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Volumn 4, Issue 2, 1997, Pages 60-94

Screening for fragile X syndrome: Information needs for health planners

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X SYNDROME; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HEALTH CARE COST; HEALTH CARE PLANNING; HUMAN; PHENOTYPE; REVIEW;

EID: 0031395376     PISSN: 09691413     EISSN: None     Source Type: Journal    
DOI: 10.1177/096914139700400204     Document Type: Review
Times cited : (33)

References (301)
  • 2
  • 3
    • 0001966753 scopus 로고
    • Physical and behavioural phenotype
    • Hagerman RJ, Silverman AC, eds. Baltimore: Johns Hopkins University Press
    • Hagerman RJ. Physical and behavioural phenotype. In: Hagerman RJ, Silverman AC, eds. Fragile X syndrome: diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 1991:3-69.
    • (1991) Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 3-69
    • Hagerman, R.J.1
  • 4
    • 0021329192 scopus 로고
    • The fragile X syndrome II: Preliminary data on growth and development in males
    • Partington MW. The fragile X syndrome II: preliminary data on growth and development in males. Am J Med Genet 1984;17:175-94.
    • (1984) Am J Med Genet , vol.17 , pp. 175-194
    • Partington, M.W.1
  • 7
  • 8
    • 34548005717 scopus 로고
    • Concomintant strabismus
    • Taylor D, ed. Oxford: Blackwell
    • Elston J. Concomintant strabismus. In: Taylor D, ed. Pediatric ophthalmology. Oxford: Blackwell, 1989:613-33.
    • (1989) Pediatric Ophthalmology , pp. 613-633
    • Elston, J.1
  • 10
    • 0021863795 scopus 로고
    • The fragile X syndrome (Martin-Bell syndrome): Clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their families
    • Schinzel A, Largo RH. The fragile X syndrome (Martin-Bell syndrome): clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their families. Helvetic Pediatrica Acta 1985;40:133-52.
    • (1985) Helvetic Pediatrica Acta , vol.40 , pp. 133-152
    • Schinzel, A.1    Largo, R.H.2
  • 11
    • 0023218125 scopus 로고
    • Ophthlamologic findings in the fragile X syndrome
    • Storm RL, Pebenito R, Ferretti C. Ophthlamologic findings in the fragile X syndrome. Arch Ophthalmol 1987;105: 1099-102.
    • (1987) Arch Ophthalmol , vol.105 , pp. 1099-1102
    • Storm, R.L.1    Pebenito, R.2    Ferretti, C.3
  • 14
    • 0019889328 scopus 로고
    • Macro-orchidism, mental retardation and the fragile X
    • Brøndum Nielson K, Tommerup N, Dyggve H, Schou C. Macro-orchidism, mental retardation and the fragile X [letter]. N Engl J Med 1981;305:1348.
    • (1981) N Engl J Med , vol.305 , pp. 1348
    • Brøndum, N.K.1    Tommerup, N.2    Dyggve, H.3    Schou, C.4
  • 15
    • 0019968221 scopus 로고
    • Macro-orchidism and fragile X mentally retarded males
    • Brøndum Nielson K, Tommerup N, Dyggve H, Schou C. Macro-orchidism and fragile X mentally retarded males. Hum Genet 1982;61:113-17.
    • (1982) Hum Genet , vol.61 , pp. 113-117
    • Brøndum, N.K.1    Tommerup, N.2    Dyggve, H.3    Schou, C.4
  • 18
    • 0022595505 scopus 로고
    • Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes
    • Simpson NE. Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes. Am J Med Genet 1986;23:171-8.
    • (1986) Am J Med Genet , vol.23 , pp. 171-178
    • Simpson, N.E.1
  • 19
    • 0029117990 scopus 로고
    • General overgrowth in the fragile X syndrome: Variability in the phenotypic expression of the FMR1 mutation
    • de Vries BBA, Robinson H, Stolte-Dijkstra I, et al. General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 mutation. J Med Genet 1995;32:764-9.
    • (1995) J Med Genet , vol.32 , pp. 764-769
    • De Vries, B.B.A.1    Robinson, H.2    Stolte-Dijkstra, I.3
  • 20
    • 0029160737 scopus 로고
    • Growth in stature in fragile-X families - A mixed longitudinal-study
    • Loesch DZ, Huggins RM, Hoang NH. Growth in stature in fragile-X families - a mixed longitudinal-study. Am J Med Genet 1995;58:249-56.
