):520-4. doi: 10.1007/s004390050546. Hum Genet. 1997. PMID: 9341865

4

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: van der wielen mj. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686

5

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.

Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR. Bakker E, et al. Muscle Nerve Suppl. 1995;2:S39-44. Muscle Nerve Suppl. 1995. PMID: 7739624 Free article.

6

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.

Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR. Bakker E, et al. Muscle Nerve Suppl. 1995;(2):S39-44. Muscle Nerve Suppl. 1995. PMID: 23573585

7

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, Wit JM, Losekoot M. Visser R, et al. Among authors: van der wielen mj. Am J Med Genet A. 2009 Feb 15;149A(4):806-8. doi: 10.1002/ajmg.a.32694. Am J Med Genet A. 2009. PMID: 19291764 No abstract available.

8

Somatic mosaicism in FSHD often goes undetected.

Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: van der wielen mj. Ann Neurol. 2004 Jun;55(6):845-50. doi: 10.1002/ana.20106. Ann Neurol. 2004. PMID: 15174019

9

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.

van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. van Deutekom JC, et al. Among authors: van der wielen mj. Hum Mol Genet. 1996 Dec;5(12):1997-2003. doi: 10.1093/hmg/5.12.1997. Hum Mol Genet. 1996. PMID: 8968754

10

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.

Bakker E, Van der Wielen MJ, Voorhoeve E, Ippel PF, Padberg GW, Frants RR, Wijmenga C. Bakker E, et al. Among authors: van der wielen mj. J Med Genet. 1996 Jan;33(1):29-35. doi: 10.1136/jmg.33.1.29. J Med Genet. 1996. PMID: 8825045 Free PMC article.

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