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Volumn 33, Issue 5, 1996, Pages 366-370

Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy

Author keywords

4q35 monosomy; FSHD

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 4Q; CONTROLLED STUDY; DNA DETERMINATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE DELETION; GENE LOCUS; GENE TRANSLOCATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MONOSOMY; NEUROMUSCULAR DISEASE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SOUTHERN BLOTTING; TANDEM REPEAT; TELOMERE;

EID: 0030009384     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.5.366     Document Type: Article
Times cited : (106)

References (16)
  • 1
    • 0001283510 scopus 로고
    • Facioscapulohumeral dystrophy and the scapuloperoneal syndrone
    • Engel AG, Banker BQ, eds. New York: McGraw-Hill
    • Munsat TL. Facioscapulohumeral dystrophy and the scapuloperoneal syndrone. In: Engel AG, Banker BQ, eds. Myology. New York: McGraw-Hill, 1986:1251-66.
    • (1986) Myology , pp. 1251-1266
    • Munsat, T.L.1
  • 3
    • 17344371337 scopus 로고
    • Genetic counselling in facioscapulohumeral muscular dystrophy
    • Lunt PW, Harper PS. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 1991;26:755-60.
    • (1991) J Med Genet , vol.26 , pp. 755-760
    • Lunt, P.W.1    Harper, P.S.2
  • 4
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
    • Wijmenga G, Hewitt JE, Sandkuijl LA, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genet 1992;2:26-30.
    • (1992) Nature Genet , vol.2 , pp. 26-30
    • Wijmenga, G.1    Hewitt, J.E.2    Sandkuijl, L.A.3
  • 5
    • 0028833769 scopus 로고
    • High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
    • Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 1995;56:99-105.
    • (1995) Am J Hum Genet , vol.56 , pp. 99-105
    • Zatz, M.1    Marie, S.K.2    Passos-Bueno, M.R.3
  • 6
    • 0026781017 scopus 로고
    • Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter
    • Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992;51:411-15.
    • (1992) Am J Hum Genet , vol.51 , pp. 411-415
    • Wijmenga, C.1    Sandkuijl, L.A.2    Moerer, P.3
  • 7
    • 0026700969 scopus 로고
    • Linkage localization of facioscapulohumeral muscular dystrophy (FHSD) in 4q35
    • Matthews KD, Mills KA, Bosch EP, et al. Linkage localization of facioscapulohumeral muscular dystrophy (FHSD) in 4q35. Am J Hum Genet 1992;51:428-31.
    • (1992) Am J Hum Genet , vol.51 , pp. 428-431
    • Matthews, K.D.1    Mills, K.A.2    Bosch, E.P.3
  • 8
    • 0026732563 scopus 로고
    • Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD)
    • Mills KA, Buetow KH, Xu Y, et al. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1992;51:432-9.
    • (1992) Am J Hum Genet , vol.51 , pp. 432-439
    • Mills, K.A.1    Buetow, K.H.2    Xu, Y.3
  • 9
    • 0026643931 scopus 로고
    • Linkage studies in facioscapulohumeral muscular dystrophy (FSHD)
    • Gilbert JR, Stajich JM, Speer MC, et al. Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1992;51:424-7.
    • (1992) Am J Hum Genet , vol.51 , pp. 424-427
    • Gilbert, J.R.1    Stajich, J.M.2    Speer, M.C.3
  • 10
    • 0026764811 scopus 로고
    • Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35
    • Weiffenbach B, Bagley R, Falls K, et al. Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. Am J Hum Genet 1992;51:416-23.
    • (1992) Am J Hum Genet , vol.51 , pp. 416-423
    • Weiffenbach, B.1    Bagley, R.2    Falls, K.3
  • 11
    • 0026702158 scopus 로고
    • Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: Combined analysis of an international consortium
    • Sarfarazi M, Wijmenga C, Upadhyaya M, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992;51:396-403.
    • (1992) Am J Hum Genet , vol.51 , pp. 396-403
    • Sarfarazi, M.1    Wijmenga, C.2    Upadhyaya, M.3
  • 12
    • 0026693595 scopus 로고
    • The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)
    • Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1992;51:404-10.
    • (1992) Am J Hum Genet , vol.51 , pp. 404-410
    • Upadhyaya, M.1    Lunt, P.2    Sarfarazi, M.3    Broadhead, W.4    Farnham, J.5    Harper, P.S.6
  • 13
    • 0003995432 scopus 로고
    • Human cytogenetics database
    • Baraister M, Winter RM, eds. Oxford: Oxford University Press
    • Schinzel A. Human cytogenetics database. In: Baraister M, Winter RM, eds. Oxford Medical Database. Oxford: Oxford University Press, 1994.
    • (1994) Oxford Medical Database
    • Schinzel, A.1
  • 14
    • 0023792118 scopus 로고
    • Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes
    • Lin AE, Garver KL, Diggans G, et al. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. Am J Med Genet 1988;31:533-48.
    • (1988) Am J Med Genet , vol.31 , pp. 533-548
    • Lin, A.E.1    Garver, K.L.2    Diggans, G.3
  • 15
    • 0019522520 scopus 로고
    • High resolution R and G banding on the same preparation
    • Dutrillaux B, Viegas-Pequignot E. High resolution R and G banding on the same preparation. Hum Genet 1981;57:93-5.
    • (1981) Hum Genet , vol.57 , pp. 93-95
    • Dutrillaux, B.1    Viegas-Pequignot, E.2
  • 16
    • 0027379761 scopus 로고
    • Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene region
    • Wijmenga C, Wright TJ, Baan MJ, et al. Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene region. Hum Mol Genet 1993;2:1667-72.
    • (1993) Hum Mol Genet , vol.2 , pp. 1667-1672
    • Wijmenga, C.1    Wright, T.J.2    Baan, M.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.