    • (1995) Am J Med Genet , vol.58 , pp. 249-256
    • Loesch, D.Z.1    Huggins, R.M.2    Hoang, N.H.3
  • 22
    • 0022617467 scopus 로고
    • Aortic root dilatation and mitral-valve prolapse in the fragile-X syndrome
    • Loehr JP, Synhorst DP, Wolfe RR, Hagerman RJ. Aortic root dilatation and mitral-valve prolapse in the fragile-X syndrome. Am J Med Genet 1986;23:189-94.
    • (1986) Am J Med Genet , vol.23 , pp. 189-194
    • Loehr, J.P.1    Synhorst, D.P.2    Wolfe, R.R.3    Hagerman, R.J.4
  • 24
    • 0021091928 scopus 로고
    • Diagnosis of the fragile X syndrome (Martin-Bell syndrome): Clinical findings in 27 males with the fragile site at Xq28
    • Brondum Nielsen K, Tommerup N, Friis B, Hjelt K, Hippe E. Diagnosis of the fragile X syndrome (Martin-Bell syndrome): clinical findings in 27 males with the fragile site at Xq28. Journal of Mental Deficiency Research 1983;27: 211-22.
    • (1983) Journal of Mental Deficiency Research , vol.27 , pp. 211-222
    • Brondum Nielsen, K.1    Tommerup, N.2    Friis, B.3    Hjelt, K.4    Hippe, E.5
  • 27
    • 0024603661 scopus 로고
    • Clinico-neurological investigations in the fraX form of mental retardation
    • Vieregge P, Froster-Iskenius U. Clinico-neurological investigations in the fraX form of mental retardation. J Neurol 1989;236:85-92.
    • (1989) J Neurol , vol.236 , pp. 85-92
    • Vieregge, P.1    Froster-Iskenius, U.2
  • 28
    • 0028295792 scopus 로고
    • Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome
    • Maes B, Fryns JP, Van Walleghem M, Van den Berghe H. Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome. Am J Med Genet 1994;50:190-200.
    • (1994) Am J Med Genet , vol.50 , pp. 190-200
    • Maes, B.1    Fryns, J.P.2    Van Walleghem, M.3    Van Den Berghe, H.4
  • 29
    • 0028141919 scopus 로고
    • A multicenter study on genotype-phenorype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases
    • Rousseau F, Heitz D, Tarleton J, et al. A multicenter study on genotype-phenorype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 1994;55:225-37.
    • (1994) Am J Hum Genet , vol.55 , pp. 225-237
    • Rousseau, F.1    Heitz, D.2    Tarleton, J.3
  • 30
    • 84942951309 scopus 로고
    • Molecular predictors of cognitive involvement in female carriers of fragile X syndrome
    • Taylor AK, Safanda JF, Fall MZ, et al. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA 1994;271:507-14.
    • (1994) JAMA , vol.271 , pp. 507-514
    • Taylor, A.K.1    Safanda, J.F.2    Fall, M.Z.3
  • 31
    • 0026008491 scopus 로고
    • Relationship between age and IQ among fragile X males: A multicenter study
    • Fisch GS, Arinami T, Froster-Iskenius U, et al. Relationship between age and IQ among fragile X males: a multicenter study. Am J Med Genet 1991;38:481-7.
    • (1991) Am J Med Genet , vol.38 , pp. 481-487
    • Fisch, G.S.1    Arinami, T.2    Froster-Iskenius, U.3
  • 35
    • 0028360992 scopus 로고
    • Does IQ decline with age in fragile-X? a methodological critique
    • Hay DA. Does IQ decline with age in fragile-X? A methodological critique. Am J Med Genet 1994;51:358-63.
    • (1994) Am J Med Genet , vol.51 , pp. 358-363
    • Hay, D.A.1
  • 36
    • 0027160981 scopus 로고
    • What is associated with the fragile X syndrome?
    • Fisch GS. What is associated with the fragile X syndrome? [review]. Am J Med Genet 1993;48:112-21.
    • (1993) Am J Med Genet , vol.48 , pp. 112-121
    • Fisch, G.S.1
  • 37
    • 0026709012 scopus 로고
    • Behavior phenotype of the fragile X syndrome
    • Einfeld S, Hall S. Behavior phenotype of the fragile X syndrome. Am J Med Genet 1992;43:56-60.
