Frants R - Search Results

1

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Tupler R, et al. Among authors: frants r. J Med Genet. 1996 May;33(5):366-70. doi: 10.1136/jmg.33.5.366. J Med Genet. 1996. PMID: 8733044 Free PMC article.

2

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.

Upadhyaya M, Jardine P, Maynard J, Farnham J, Sarfarazi M, Wijmenga C, Hewitt JE, Frants R, Harper PS, Lunt PW. Upadhyaya M, et al. Among authors: frants r. Hum Mol Genet. 1993 Jul;2(7):981-7. doi: 10.1093/hmg/2.7.981. Hum Mol Genet. 1993. PMID: 8364581

3

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.

van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. van Geel M, et al. Among authors: frants rr. Genomics. 2002 Feb;79(2):210-7. doi: 10.1006/geno.2002.6690. Genomics. 2002. PMID: 11829491

4

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R. Zatz M, et al. Among authors: frants r. Am J Hum Genet. 1995 Jan;56(1):99-105. Am J Hum Genet. 1995. PMID: 7825608 Free PMC article.

5

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

6

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

7

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

8

[Gene diagnosis of facioscapulohumeral muscular dystrophy].

Zhang JL, Shen DG, Zhou PK, Liu JW, Jia N, Liu H, Wang HB, Yang SX, Frants RR. Zhang JL, et al. Among authors: frants rr. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):232-4. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003. PMID: 12778451 Chinese.

9

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.

10

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

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