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Volumn 10, Issue 1, 2004, Pages 31-41

Phenotypic Variation and FMRP Levels in Fragile X

Author keywords

Anthropomorphic measures; FMRP; Fragile X; IQ; Neurocognitive testing; Pedigree analysis; Physical phenotype

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 1642316414     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/mrdd.20006     Document Type: Review
Times cited : (274)

References (66)
  • 1
    • 0028234805 scopus 로고
    • Molecular-neurobehavioral associations in females with the fragile X full mutation
    • Abrams MT, Reiss AL, Freund LS, et al. 1994. Molecular-neurobehavioral associations in females with the fragile X full mutation. Am J Med Genet 51:317-327.
    • (1994) Am J Med Genet , vol.51 , pp. 317-327
    • Abrams, M.T.1    Reiss, A.L.2    Freund, L.S.3
  • 2
    • 0029953895 scopus 로고    scopus 로고
    • Tissue-specific methylation differences and cognitive function in Fragile X premutation females
    • Allingham Hawkins DJ, Brown CA, Babul R, et al. 1996. Tissue-specific methylation differences and cognitive function in Fragile X premutation females. Am J Med Genet 64:329-333.
    • (1996) Am J Med Genet , vol.64 , pp. 329-333
    • Allingham Hawkins, D.J.1    Brown, C.A.2    Babul, R.3
  • 3
    • 0035321892 scopus 로고    scopus 로고
    • Autistic behavior, FMR1 protein, and developmental trajectories in young males with Fragile X syndrome
    • Bailey DB, Jr., Hatton DD, Skinner M, et al. 2001a. Autistic behavior, FMR1 protein, and developmental trajectories in young males with Fragile X syndrome. J Aut Dev Disorders 31:165-174.
    • (2001) J Aut Dev Disorders , vol.31 , pp. 165-174
    • Bailey Jr., D.B.1    Hatton, D.D.2    Skinner, M.3
  • 4
    • 0035127426 scopus 로고    scopus 로고
    • Variability in FMRP and early development in males with Fragile X syndrome
    • Bailey DB, Jr., Hatton DD, Tassone F, et al. 2001b. Variability in FMRP and early development in males with Fragile X syndrome. Am J Ment Retard 106:16-27.
    • (2001) Am J Ment Retard , vol.106 , pp. 16-27
    • Bailey Jr., D.B.1    Hatton, D.D.2    Tassone, F.3
  • 5
    • 0030638716 scopus 로고    scopus 로고
    • Behavioral inhibition, sustained attention, and executive functions, constructing a unifying theory of Attention Deficit/Hyperactivity Disorder (ADHD)
    • Barkley RA. 1997. Behavioral inhibition, sustained attention, and executive functions, constructing a unifying theory of Attention Deficit/Hyperactivity Disorder (ADHD). Psychol Bull 121:65-94.
    • (1997) Psychol Bull , vol.121 , pp. 65-94
    • Barkley, R.A.1
  • 7
    • 0030986183 scopus 로고    scopus 로고
    • Abnormal dendritic spines in Fragile X knockout mice: Maturation and pruning deficits
    • Comery TA, Harris JB, Willems PJ, et al. 1997. Abnormal dendritic spines in Fragile X knockout mice: Maturation and pruning deficits. Proc Natl Acad Sci USA 94:5401-5404.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 5401-5404
    • Comery, T.A.1    Harris, J.B.2    Willems, P.J.3
  • 8
    • 0030760613 scopus 로고    scopus 로고
    • The Fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes
    • Corbin F, Bouillon M, Fortin A, et al. 1997. The Fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes. Hum Mol Genet 6:1465-1472.
    • (1997) Hum Mol Genet , vol.6 , pp. 1465-1472
    • Corbin, F.1    Bouillon, M.2    Fortin, A.3
  • 9
    • 0031790762 scopus 로고    scopus 로고
    • The nature of the spatial deficit in young females with Fragile-X syndrome: A neuropsychological and molecular perspective
    • Cornish KM, Munir F, Cross G. 1998. The nature of the spatial deficit in young females with Fragile-X syndrome: A neuropsychological and molecular perspective. Neuropsychologia 36:1239-1246.
