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Results: 1 to 20 of 109

1.

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
2.

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
3.

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
4.

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
5.

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
6.

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R.

Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019.

PMID:
22482803
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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]
8.

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
9.

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]
10.

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
[PubMed - indexed for MEDLINE]
11.

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R.

J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3.

PMID:
22217918
[PubMed - indexed for MEDLINE]
12.

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
13.

Improved characterization of FSHD mutations.

Zhang Y, Forner J, Fournet S, Jeanpierre M.

Ann Genet. 2001 Apr-Jun;44(2):105-10.

PMID:
11522250
[PubMed - indexed for MEDLINE]
14.

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
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
[PubMed - indexed for MEDLINE]
16.

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Barat-Houari M, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C, Khau Van Kien P, Thorel D, Tuffery-Giraud S, Vasseur F, Attarian S, Pouget J, Girardet A, Lévy N, Claustres M.

Eur J Hum Genet. 2010 May;18(5):533-8. doi: 10.1038/ejhg.2009.207. Epub 2009 Nov 25.

PMID:
19935833
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

[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]
18.

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
[PubMed - indexed for MEDLINE]
19.

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.

PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10.

PMID:
19593370
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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

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