Lemmers RJLF - Search Results

1

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.

Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP. Vishnu VY, et al. Among authors: lemmers rjlf. Eur J Hum Genet. 2024 Apr 25. doi: 10.1038/s41431-024-01577-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38664571

2

Analysis of regulatory elements involved in stress-induced and organ-specific expression of tobacco acidic and basic beta-1,3-glucanase genes.

van de Rhee MD, Lemmers R, Bol JF. van de Rhee MD, et al. Plant Mol Biol. 1993 Feb;21(3):451-61. doi: 10.1007/BF00028803. Plant Mol Biol. 1993. PMID: 8443340

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. Nat Genet. 2002 Oct;32(2):235-6. doi: 10.1038/ng999. Epub 2002 Sep 23. Nat Genet. 2002. PMID: 12355084

4

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. 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.

5

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

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. 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

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy.

Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM. Buzhov BT, et al. Neuromuscul Disord. 2005 Jul;15(7):471-5. doi: 10.1016/j.nmd.2005.03.005. Neuromuscul Disord. 2005. PMID: 15935668

8

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. 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

9

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.

Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Lemmers RJ, et al. Am J Hum Genet. 2007 Nov;81(5):884-94. doi: 10.1086/521986. Epub 2007 Sep 7. Am J Hum Genet. 2007. PMID: 17924332 Free PMC article.

10

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. Snider L, et al. Hum Mol Genet. 2009 Jul 1;18(13):2414-30. doi: 10.1093/hmg/ddp180. Epub 2009 Apr 9. Hum Mol Genet. 2009. PMID: 19359275 Free PMC article.

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