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Items: 1 to 20 of 504

1.

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.

Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.

2.

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.

Am J Hum Genet. 2004 Dec;75(6):1124-30. Epub 2004 Oct 4.

3.
4.

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY.

Eur J Hum Genet. 2011 Jan;19(1):64-9. doi: 10.1038/ejhg.2010.143. Epub 2010 Aug 25.

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.

Nat Genet. 2002 Oct;32(2):235-6. Epub 2002 Sep 23.

PMID:
12355084
6.

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.

Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M.

Neurology. 2003 Jul 22;61(2):178-83.

PMID:
12874395
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.

Neuromuscul Disord. 2005 Jul;15(7):471-5.

PMID:
15935668
8.

Genomic analysis of facioscapulohumeral muscular dystrophy.

Clapp J, Bolland DJ, Hewitt JE.

Brief Funct Genomic Proteomic. 2003 Oct;2(3):213-23. Review.

PMID:
15239924
9.

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.

Hum Mutat. 2009 Oct;30(10):1449-59. doi: 10.1002/humu.21091.

PMID:
19728363
10.

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.

Am J Hum Genet. 2004 Jul;75(1):44-53. Epub 2004 May 20.

11.

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.

Wohlgemuth M, Lemmers RJ, van der Kooi EL, van der Wielen MJ, van Overveld PG, Dauwerse H, Bakker E, Frants RR, Padberg GW, van der Maarel SM.

Neurology. 2003 Oct 14;61(7):909-13.

PMID:
14557558
12.

[Analysis of alleles 4qA and 4qB of the chromosome 4q subtelomere in Chinese Han population].

Chen ZJ, Wang ZQ, Wu ZY, Wang N, Lin MT, Murong SX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):334-7. Chinese.

PMID:
17557251
13.
14.

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.

Ann Neurol. 2005 Oct;58(4):569-76.

PMID:
16178028
15.

Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.

Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M.

Mol Genet Metab. 2001 Nov;74(3):322-31.

PMID:
11708861
16.

Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).

Fisher J, Upadhyaya M.

Neuromuscul Disord. 1997 Jan;7(1):55-62. Review.

PMID:
9132141
17.

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.

de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.

Neurology. 2007 Sep 4;69(10):1018-26.

PMID:
17785671
18.

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.

Genomics. 2002 Feb;79(2):210-7.

PMID:
11829491
19.

Facioscapulohumeral muscular dystrophy.

Tawil R, Van Der Maarel SM.

Muscle Nerve. 2006 Jul;34(1):1-15. Review.

PMID:
16508966
20.

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.

Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM.

Am J Hum Genet. 2010 Mar 12;86(3):364-77. doi: 10.1016/j.ajhg.2010.01.035. Epub 2010 Mar 4.

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