메뉴 건너뛰기




Volumn 84, Issue 3, 1999, Pages 245-249

Postmortem examination of two fragile X brothers with an FMR1 full mutation

Author keywords

CGG repeat; Dynamic mutation; FMR1; Fragile X syndrome; Pathology; Somatic mosaicism

Indexed keywords

CYTOSINE; GUANINE; NUCLEOTIDE;

EID: 0033612150     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990528)84:3<245::AID-AJMG16>3.0.CO;2-U     Document Type: Article
Times cited : (57)

References (37)
  • 1
    • 0029554478 scopus 로고
    • Quantitative brain imaging studies of fragile X syndrome
    • Abrams MT, Reiss AL. 1995. Quantitative brain imaging studies of fragile X syndrome. Dev Brain Dysfunct 8:187-198.
    • (1995) Dev Brain Dysfunct , vol.8 , pp. 187-198
    • Abrams, M.T.1    Reiss, A.L.2
  • 2
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Åhlberg G, Grandell U, Hedberg B, Johnson K, Edström L. 1993. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2:1397-1400.
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Åhlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edström, L.6
  • 3
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY. 1995. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet 10:344-350.
    • (1995) Nat Genet , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3    Subramony, S.H.4    Orr, H.T.5    Hughes, M.R.6    Zoghbi, H.Y.7
  • 6
    • 0026751517 scopus 로고
    • Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
    • Devys D, Biancalana V, Rousseau F, Boué, J, Mandel JL, Oberlé I. 1992. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet 43:208-216.
    • (1992) Am J Med Genet , vol.43 , pp. 208-216
    • Devys, D.1    Biancalana, V.2    Rousseau, F.3    Boué, J.4    Mandel, J.L.5    Oberlé, I.6
  • 8
    • 0001966753 scopus 로고    scopus 로고
    • Physical and behavioral phenotype
    • Hagerman RJ, Cronister A, editors. Baltimore: Johns Hopkins University Press
    • Hagerman RJ. 1996. Physical and behavioral phenotype. In: Hagerman RJ, Cronister A, editors. Fragile X syndrome: diagnosis, treatment, and research. Baltimore: Johns Hopkins University Press. p 3-87.
    • (1996) Fragile X Syndrome: Diagnosis, Treatment, and Research , pp. 3-87
    • Hagerman, R.J.1
  • 11
    • 0009472824 scopus 로고    scopus 로고
    • The fragile X syndrome and other fragile site disorders
    • Oostra BA, editor. Berlin-Heidelberg: Springer-Verlag. In press
    • Kooy RF, Oostra BA, Willems PJ. 1998. The fragile X syndrome and other fragile site disorders. In Oostra BA, editor. Trinucleotide diseases and instability. Berlin-Heidelberg: Springer-Verlag. In press.
    • (1998) Trinucleotide Diseases and Instability
    • Kooy, R.F.1    Oostra, B.A.2    Willems, P.J.3
  • 13
    • 0029906262 scopus 로고    scopus 로고
    • A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood
    • Maddalena A, Yadvish KN, Spence WC, Howard-Peebles PN. 1996. A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood. Am J Med Genet 64:309-312.
    • (1996) Am J Med Genet , vol.64 , pp. 309-312
    • Maddalena, A.1    Yadvish, K.N.2    Spence, W.C.3    Howard-Peebles, P.N.4
  • 15
    • 0031882461 scopus 로고    scopus 로고
    • Decreased cerebellar posterior vermis size in fragile X syndrome. Correlation with neurocognitive performance
    • Mostofsky S, Mazzocco MMM, Aakalu G, Warsofsky LS, Denckla MB, Reiss AL. 1998. Decreased cerebellar posterior vermis size in fragile X syndrome. Correlation with neurocognitive performance. Neurology 50: 121-130.
    • (1998) Neurology , vol.50 , pp. 121-130
    • Mostofsky, S.1    Mazzocco, M.M.M.2    Aakalu, G.3    Warsofsky, L.S.4    Denckla, M.B.5    Reiss, A.L.6
  • 16
    • 0030833799 scopus 로고    scopus 로고
    • Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic
    • Moutou C, Vincent M-C, Biancalana V, Mandel J-L. 1997. Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic. Hum Mol Genet 6:971-979.
    • (1997) Hum Mol Genet , vol.6 , pp. 971-979
    • Moutou, C.1    Vincent, M.-C.2    Biancalana, V.3    Mandel, J.-L.4
  • 20
  • 21
    • 0023737463 scopus 로고
    • Neuroanatomical variations of the posterior fossa in men with the fragile X (Martin-Bell) syndrome
    • Reiss AL, Patel S, Kumar AJ, Freund L. 1988. Neuroanatomical variations of the posterior fossa in men with the fragile X (Martin-Bell) syndrome. Am J Med Genet 31:407-414.
    • (1988) Am J Med Genet , vol.31 , pp. 407-414
    • Reiss, A.L.1    Patel, S.2    Kumar, A.J.3    Freund, L.4
  • 31
  • 32
  • 33
    • 0027310525 scopus 로고
    • Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
    • Wöhrle D, Hennig I, Vogel W, Steinbach P. 1993. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet 4:140-142.
    • (1993) Nat Genet , vol.4 , pp. 140-142
    • Wöhrle, D.1    Hennig, I.2    Vogel, W.3    Steinbach, P.4
  • 35
    • 0029019623 scopus 로고
    • Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability
    • Wöhrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P. 1995. Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum Mol Genet 4:1147-1153.
    • (1995) Hum Mol Genet , vol.4 , pp. 1147-1153
    • Wöhrle, D.1    Kennerknecht, I.2    Wolf, M.3    Enders, H.4    Schwemmle, S.5    Steinbach, P.6
  • 36
    • 0030576353 scopus 로고    scopus 로고
    • DNA methylation and triplet repeat stability: New proposals addressing actual questions on the CGG repeat of fragile X syndrome
    • Wöhrle D, Schwemmle S, Steinbach P. 1996. DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome. Am J Med Genet 64:266-267.
    • (1996) Am J Med Genet , vol.64 , pp. 266-267
    • Wöhrle, D.1    Schwemmle, S.2    Steinbach, P.3
  • 37
    • 0028912550 scopus 로고
    • Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: When does the expansion occur?
    • Zatz M, Passos-Bueno MR, Cerqueira A, Marie SK, Vainzof M, Pavanello RCM. 1995. Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum Mol Genet 4:401-406.
    • (1995) Hum Mol Genet , vol.4 , pp. 401-406
    • Zatz, M.1    Passos-Bueno, M.R.2    Cerqueira, A.3    Marie, S.K.4    Vainzof, M.5    Pavanello, R.C.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.