    • (1992) Am J Med Genet , vol.43 , pp. 56-60
    • Einfeld, S.1    Hall, S.2
  • 38
    • 0025974956 scopus 로고
    • Cognitive profiles associated with the fra(X) syndrome in males and females
    • Freund LS, Reiss AL. Cognitive profiles associated with the fra(X) syndrome in males and females. Am J Med Genet 1991;38:542-7.
    • (1991) Am J Med Genet , vol.38 , pp. 542-547
    • Freund, L.S.1    Reiss, A.L.2
  • 40
    • 0025166605 scopus 로고
    • Conversational analyses of males with fragile X, Down syndrome and autism: Comparison of the evergence of deviant language
    • Sudhalter V, Cohen IL, Silverman W, Wolf-Schein EG. Conversational analyses of males with fragile X, Down syndrome and autism: comparison of the evergence of deviant language. Am J Ment Retard 1990;94:431-41.
    • (1990) Am J Ment Retard , vol.94 , pp. 431-441
    • Sudhalter, V.1    Cohen, I.L.2    Silverman, W.3    Wolf-Schein, E.G.4
  • 41
    • 0026741085 scopus 로고
    • Expressive semantic deficit in the productive language of males with fragile X syndrome
    • Sudhalter V, Maranion M, Brooks P. Expressive semantic deficit in the productive language of males with fragile X syndrome. Am J Med Genet 1992;43:65-71.
    • (1992) Am J Med Genet , vol.43 , pp. 65-71
    • Sudhalter, V.1    Maranion, M.2    Brooks, P.3
  • 45
    • 0020477965 scopus 로고
    • Association of fragile X syndrome with autism
    • Brown WT, Friedman E, Jenkins EC, et al. Association of fragile X syndrome with autism [letter]. Lancet. 1982;i: 100.
    • (1982) Lancet. , vol.1 , pp. 100
    • Brown, W.T.1    Friedman, E.2    Jenkins, E.C.3
  • 48
    • 0024420299 scopus 로고
    • Autism is not associated with the fragile X syndrome
    • Einfeld S, Molony H, Hall W. Autism is not associated with the fragile X syndrome. Am J Med Genet 1989;34:187-93.
    • (1989) Am J Med Genet , vol.34 , pp. 187-193
    • Einfeld, S.1    Molony, H.2    Hall, W.3
  • 49
    • 0026653163 scopus 로고
    • Is autism associated with the fragile X syndrome?
    • Fisch GS. Is autism associated with the fragile X syndrome? Am J Med Genet 1992;43:47-55.
    • (1992) Am J Med Genet , vol.43 , pp. 47-55
    • Fisch, G.S.1
  • 50
    • 0028342838 scopus 로고
    • Behavioural and emotional disturbance in fragile X syndrome
    • Einfeld SL, Tonge BJ, Florio T. Behavioural and emotional disturbance in fragile X syndrome. Am J Med Genet 1994; 51:386-91.
    • (1994) Am J Med Genet , vol.51 , pp. 386-391
    • Einfeld, S.L.1    Tonge, B.J.2    Florio, T.3
  • 51
    • 0029586063 scopus 로고
    • Adult fragile X syndrome: Neuropsychology, brain anatomy and metabolism
    • Schapiro MB, Murphy DGM, Hagerman RJ, et al. Adult fragile X syndrome: neuropsychology, brain anatomy and metabolism. Am J Med Genet 1995;60:480-93.
    • (1995) Am J Med Genet , vol.60 , pp. 480-493
    • Schapiro, M.B.1    Murphy, D.G.M.2    Hagerman, R.J.3
  • 52
    • 0024306238 scopus 로고
    • Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder
    • Cohen IL, Vietze PM, Sudhulter V, Jenkins EC, Brown WT. Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. J Child Psychol Psychiatry 1989;30:845-56.
    • (1989) J Child Psychol Psychiatry , vol.30 , pp. 845-856
    • Cohen, I.L.1    Vietze, P.M.2    Sudhulter, V.3    Jenkins, E.C.4    Brown, W.T.5
  • 53
    • 0026057786 scopus 로고
    • Syntactic delay and pragmatic deviance in the language of fragile X males
    • Sudhalter V, Scarborough HS, Cohen IL. Syntactic delay and pragmatic deviance in the language of fragile X males. AmJ Med Genet 1991;38:493-7.
