Frants RR - Search Results

1

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.

2

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

3

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

4

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

5

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.

6

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.

Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Buzhov BT, et al. Among authors: frants rr. Hum Genet. 2005 Mar;116(4):262-6. doi: 10.1007/s00439-004-1237-0. Epub 2005 Jan 12. Hum Genet. 2005. PMID: 15645183

7

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.

8

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

9

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

10

Facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR, Padberg GW. van der Maarel SM, et al. Among authors: frants rr. Biochim Biophys Acta. 2007 Feb;1772(2):186-94. doi: 10.1016/j.bbadis.2006.05.009. Epub 2006 Jun 6. Biochim Biophys Acta. 2007. PMID: 16837171 Free article. Review.

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