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Results: 1 to 20 of 163

Similar articles for PubMed (Select 22482803)

1.

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.

2.

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
3.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

4.

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.

5.

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
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.

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.

8.

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
9.

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.

10.

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
11.

Improved characterization of FSHD mutations.

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

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

PMID:
11522250
12.

Facioscapulohumeral muscular dystrophy: more complex than it appears.

Ricci G, Zatz M, Tupler R.

Curr Mol Med. 2014 Oct 10. [Epub ahead of print]

PMID:
25323867
13.

Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers.

Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H.

J Neurol. 2003 Aug;250(8):932-7.

PMID:
12928911
14.

Molecular basis of facioscapulohumeral muscular dystrophy.

Tupler R, Gabellini D.

Cell Mol Life Sci. 2004 Mar;61(5):557-66. Review.

PMID:
15004695
15.

Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.

Zhang YZ, Sun SC, Wu HC, Fan QS, Song YJ, Yu W, Jeanpierre M, Urtizberea JA.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):380-2.

PMID:
16086272
16.

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.

Hum Genet. 2012 Mar;131(3):325-40. doi: 10.1007/s00439-011-1100-z. Epub 2011 Oct 9. Review.

PMID:
21984394
17.

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.

18.

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

Goto K, Nishino I, Hayashi YK.

Neuromuscul Disord. 2006 Apr;16(4):256-61. Epub 2006 Mar 20.

PMID:
16545566
19.

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
20.

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation.

Bodega B, Ramirez GD, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E.

BMC Biol. 2009 Jul 16;7:41. doi: 10.1186/1741-7007-7-41.

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