    • (1998) Neuropsychologia , vol.36 , pp. 1239-1246
    • Cornish, K.M.1    Munir, F.2    Cross, G.3
  • 10
    • 0032951157 scopus 로고    scopus 로고
    • Spatial cognition in males with Fragile-X syndrome: Evidence for a neuropsychological phenotype
    • Cornish KM, Munir F, Cross G. 1999. Spatial cognition in males with Fragile-X syndrome: Evidence for a neuropsychological phenotype. Cortex 35:263-271.
    • (1999) Cortex , vol.35 , pp. 263-271
    • Cornish, K.M.1    Munir, F.2    Cross, G.3
  • 11
    • 0035141047 scopus 로고    scopus 로고
    • Differential impact of the FMR-1 full mutation on memory and attention functioning: A neuropsychological perspective
    • Cornish KM, Munir F, Cross G. 2001. Differential impact of the FMR-1 full mutation on memory and attention functioning: A neuropsychological perspective. J Cogn Neurosci 13:144-150.
    • (2001) J Cogn Neurosci , vol.13 , pp. 144-150
    • Cornish, K.M.1    Munir, F.2    Cross, G.3
  • 12
    • 0025174057 scopus 로고
    • Neuropsychological dimensions of the Fragile X syndrome: Support for a nondominant hemisphere dysfunction hypothesis
    • Crowe SF, Hay DA. 1990. Neuropsychological dimensions of the Fragile X syndrome: support for a nondominant hemisphere dysfunction hypothesis. Neuropsychologia 28:9-16.
    • (1990) Neuropsychologia , vol.28 , pp. 9-16
    • Crowe, S.F.1    Hay, D.A.2
  • 13
    • 19144366486 scopus 로고    scopus 로고
    • Mental status of females with an FMR1 gene full mutation
    • de Vries BB, Wiegers AM, Smits AP, et al. 1996. Mental status of females with an FMR1 gene full mutation. Am J Med Genet 58:1025-1032.
    • (1996) Am J Med Genet , vol.58 , pp. 1025-1032
    • De Vries, B.B.1    Wiegers, A.M.2    Smits, A.P.3
  • 14
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a Fragile X premutation
    • Devys D, Lutz Y, Rouyer N, et al. 1993. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a Fragile X premutation. Nat Genet 4:335-340.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3
  • 15
    • 0030015140 scopus 로고    scopus 로고
    • Tissue differences in Fragile X mosaics: Mosaicism in blood cells may differ greatly from skin
    • Dobkin CS, Nolin SL, Cohen I, et al. 1996. Tissue differences in Fragile X mosaics: Mosaicism in blood cells may differ greatly from skin. Am J Med Genet 64:296-301.
    • (1996) Am J Med Genet , vol.64 , pp. 296-301
    • Dobkin, C.S.1    Nolin, S.L.2    Cohen, I.3
  • 16
    • 0036514351 scopus 로고    scopus 로고
    • Genetic and environmental influences on the cognitive outcomes of children with Fragile X syndrome
    • Dyer-Friedman J, Glaser B, Hessl D, et al. 2002. Genetic and environmental influences on the cognitive outcomes of children with Fragile X syndrome. J Am Acad Child Adolesc Psychiat 41:237-244.
    • (2002) J Am Acad Child Adolesc Psychiat , vol.41 , pp. 237-244
    • Dyer-Friedman, J.1    Glaser, B.2    Hessl, D.3
  • 17
    • 0025974956 scopus 로고
    • Cognitive profiles associated with the fra(X) syndrome in males and females
    • Freund LS, Reiss AL. 1991. Cognitive profiles associated with the fra(X) syndrome in males and females. Am J Med Genet 38:542-547.
    • (1991) Am J Med Genet , vol.38 , pp. 542-547
    • Freund, L.S.1    Reiss, A.L.2
  • 19
    • 0032012318 scopus 로고    scopus 로고
    • Fragile X Syndrome: Clinical, electroencephalographic, and neuroimaging characteristics
    • Guerreiro MM, Camargo EE, Kato M, et al. 1998. Fragile X Syndrome: Clinical, electroencephalographic, and neuroimaging characteristics. Ar Qneuropsiquiatr 56:18-23.
