Literature DB >> 1642241

Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).

J R Gilbert1, J M Stajich, M C Speer, J M Vance, C S Stewart, L H Yamaoka, F Samson, M Fardeau, T G Potter, A D Roses.   

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) has been localized to the 4q35-qter region of chromosome 4. Linkage analyses of two polymorphic markers from the region, D4S139 and D4S163, have been carried out using four large multigenerational FSHD families. The results indicate that both markers are closely linked to FSHD, with D4S139 being the closest proximal marker to FSHD.

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Year:  1992        PMID： 1642241      PMCID： PMC1682691     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

Review 1.  The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Authors:  Silvère M van der Maarel; Rune R Frants
Journal:  Am J Hum Genet       Date:  2005-01-24       Impact factor: 11.025

2.  Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

Authors:  R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

3.  A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S T Winokur; B Schutte; B Weiffenbach; S S Washington; D McElligott; A Chakravarti; J H Wasmuth; M R Altherr
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

4.  The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

Authors:  S T Winokur; U Bengtsson; J Feddersen; K D Mathews; B Weiffenbach; H Bailey; R P Markovich; J C Murray; J J Wasmuth; M R Altherr
Journal:  Chromosome Res       Date:  1994-05       Impact factor: 5.239

5.  Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.

Authors:  Dalila Laoudj-Chenivesse; Gilles Carnac; Catherine Bisbal; Gerald Hugon; Sandrine Bouillot; Claude Desnuelle; Yegor Vassetzky; Anne Fernandez
Journal:  J Mol Med (Berl)       Date:  2004-11-17       Impact factor: 4.599

6.  Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

Authors:  J R Gilbert; J M Stajich; S Wall; S C Carter; H Qiu; J M Vance; C S Stewart; M C Speer; J Pufky; L H Yamaoka
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

Review 7.  The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.

Authors:  Daphne Selvaggia Cabianca; Davide Gabellini
Journal:  J Cell Biol       Date:  2010-12-13       Impact factor: 10.539

8.  Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable.

Authors:  Mehmet Demirhan; Ozgur Uysal; Ata Can Atalar; Onder Kilicoglu; Piraye Serdaroglu
Journal:  Clin Orthop Relat Res       Date:  2009-03-31       Impact factor: 4.176

9.  Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.

Authors:  R Tupler; G Perini; M A Pellegrino; M R Green
Journal:  Proc Natl Acad Sci U S A       Date:  1999-10-26       Impact factor: 11.205

10.  Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S Cacurri; G Deidda; N Piazzo; A Novelletto; I La Cesa; S Servidei; G Galluzzi; C Wijmenga; R R Frants; L Felicetti
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132
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