    • (1991) AmJ Med Genet , vol.38 , pp. 493-497
    • Sudhalter, V.1    Scarborough, H.S.2    Cohen, I.L.3
  • 54
    • 0021964731 scopus 로고
    • Developmental and behavioural disturbances in 13 boys with fragile X syndrome
    • Largo RH, Schinzel A. Developmental and behavioural disturbances in 13 boys with fragile X syndrome. Eur J Pediatr 1985;143:269-75.
    • (1985) Eur J Pediatr , vol.143 , pp. 269-275
    • Largo, R.H.1    Schinzel, A.2
  • 55
    • 0021696779 scopus 로고    scopus 로고
    • Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients
    • Fryns JP, Kleczkowska A, Kubien E, Van den Berghe H. Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paediatr Scand 1984;Ss313:1-23.
    • Acta Paediatr Scand , vol.1984 SS313 , pp. 1-23
    • Fryns, J.P.1    Kleczkowska, A.2    Kubien, E.3    Van Den Berghe, H.4
  • 59
    • 0021797558 scopus 로고
    • Learning disabilities and attentional problems in boys with the fragile X syndrome
    • Hagerman RJ, Kemper M, Hudson M. Learning disabilities and attentional problems in boys with the fragile X syndrome. Am J Dis Child 1985;139:674-8.
    • (1985) Am J Dis Child , vol.139 , pp. 674-678
    • Hagerman, R.J.1    Kemper, M.2    Hudson, M.3
  • 60
    • 0020493514 scopus 로고
    • Is the fragile X syndrome amenable to treatment?
    • Lejeune J. Is the fragile X syndrome amenable to treatment? Lancet 1982;i:273-4.
    • (1982) Lancet , vol.1 , pp. 273-274
    • Lejeune, J.1
  • 61
    • 0021355158 scopus 로고
    • Folic acid therapy in the fragile X syndrome
    • Brown WT, Jenkins EC, Friedman E, et al. Folic acid therapy in the fragile X syndrome. Am J Med Genet 1984; 17:289-97.
    • (1984) Am J Med Genet , vol.17 , pp. 289-297
    • Brown, W.T.1    Jenkins, E.C.2    Friedman, E.3
  • 62
    • 0022574816 scopus 로고
    • High dose folic acid treatment of fragile (X) males
    • Brown WT, Cohen IL, Fisch GS, et al. High dose folic acid treatment of fragile (X) males. Am J Med Genet 1986;23:263-71.
    • (1986) Am J Med Genet , vol.23 , pp. 263-271
    • Brown, W.T.1    Cohen, I.L.2    Fisch, G.S.3
  • 65
    • 0026497518 scopus 로고
    • Double-blind, placebo-controlled crossover study of folinic acid (Leucovorin) for the treatment of fragile X syndrome
    • Strom CM, Brusca RM, Pizzi WJ. Double-blind, placebo-controlled crossover study of folinic acid (Leucovorin) for the treatment of fragile X syndrome. Am J Med Genet 1992;44:676-82.
    • (1992) Am J Med Genet , vol.44 , pp. 676-682
    • Strom, C.M.1    Brusca, R.M.2    Pizzi, W.J.3
  • 66
    • 0026493888 scopus 로고
    • The fragile X syndrome:recent developments
    • Turk J. The fragile X syndrome:recent developments. Current Opinion in Psychology 1992;2:677-82.
    • (1992) Current Opinion in Psychology , vol.2 , pp. 677-682
    • Turk, J.1
  • 67
    • 0023712542 scopus 로고
    • A controlled trial of stimulant medication in children with the fragile X syndrome
    • Hagerman RJ, Murphy MA, Wittenberger MD. A controlled trial of stimulant medication in children with the fragile X syndrome. Am J Med Genet 1988;30:377-92.
    • (1988) Am J Med Genet , vol.30 , pp. 377-392
    • Hagerman, R.J.1    Murphy, M.A.2    Wittenberger, M.D.3
  • 69
    • 0000524625 scopus 로고
    • A pedigree of mental defect showing sex-linkage
    • Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry 1943;6:154-7.
    • (1943) J Neurol Psychiatry , vol.6 , pp. 154-157
    • Martin, J.P.1    Bell, J.2
  • 70
    • 0014517848 scopus 로고
    • A marker X-chromosome
    • Lubs HA. A marker X-chromosome. Am J Hum Genet 1969;21:231-14.