    • (1998) Ar Qneuropsiquiatr , vol.56 , pp. 18-23
    • Guerreiro, M.M.1    Camargo, E.E.2    Kato, M.3
  • 20
    • 0036591683 scopus 로고    scopus 로고
    • The Fragile X premutation: Into the phenotypic fold
    • Hagerman RJ, Hagerman PJ. 2002. The Fragile X premutation: Into the phenotypic fold. Curr Opin Genet Dev 12:278-283.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 278-283
    • Hagerman, R.J.1    Hagerman, P.J.2
  • 21
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of Fragile X
    • Hagerman RJ, Leehey M, Heinrichs W, et al. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of Fragile X. Neurology 57:127-130.
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 23
    • 0035511650 scopus 로고    scopus 로고
    • The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with Fragile X syndrome
    • electronic e88
    • Hessl D, Dyer-Friedman J, Glaser B, et al. 2001. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with Fragile X syndrome. Pediatrics 108:electronic e88.
    • (2001) Pediatrics , vol.108
    • Hessl, D.1    Dyer-Friedman, J.2    Glaser, B.3
  • 24
    • 0027397928 scopus 로고
    • Tissue specific expression of FMR-1 provides evidence for a functional role in Fragile X syndrome
    • Hinds HL, Ashley CT, Sutcliffe JS, et al. 1993. Tissue specific expression of FMR-1 provides evidence for a functional role in Fragile X syndrome [see comments] [published erratum appears in Nat Genet 1993 Nov,5(3):312]. Nat Genet 3:36-43.
    • (1993) Nat Genet , vol.3 , pp. 36-43
    • Hinds, H.L.1    Ashley, C.T.2    Sutcliffe, J.S.3
  • 25
    • 84966182069 scopus 로고
    • published erratum appears. Nov
    • Hinds HL, Ashley CT, Sutcliffe JS, et al. 1993. Tissue specific expression of FMR-1 provides evidence for a functional role in Fragile X syndrome [see comments] [published erratum appears in Nat Genet 1993 Nov,5(3):312]. Nat Genet 3:36-43.
    • (1993) Nat Genet , vol.5 , Issue.3 , pp. 312
    • Huggins, R.M.1
  • 26
    • 84990493873 scopus 로고
    • On the robust analysis of pedigree data
    • Huggins RM. 1993. On the robust analysis of pedigree data. Austr J Statistics 35:43-57.
    • (1993) Austr J Statistics , vol.35 , pp. 43-57
  • 27
    • 0003140949 scopus 로고    scopus 로고
    • Brain Structure and functions of FMR1 protein
    • Hagerman RJ, Hagerman PJ, editors. Baltimore: The Johns Hopkins University Press
    • Irwin SA, Galvez R, Weiler IJ, et al. 2002. Brain Structure and functions of FMR1 protein. In Hagerman RJ, Hagerman PJ, editors. Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd ed. Baltimore: The Johns Hopkins University Press, pp.191-205
    • (2002) Fragile X Syndrome: Diagnosis, Treatment and Research, 3rd Ed. , pp. 191-205
    • Irwin, S.A.1    Galvez, R.2    Weiler, I.J.3
  • 28
    • 0037384643 scopus 로고    scopus 로고
    • Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and meuroimaging correlates
    • Jacquemont S, Hagerman RJ, Leehey M, et al. 2003. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and meuroimaging correlates. Am J Hum Genet 72:869-878.
    • (2003) Am J Hum Genet , vol.72 , pp. 869-878
    • Jacquemont, S.1    Hagerman, R.J.2    Leehey, M.3
  • 29
    • 0033515679 scopus 로고    scopus 로고
    • Genotype, molecular phenotype, and cognitive phenotype: Correlations in Fragile X syndrome
    • Kaufmann WE, Abrams MT, Chen W, et al. 1999. Genotype, molecular phenotype, and cognitive phenotype: correlations in Fragile X syndrome. Am J Med Genet 83:286-295.
