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Items: 1 to 20 of 186

1.
2.

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
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.

4.

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.

5.

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.

6.
7.

[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
8.

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
9.

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
10.

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
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.

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.

13.

Facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Desnuelle C.

Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Review.

14.

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.

15.

[Facioscapulohumeral muscular dystrophy type 2].

Sacconi S, Desnuelle C.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):564-72. doi: 10.1016/j.neurol.2013.02.004. Epub 2013 Aug 20. French.

PMID:
23969240
16.

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Broucqsault N, Morere J, Gaillard MC, Dumonceaux J, Torrents J, Salort-Campana E, Maues De Paula A, Bartoli M, Fernandez C, Chesnais AL, Ferreboeuf M, Sarda L, Dufour H, Desnuelle C, Attarian S, Levy N, Nguyen K, Magdinier F, Roche S.

Hum Mol Genet. 2013 Oct 15;22(20):4206-14. doi: 10.1093/hmg/ddt272. Epub 2013 Jun 17.

PMID:
23777630
17.

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
18.

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
19.

A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy.

Pirozhkova I, Petrov A, Dmitriev P, Laoudj D, Lipinski M, Vassetzky Y.

PLoS One. 2008;3(10):e3389. doi: 10.1371/journal.pone.0003389. Epub 2008 Oct 13.

20.

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

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