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Volumn 60, Issue 1, 1997, Pages 160-165

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME INACTIVATION; DISOMY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE TRANSLOCATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; PARENT; PRIORITY JOURNAL; SYMPTOMATOLOGY; X CHROMOSOME; X CHROMOSOME ABERRATION;

EID: 0031036182     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (95)

References (28)
  • 1
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 3
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16:11141-11156
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 5
    • 0025943652 scopus 로고
    • Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
    • Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT (1991) Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 49:951-960
    • (1991) Am J Hum Genet , vol.49 , pp. 951-960
    • Clemens, P.R.1    Fenwick, R.G.2    Chamberlain, J.S.3    Gibbs, R.A.4    De Andrade, M.5    Chakraborty, R.6    Caskey, C.T.7
  • 6
    • 0015246689 scopus 로고
    • Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal X inactivation
    • Cooper DW, VandeBerg JL, Sharman GB, Poole WE (1971) Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal X inactivation. Nat New Biol 230:155-157
    • (1971) Nat New Biol , vol.230 , pp. 155-157
    • Cooper, D.W.1    Vandeberg, J.L.2    Sharman, G.B.3    Poole, W.E.4
  • 7
    • 0027248861 scopus 로고
    • Uniparental disomy revisited: The first twelve years
    • Engel E (1993) Uniparental disomy revisited: the first twelve years. Am J Med Genet 46:670-674
    • (1993) Am J Med Genet , vol.46 , pp. 670-674
    • Engel, E.1
  • 8
    • 0024849533 scopus 로고
    • X-chromosome inactivation in the human cytotrophoblast
    • Harrison KB (1989) X-chromosome inactivation in the human cytotrophoblast. Cytogenet Cell Genet 52:37-41
    • (1989) Cytogenet Cell Genet , vol.52 , pp. 37-41
    • Harrison, K.B.1
  • 9
    • 0022571302 scopus 로고
    • Preferential X-chromosome activity in human female placental tissues
    • Harrison KB, Warburton D (1986) Preferential X-chromosome activity in human female placental tissues. Cytogenet Cell Genet 41:163-168
    • (1986) Cytogenet Cell Genet , vol.41 , pp. 163-168
    • Harrison, K.B.1    Warburton, D.2
  • 11
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509-517
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 12
    • 0029162269 scopus 로고
    • Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
    • Ledbetter DH, Engel E (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764
    • (1995) Hum Mol Genet , vol.4 , pp. 1757-1764
    • Ledbetter, D.H.1    Engel, E.2
  • 13
    • 0025733349 scopus 로고
    • Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy
    • Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG (1991) Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 40:354-364
    • (1991) Am J Med Genet , vol.40 , pp. 354-364
    • Lupski, J.R.1    Garcia, C.A.2    Zoghbi, H.Y.3    Hoffman, E.P.4    Fenwick, R.G.5
  • 14
    • 0029655347 scopus 로고    scopus 로고
    • Lack of X inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis
    • Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, et al (1996) Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet 58:161-170
    • (1996) Am J Hum Genet , vol.58 , pp. 161-170
    • Migeon, B.R.1    Jeppesen, P.2    Torchia, B.S.3    Fu, S.4    Dunn, M.A.5    Axelman, J.6    Schmeckpeper, B.J.7
  • 15
    • 0025407462 scopus 로고
    • Do twin lyons have larger spots?
    • Nance WE (1990) Do twin lyons have larger spots? Am J Hum Genet 46:646-648
    • (1990) Am J Hum Genet , vol.46 , pp. 646-648
    • Nance, W.E.1
  • 16
  • 17
    • 0026574487 scopus 로고
    • Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
    • Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR (1992) Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet 50:690-699
    • (1992) Am J Hum Genet , vol.50 , pp. 690-699
    • Pentao, L.1    Lewis, R.A.2    Ledbetter, D.H.3    Patel, P.I.4    Lupski, J.R.5
  • 22
    • 0015240843 scopus 로고
    • Late DNA replication in paternally derived X chromosome of female kangaroos
    • Sharman GB (1971) Late DNA replication in paternally derived X chromosome of female kangaroos. Nature 230:231-232
    • (1971) Nature , vol.230 , pp. 231-232
    • Sharman, G.B.1
  • 24
    • 0016692463 scopus 로고
    • Preferential inactivation of the paternally derived X chromosome in the extraembryonic membrane of the mouse
    • Takagi N, Sasaki M (1975) Preferential inactivation of the paternally derived X chromosome in the extraembryonic membrane of the mouse. Nature 256:640-641
    • (1975) Nature , vol.256 , pp. 640-641
    • Takagi, N.1    Sasaki, M.2
  • 25
    • 0024463137 scopus 로고
    • Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
    • Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, et al (1989) Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 45:373-380
    • (1989) Am J Hum Genet , vol.45 , pp. 373-380
    • Voss, R.1    Ben-Simon, E.2    Avital, A.3    Godfrey, S.4    Zlotogora, J.5    Dagan, J.6    Tikochinski, Y.7
  • 26
    • 0000787866 scopus 로고
    • The sex chromosomes and X chromosome inactivation
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Willard HF (1995) The sex chromosomes and X chromosome inactivation. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th ed. McGraw-Hill, New York, pp 719-737
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 719-737
    • Willard, H.F.1
  • 27
  • 28
    • 0027410123 scopus 로고
    • In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy
    • Zneimer SM, Schneider NR, Richards CS (1993) In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy. Am J Med Genet 45:601-605
    • (1993) Am J Med Genet , vol.45 , pp. 601-605
    • Zneimer, S.M.1    Schneider, N.R.2    Richards, C.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.