    • (1969) Am J Hum Genet , vol.21 , pp. 231-314
    • Lubs, H.A.1
  • 71
    • 0017381277 scopus 로고
    • Fragile sites on human chromsomes: Demonstration of their dependence on the type of tissue culture medium
    • Sutherland GR. Fragile sites on human chromsomes: demonstration of their dependence on the type of tissue culture medium. Science 1977;197:136-18.
    • (1977) Science , vol.197 , pp. 136-218
    • Sutherland, G.R.1
  • 72
    • 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. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-14.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 74
    • 0026700975 scopus 로고
    • Delayed replication of Xq27 in individuals with the fragile X syndrome
    • Webb T. Delayed replication of Xq27 in individuals with the fragile X syndrome. Am J Med Genet 1992;43:1057-62.
    • (1992) Am J Med Genet , vol.43 , pp. 1057-1062
    • Webb, T.1
  • 75
    • 0027176828 scopus 로고
    • Association of fragile X syndrome with delayed replication of the FMR1 gene
    • Hansen RS, Canfield TK, Lamb MM, Gartler SM, Laird CD. Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell 1993;73:1403-9.
    • (1993) Cell , vol.73 , pp. 1403-1409
    • Hansen, R.S.1    Canfield, T.K.2    Lamb, M.M.3    Gartler, S.M.4    Laird, C.D.5
  • 77
    • 0026865445 scopus 로고
    • Characterisation of a new rare fragile site easily confused with the fragile X
    • Sutherland GR, Baker E. Characterisation of a new rare fragile site easily confused with the fragile X. Hum Mol Genet 1992;1:111-13.
    • (1992) Hum Mol Genet , vol.1 , pp. 111-113
    • Sutherland, G.R.1    Baker, E.2
  • 78
    • 0027203684 scopus 로고
    • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
    • Knight SJ, Flannery AV, Hirst MC, et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993;74:127-34.
    • (1993) Cell , vol.74 , pp. 127-134
    • Knight, S.J.1    Flannery, A.V.2    Hirst, M.C.3
  • 80
    • 0027968066 scopus 로고
    • Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data
    • Hamel BC, Smits AP, de Graaff E, et al. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet 1994;55:923-31.
    • (1994) Am J Hum Genet , vol.55 , pp. 923-931
    • Hamel, B.C.1    Smits, A.P.2    De Graaff, E.3
  • 82
    • 34548006645 scopus 로고
    • The use of molecular DNA testing to distinguish between mutations at the fragile X-A and -E sites
    • Bullock S, Felix CA, Butterworth MA, Stevenson K, Williams D. The use of molecular DNA testing to distinguish between mutations at the fragile X-A and -E sites. J Med Genet 1995;32:154.
    • (1995) J Med Genet , vol.32 , pp. 154
    • Bullock, S.1    Felix, C.A.2    Butterworth, M.A.3    Stevenson, K.4    Williams, D.5
  • 83
    • 0029977269 scopus 로고    scopus 로고
    • Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers
    • Murray A, Youings S, Dennis N, et al. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996;5:727-35.
    • (1996) Hum Mol Genet , vol.5 , pp. 727-735
    • Murray, A.1    Youings, S.2    Dennis, N.3
  • 84
    • 0025304617 scopus 로고
    • The common fragile site in band Xq27 of the human X chromosome is not coincident with the fragile X
    • Sutherland GR, Baker E. The common fragile site in band Xq27 of the human X chromosome is not coincident with the fragile X. Clin Genet 1990;37:167-72.
    • (1990) Clin Genet , vol.37 , pp. 167-172
    • Sutherland, G.R.1    Baker, E.2
  • 85
    • 0027449978 scopus 로고
    • The identification of a third fragile site, FRAXF in Xq27-28 distal to both FRAXA and FRAXE
    • Hirst MC, Barnicoat A, Flynn G. The identification of a third fragile site, FRAXF in Xq27-28 distal to both FRAXA and FRAXE. Hum Mol Genet 1993;2:197-200.
    • (1993) Hum Mol Genet , vol.2 , pp. 197-200
    • Hirst, M.C.1    Barnicoat, A.2    Flynn, G.3
  • 86
    • 0028099702 scopus 로고
    • Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
    • Parrish JE, Oostra BA, Verkerk AJ, et al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet 1994;8:229-35.
