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Results: 1 to 20 of 103

1.

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.

PMID:
20206332
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.

Rossi M, Ricci E, Colantoni L, Galluzzi G, Frusciante R, Tonali PA, Felicetti L.

BMC Med Genet. 2007 Mar 2;8:8.

PMID:
17335567
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
17924332
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
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.

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

PMID:
15467981
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease.

Tsumagari K, Chen D, Hackman JR, Bossler AD, Ehrlich M.

J Med Genet. 2010 Nov;47(11):745-51. doi: 10.1136/jmg.2009.076703. Epub 2010 Aug 15.

PMID:
20710047
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
20736973
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

Hybridization analysis of D4Z4 repeat arrays linked to FSHD.

Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ.

Chromosoma. 2007 Apr;116(2):107-16. Epub 2006 Nov 28.

PMID:
17131163
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A simplified approach for FSHD molecular testing.

Papanikos F, Skoulatou C, Sakellariou P, Kekou K, Christopoulos TK, Kanavakis E, Traeger-Synodinos J, Ioannou PC.

Clin Chim Acta. 2014 Feb 15;429:96-103. doi: 10.1016/j.cca.2013.11.032. Epub 2013 Dec 7.

PMID:
24321734
[PubMed - indexed for MEDLINE]
11.

Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.

Cacurri S, Piazzo N, Deidda G, Vigneti E, Galluzzi G, Colantoni L, Merico B, Ricci E, Felicetti L.

Am J Hum Genet. 1998 Jul;63(1):181-90.

PMID:
9634507
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
Free Article
13.

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.

Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M.

J Med Genet. 2007 Mar;44(3):215-8. Epub 2006 Sep 20.

PMID:
16987949
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population].

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

Zhonghua Yi Xue Za Zhi. 2009 Feb 10;89(5):304-9. Chinese.

PMID:
19563705
[PubMed - indexed for MEDLINE]
15.

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM.

Hum Mol Genet. 2000 Nov 22;9(19):2879-84.

PMID:
11092764
[PubMed - indexed for MEDLINE]
Free Article
16.

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
[PubMed - indexed for MEDLINE]
17.

[Mechanism of translocation between chromosomes 4q and 10q in facioscapulohumeral muscular dystrophy].

Wang N, Wu ZY, Wang CD, Wang ZQ, Lin MT, Fang L, Murong SX.

Zhonghua Yi Xue Za Zhi. 2003 Apr 25;83(8):650-3. Chinese.

PMID:
12887821
[PubMed - indexed for MEDLINE]
18.

Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event.

Rudd MK, Endicott RM, Friedman C, Walker M, Young JM, Osoegawa K; NISC Comparative Sequencing Program, de Jong PJ, Green ED, Trask BJ.

Genome Res. 2009 Jan;19(1):33-41. doi: 10.1101/gr.083170.108. Epub 2008 Oct 24.

PMID:
18952852
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

Nguyen K, Walrafen P, Bernard R, Attarian S, Chaix C, Vovan C, Renard E, Dufrane N, Pouget J, Vannier A, Bensimon A, Lévy N.

Ann Neurol. 2011 Oct;70(4):627-33. doi: 10.1002/ana.22513.

PMID:
22028222
[PubMed - indexed for MEDLINE]
20.

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