    • (1999) Am J Med Genet , vol.83 , pp. 286-295
    • Kaufmann, W.E.1    Abrams, M.T.2    Chen, W.3
  • 30
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson A, Zhang F, Hagedorn CH, et al. 2001. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10:1449-1454.
    • (2001) Hum Mol Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3
  • 31
    • 0034936795 scopus 로고    scopus 로고
    • Functional neuroanatomy of visuospatial working memory in Fragile X syndrome: Relation to behavioral and molecular measures
    • Kwon H, Menon V, Eliez S, et al. 2001. Functional neuroanatomy of visuospatial working memory in Fragile X syndrome: Relation to behavioral and molecular measures. Am J Psychiat 158:1040-1051.
    • (2001) Am J Psychiat , vol.158 , pp. 1040-1051
    • Kwon, H.1    Menon, V.2    Eliez, S.3
  • 32
    • 0012287973 scopus 로고
    • Extensions to pedigree analysis. III. Variance components by the scoring method
    • Lange K, Westlake J, Spence MA. 1976. Extensions to pedigree analysis. III. Variance components by the scoring method. Ann Hum Genet 50:385-398.
    • (1976) Ann Hum Genet , vol.50 , pp. 385-398
    • Lange, K.1    Westlake, J.2    Spence, M.A.3
  • 33
    • 1542427460 scopus 로고    scopus 로고
    • Nonparametric function estimation for clustered data when the predictor is measured with/without error
    • Lin X, Carroll RJ. 2000. Nonparametric function estimation for clustered data when the predictor is measured with/without error. J Am Stat Assoc 95:520-534.
    • (2000) J Am Stat Assoc , vol.95 , pp. 520-534
    • Lin, X.1    Carroll, R.J.2
  • 34
    • 0041317041 scopus 로고    scopus 로고
    • Effect of the Fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis
    • Loesch D, Huggins R, Bui QM, et al. 2003a. Effect of the Fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. Am J Med Gen 22:13-23.
    • (2003) Am J Med Gen , vol.22 , pp. 13-23
    • Loesch, D.1    Huggins, R.2    Bui, Q.M.3
  • 35
    • 0242467602 scopus 로고    scopus 로고
    • Effect of the Fragile X status categories and the FMRP levels on executive functioning in Fragile X males and females
    • Loesch DZ, Bui QM, Grigsby J, et al. 2003b. Effect of the Fragile X status categories and the FMRP levels on executive functioning in Fragile X males and females. Neuropsychology 17(4):646-657.
    • (2003) Neuropsychology , vol.17 , Issue.4 , pp. 646-657
    • Loesch, D.Z.1    Bui, Q.M.2    Grigsby, J.3
  • 36
    • 0027361706 scopus 로고
    • Genotype-phenotype relationships in Fragile X syndrome: A family study
    • Loesch DZ, Huggins R, Hay DA, et al. 1993. Genotype-phenotype relationships in Fragile X syndrome: a family study. Am J Hum Genet 53:1064-1073.
    • (1993) Am J Hum Genet , vol.53 , pp. 1064-1073
    • Loesch, D.Z.1    Huggins, R.2    Hay, D.A.3
  • 37
    • 0036927063 scopus 로고    scopus 로고
    • Effect of the deficits of Fragile x mental retardation protein on cognitive status of Fragile x males and females assessed by robust pedigree analysis
    • Loesch DZ, Huggins RM, Bui QM, et al. 2002a. Effect of the deficits of Fragile x mental retardation protein on cognitive status of Fragile x males and females assessed by robust pedigree analysis. J Dev Behav Pediatr 23:416-423.
    • (2002) J Dev Behav Pediatr , vol.23 , pp. 416-423
    • Loesch, D.Z.1    Huggins, R.M.2    Bui, Q.M.3
  • 38
    • 0038162524 scopus 로고    scopus 로고
    • Relationship of deficits of FMR1 gene specific protein with physical phenotype of Fragile X males and females in pedigrees: A new perspective
    • Loesch DZ, Huggins RM, Bui QM, et al. 2003c. Relationship of deficits of FMR1 gene specific protein with physical phenotype of Fragile X males and females in pedigrees: A new perspective. Am J Med Genet 118A:127-134.
