메뉴 건너뛰기




Volumn 64, Issue 1, 1996, Pages 50-58

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

Author keywords

mental retardation; X linked; XLMR syndrome; Xp21

Indexed keywords

DNA;

EID: 0030007790     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V     Document Type: Article
Times cited : (32)

References (22)
  • 2
    • 0020793569 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
    • Feinberg AP, Vogelstein B (1983): A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6-13.
    • (1983) Anal Biochem , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 3
    • 0028342840 scopus 로고
    • X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited
    • Gedeon A, Partington M, Mulley J (1994): X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited. Am J Med Genet 51:565-568.
    • (1994) Am J Med Genet , vol.51 , pp. 565-568
    • Gedeon, A.1    Partington, M.2    Mulley, J.3
  • 4
    • 0029951977 scopus 로고    scopus 로고
    • Genetic localization of MRX27 to Xq24-26 defines the sixth discrete gene for nonspecific X-linked mental retardation
    • Gedeon AK, Glass IA, Connor JM, Mullwy JC (1996): Genetic localization of MRX27 to Xq24-26 defines the sixth discrete gene for nonspecific X-linked mental retardation. Am J Med Genet 64: 121-124.
    • (1996) Am J Med Genet , vol.64 , pp. 121-124
    • Gedeon, A.K.1    Glass, I.A.2    Connor, J.M.3    Mullwy, J.C.4
  • 5
    • 0026937998 scopus 로고
    • Expression of four alternate dystrophin transcripts in brain regions regulated by different promoters
    • Gorecki DC, Monaco AP, Deny JM, Walker AP, Barnard EA, Barnard PJ (1992): Expression of four alternate dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1:505-510.
    • (1992) Hum Mol Genet , vol.1 , pp. 505-510
    • Gorecki, D.C.1    Monaco, A.P.2    Deny, J.M.3    Walker, A.P.4    Barnard, E.A.5    Barnard, P.J.6
  • 7
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman EP, Brown RH, Kunkel LM (1987): Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 51: 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 9
    • 0025181885 scopus 로고
    • Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene
    • Klamutt HJ, Gangopadhyay SB, Worton RG, Ray PN (1990): Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol 10: 193-205.
    • (1990) Mol Cell Biol , vol.10 , pp. 193-205
    • Klamutt, H.J.1    Gangopadhyay, S.B.2    Worton, R.G.3    Ray, P.N.4
  • 10
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984): Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 11
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detections of linkage and estimation of recombination
    • Lathtrop GM, Lalouel JM, Julier C, Ott J (1985): Multilocus linkage analysis in humans: Detections of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathtrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 13
    • 0030007791 scopus 로고    scopus 로고
    • Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study
    • Lubs HA, Schwartz CE, Stevenson RE, Arena JF (1996b): Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study. Am J Med Genet 64:169-175.
    • (1996) Am J Med Genet , vol.64 , pp. 169-175
    • Lubs, H.A.1    Schwartz, C.E.2    Stevenson, R.E.3    Arena, J.F.4
  • 14
    • 0021357699 scopus 로고
    • A form of X-linked mental retardation with marfanoid habitus
    • Lujan JE, Carlin ME, Lubs HA (1984): A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 17:311-322.
    • (1984) Am J Med Genet , vol.17 , pp. 311-322
    • Lujan, J.E.1    Carlin, M.E.2    Lubs, H.A.3
  • 15
    • 0025933660 scopus 로고
    • Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure
    • Makover A, Zuk D, Breakstone J, Yaffe D, Nudel U (1991): Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure. Neuromusc Disord 1:39-45.
    • (1991) Neuromusc Disord , vol.1 , pp. 39-45
    • Makover, A.1    Zuk, D.2    Breakstone, J.3    Yaffe, D.4    Nudel, U.5
  • 17
    • 0026792987 scopus 로고
    • Expression of the Duchenne muscular dystrophy gene products in embryonic stem cells and their differentiated derivatives
    • Rapaport D, Fuchs O, Nudel U, Yaffe D (1992): Expression of the Duchenne muscular dystrophy gene products in embryonic stem cells and their differentiated derivatives. J Biol Chem 267: 21289-21292.
    • (1992) J Biol Chem , vol.267 , pp. 21289-21292
    • Rapaport, D.1    Fuchs, O.2    Nudel, U.3    Yaffe, D.4
  • 19
    • 0026629939 scopus 로고
    • Fluorescent multiples linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy
    • Schwartz LS, Tarleton J, Popovich B, Seltzer W, Hoffman EP (1992): Fluorescent multiples linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am J Hum Genet 51: 721-729.
    • (1992) Am J Hum Genet , vol.51 , pp. 721-729
    • Schwartz, L.S.1    Tarleton, J.2    Popovich, B.3    Seltzer, W.4    Hoffman, E.P.5
  • 20
    • 0014607265 scopus 로고
    • Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: Report of a family
    • Phila
    • Snyder RD, Robinson A (1969): Recessive sex-linked mental retardation in the absence of other recognizable abnormalities: Report of a family. Clin Pediatr (Phila) 8:669-674.
    • (1969) Clin Pediatr , vol.8 , pp. 669-674
    • Snyder, R.D.1    Robinson, A.2
  • 21
    • 0026446099 scopus 로고
    • A second-generation linkage map of the human genome
    • Weissenbach J, Gyapay G, Dib C (1992): A second-generation linkage map of the human genome. Nature 359:794-801.
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1    Gyapay, G.2    Dib, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.