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1
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD).
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2
Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.
Am J Hum Genet. 1992 Aug;51(2):416-23.
3
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.
Am J Hum Genet. 1992 Aug;51(2):411-5.
4
Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.
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Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.
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6
Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).
Hum Genet. 1994 Oct;94(4):367-74. doi: 10.1007/BF00201595.
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Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.
Am J Hum Genet. 1992 Aug;51(2):396-403.
8
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
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Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
Am J Hum Genet. 1993 Aug;53(2):401-8.
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The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).
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引用本文的文献
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The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.
J Cell Biol. 2010 Dec 13;191(6):1049-60. doi: 10.1083/jcb.201007028.
2
Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable.
Clin Orthop Relat Res. 2009 Aug;467(8):2090-7. doi: 10.1007/s11999-009-0815-9. Epub 2009 Mar 31.
3
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.
Am J Hum Genet. 2005 Mar;76(3):375-86. doi: 10.1086/428361. Epub 2005 Jan 24.
4
Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.
J Mol Med (Berl). 2005 Mar;83(3):216-24. doi: 10.1007/s00109-004-0583-7. Epub 2004 Nov 17.
5
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.
Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12650-4. doi: 10.1073/pnas.96.22.12650.
6
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
J Med Genet. 1998 Sep;35(9):778-83. doi: 10.1136/jmg.35.9.778.
7
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
J Med Genet. 1996 May;33(5):366-70. doi: 10.1136/jmg.33.5.366.
8
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
Am J Hum Genet. 1993 Aug;53(2):401-8.
9
10
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.
Chromosome Res. 1994 May;2(3):225-34. doi: 10.1007/BF01553323.
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