    • (2003) Am J Med Genet , vol.118 A , pp. 127-134
    • Loesch, D.Z.1    Huggins, R.M.2    Bui, Q.M.3
  • 39
    • 0029160737 scopus 로고
    • Growth in stature in Fragile X families: A mixed longitudinal study
    • Loesch DZ, Huggins RM, Hoang NH. 1995. Growth in stature in Fragile X families: a mixed longitudinal study. Am J Med Genet 58:249-256.
    • (1995) Am J Med Genet , vol.58 , pp. 249-256
    • Loesch, D.Z.1    Huggins, R.M.2    Hoang, N.H.3
  • 40
    • 0037079905 scopus 로고    scopus 로고
    • Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in Fragile X syndrome
    • Loesch DZ, Huggins RM, Taylor AK. 2002b. Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in Fragile X syndrome. Am J Med Genet 107:136-42.
    • (2002) Am J Med Genet , vol.107 , pp. 136-142
    • Loesch, D.Z.1    Huggins, R.M.2    Taylor, A.K.3
  • 42
    • 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, et al. 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
  • 44
    • 0036267127 scopus 로고    scopus 로고
    • Prefrontal cortex involvement in processing incorrect arithmetic equations: Evidence from event-related fMRI
    • Menon V, Mackenzie K, Rivera SM, et al. 2002. Prefrontal cortex involvement in processing incorrect arithmetic equations: evidence from event-related fMRI. Hum Brain Mapp 16:119-130.
    • (2002) Hum Brain Mapp , vol.16 , pp. 119-130
    • Menon, V.1    Mackenzie, K.2    Rivera, S.M.3
  • 46
    • 0036197452 scopus 로고    scopus 로고
    • Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse
    • Mineur YS, Sluyter F, de Wit S, et al. 2002. Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse. Hippocampus 12:39-46.
    • (2002) Hippocampus , vol.12 , pp. 39-46
    • Mineur, Y.S.1    Sluyter, F.2    De Wit, S.3
  • 47
    • 0006344963 scopus 로고    scopus 로고
    • Patterns of attention deficit in Fragile X syndrome: A neuropsychological perspective
    • Paper presented. Ashville, USA
    • Munir F, Cornish KM, Wilding J. 1998. Patterns of attention deficit in Fragile X syndrome: a neuropsychological perspective. Paper presented at Sixth International Fragile X Syndrome Conference. Ashville, USA
    • (1998) Sixth International Fragile X Syndrome Conference
    • Munir, F.1    Cornish, K.M.2    Wilding, J.3
  • 48
    • 0034256980 scopus 로고    scopus 로고
    • A neuropsychological profile of attention deficits in young males with Fragile X syndrome
    • Munir F, Cornish KM, Wilding J. 2000. A neuropsychological profile of attention deficits in young males with Fragile X syndrome. Neuropsychologia 38:1261-1270.
    • (2000) Neuropsychologia , vol.38 , pp. 1261-1270
    • Munir, F.1    Cornish, K.M.2    Wilding, J.3
  • 49
    • 0021328555 scopus 로고
    • Discovery of a connective tissue dysplasia in the Martin-Bell syndrome
    • Opitz JM, Westphal JM, Daniel A. 1984. Discovery of a connective tissue dysplasia in the Martin-Bell syndrome. Am J Med Genet 17:101-109.
    • (1984) Am J Med Genet , vol.17 , pp. 101-109
    • Opitz, J.M.1    Westphal, J.M.2    Daniel, A.3
  • 50
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in Fragile X syndrome
    • Pieretti M, Zhang FP, Fu YH, et al. 1991. Absence of expression of the FMR-1 gene in Fragile X syndrome. Cell 66:817-822.
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.P.2    Fu, Y.H.3
  • 51
  • 53
    • 0036320991 scopus 로고    scopus 로고
    • Functional brain activation during arithmetic processing in females with fragile X syndrome is related to FMR1 protein expression
    • Rivera SM, Menon V, White CD, et al. 2002. Functional brain activation during arithmetic processing in females with fragile X syndrome is related to FMR1 protein expression. Human Brain Mapping 16:206-218.
