Frants RR - Search Results

1

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Lemmers RJ, et al. Among authors: frants rr. Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143600 Free PMC article.

2

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S. Klooster R, et al. Eur J Hum Genet. 2009 Dec;17(12):1615-24. doi: 10.1038/ejhg.2009.62. Epub 2009 Oct 7. Eur J Hum Genet. 2009. PMID: 19809486 Free PMC article.

3

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: frants rr. Nat Genet. 2002 Oct;32(2):235-6. doi: 10.1038/ng999. Epub 2002 Sep 23. Nat Genet. 2002. PMID: 12355084

4

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.

van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. van Overveld PG, et al. Among authors: frants rr. Nat Genet. 2003 Dec;35(4):315-7. doi: 10.1038/ng1262. Epub 2003 Nov 23. Nat Genet. 2003. PMID: 14634647

5

Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.

Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: frants rr. Am J Hum Genet. 2004 Jul;75(1):44-53. doi: 10.1086/422175. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154112 Free PMC article.

6

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: frants rr. Ann Neurol. 2004 Jun;55(6):845-50. doi: 10.1002/ana.20106. Ann Neurol. 2004. PMID: 15174019

7

Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Lemmers RJ, et al. Among authors: frants rr. Am J Hum Genet. 2004 Dec;75(6):1124-30. doi: 10.1086/426035. Epub 2004 Oct 4. Am J Hum Genet. 2004. PMID: 15467981 Free PMC article.

8

The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR. van der Maarel SM, et al. Among authors: frants rr. Am J Hum Genet. 2005 Mar;76(3):375-86. doi: 10.1086/428361. Epub 2005 Jan 24. Am J Hum Genet. 2005. PMID: 15674778 Free PMC article. Review. No abstract available.

9

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.

van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. van Overveld PG, et al. Among authors: frants rr. Ann Neurol. 2005 Oct;58(4):569-76. doi: 10.1002/ana.20625. Ann Neurol. 2005. PMID: 16178028

10

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M. Tonini MM, et al. Among authors: frants rr. Hum Genet. 2006 Mar;119(1-2):23-8. doi: 10.1007/s00439-005-0100-2. Epub 2005 Dec 8. Hum Genet. 2006. PMID: 16341710

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