    • (2002) Human Brain Mapping , vol.16 , pp. 206-218
    • Rivera, S.M.1    Menon, V.2    White, C.D.3
  • 55
    • 0029896683 scopus 로고    scopus 로고
    • Molecular-clinical correlations in females with Fragile X
    • Sobesky WE, Taylor AK, Pennington BF, et al. 1996. Molecular-clinical correlations in females with Fragile X. Am J Med Genet 64:340-345.
    • (1996) Am J Med Genet , vol.64 , pp. 340-345
    • Sobesky, W.E.1    Taylor, A.K.2    Pennington, B.F.3
  • 56
    • 0026741085 scopus 로고
    • Expressive semantic deficit in the productive language of males with Fragile X syndrome
    • Sudhalter V, Maranion M, Brooks P. 1992. Expressive semantic deficit in the productive language of males with Fragile X syndrome. Am J Med Genet 43:65-71.
    • (1992) Am J Med Genet , vol.43 , pp. 65-71
    • Sudhalter, V.1    Maranion, M.2    Brooks, P.3
  • 57
    • 0033612144 scopus 로고    scopus 로고
    • FMRP expression as a potential prognostic indicator in Fragile X syndrome
    • Tassone F, Hagerman RJ, Iklé DN, et al. 1999. FMRP expression as a potential prognostic indicator in Fragile X syndrome. Am J Med Genet 84:250-261.
    • (1999) Am J Med Genet , vol.84 , pp. 250-261
    • Tassone, F.1    Hagerman, R.J.2    Iklé, D.N.3
  • 58
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in Fragile X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, et al. 2000a. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in Fragile X syndrome. Am J Hum Genet 66:6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3
  • 59
    • 0034016083 scopus 로고    scopus 로고
    • Clinical involvement and protein expression in individuals with the FMR1 premutation
    • Tassone F, Hagerman RJ, Taylor AK, et al. 2000b. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 91:144-152.
    • (2000) Am J Med Genet , vol.91 , pp. 144-152
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3
  • 60
    • 84942951309 scopus 로고
    • Molecular predictors of cognitive involvement in female carriers of Fragile X syndrome
    • Taylor AK, Safanda JF, Fall MZ, et al. 1994. Molecular predictors of cognitive involvement in female carriers of Fragile X syndrome. J Am Med Assoc 271:507-514.
    • (1994) J Am Med Assoc , vol.271 , pp. 507-514
    • Taylor, A.K.1    Safanda, J.F.2    Fall, M.Z.3
  • 62
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, et al. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell 65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 63
    • 0033515497 scopus 로고    scopus 로고
    • Synaptic synthesis of the Fragile X protein: Possible involvement in synapse maturation and elimination
    • Weiler IJ, Greenough WT. 1999. Synaptic synthesis of the Fragile X protein: possible involvement in synapse maturation and elimination. Am J Med Genet 83:248-252.
    • (1999) Am J Med Genet , vol.83 , pp. 248-252
    • Weiler, I.J.1    Greenough, W.T.2
  • 64
    • 0345528532 scopus 로고    scopus 로고
    • Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
    • Weiler IJ, Irwin SA, Klintsova AY, et al. 1997. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 94:5395-5400.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 5395-5400
    • Weiler, I.J.1    Irwin, S.A.2    Klintsova, A.Y.3
  • 65
    • 0029028295 scopus 로고
    • Rapid antibody test for Fragile X syndrome
    • Willemsen R, Mohkamsing S, de Vries B, et al. 1995. Rapid antibody test for Fragile X syndrome. Lancet 345:1147-1148.
    • (1995) Lancet , vol.345 , pp. 1147-1148
    • Willemsen, R.1    Mohkamsing, S.2    De Vries, B.3
  • 66
    • 0037900879 scopus 로고    scopus 로고
    • Predictive testing for cognitive functioning in female carriers of the Fragile X syndrome using hair root analysis
    • Willemsen R, Smits A, Severijnen L-A, et al. 2003. Predictive testing for cognitive functioning in female carriers of the Fragile X syndrome using hair root analysis. J Med Genet 40:377-379.
    • (2003) J Med Genet , vol.40 , pp. 377-379
    • Willemsen, R.1    Smits, A.2    Severijnen, L.-A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.