    • (1994) Nat Genet , vol.8 , pp. 229-235
    • Parrish, J.E.1    Oostra, B.A.2    Verkerk, A.J.3
  • 87
    • 0021345438 scopus 로고
    • The fragile X syndrome I: Familial variation in the proportion of lymphocytes with the fragile site in males
    • Soudek D, Partington MW, Lawson JS. The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males. Am J Med Genet 1984;17:241-52.
    • (1984) Am J Med Genet , vol.17 , pp. 241-252
    • Soudek, D.1    Partington, M.W.2    Lawson, J.S.3
  • 89
    • 0025977082 scopus 로고
    • Genetic and other factors that contribute to variability in cytogenetic expression in fragile X males
    • Fisch GS, Silverman W, Jenkins EC. Genetic and other factors that contribute to variability in cytogenetic expression in fragile X males. Am J Med Genet 1991;38:404-7.
    • (1991) Am J Med Genet , vol.38 , pp. 404-407
    • Fisch, G.S.1    Silverman, W.2    Jenkins, E.C.3
  • 90
    • 0026008099 scopus 로고
    • Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes
    • Jacky PB, Ahuja YR, Anyane-Yeboa K, et al. Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. Am J Med Genet 1991;38:400-3.
    • (1991) Am J Med Genet , vol.38 , pp. 400-403
    • Jacky, P.B.1    Ahuja, Y.R.2    Anyane-Yeboa, K.3
  • 91
    • 0019459746 scopus 로고
    • FUdR induction of the X chromosome fragile site: Evidence for the mechanism of folic acid and thymidine inhibition
    • Glover TW. FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition. Am J Hum Genet 1981;33:234-42.
    • (1981) Am J Hum Genet , vol.33 , pp. 234-242
    • Glover, T.W.1
  • 92
    • 0022351365 scopus 로고
    • Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity
    • Cantu ES, Nussbaum RL, Airhart SD, Ledbetter DH. Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet 1985;37:947-55.
    • (1985) Am J Hum Genet , vol.37 , pp. 947-955
    • Cantu, E.S.1    Nussbaum, R.L.2    Airhart, S.D.3    Ledbetter, D.H.4
  • 93
    • 0022227079 scopus 로고
    • Excess thymidine induces folate sensitive fragile sites
    • Sutherland GR, Baker E, Fratini A. Excess thymidine induces folate sensitive fragile sites. Am J Med Genet 1985; 22:433-13.
    • (1985) Am J Med Genet , vol.22 , pp. 433-513
    • Sutherland, G.R.1    Baker, E.2    Fratini, A.3
  • 96
    • 0026354010 scopus 로고
    • Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
    • Rousseau F, Heitz D, Oberlé I, Mandel JL. Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet 1991;28:830-6.
    • (1991) J Med Genet , vol.28 , pp. 830-836
    • Rousseau, F.1    Heitz, D.2    Oberlé, I.3    Mandel, J.L.4
  • 97
    • 0021336990 scopus 로고
    • Cytogenetic investigation in mentally retarded and normal males from 14 families with the fragile site at Xq28: Results of folic acid treat-ment on fra(X) expression
    • Brøndum Nielson K, Tommerup N. Cytogenetic investigation in mentally retarded and normal males from 14 families with the fragile site at Xq28: results of folic acid treat-ment on fra(X) expression. Hum Genet 1984;66:225-9.
    • (1984) Hum Genet , vol.66 , pp. 225-229
    • Brøndum, N.K.1    Tommerup, N.2
  • 98
    • 0026849711 scopus 로고
    • Heritable unstable DNA sequences
    • Richards RI, Sutherland GR. Heritable unstable DNA sequences [news]. Nat Genet 1992;1:7-9.
    • (1992) Nat Genet , vol.1 , pp. 7-9
    • Richards, R.I.1    Sutherland, G.R.2
  • 99
    • 0025800165 scopus 로고
    • Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
    • Kremer EJ, Pritchard M, Lynch M, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-14.
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.J.1    Pritchard, M.2    Lynch, M.3
  • 100
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DP, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3
  • 101
  • 102
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 103
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslatedregion of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslatedregion of the gene. Science 1992;255:1253-5.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 104
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic dystrophy
    • Fu YH, Pizzuti A, Fenwick RG, et al. An unstable triplet repeat in a gene related to myotonic dystrophy. Science 1992;255:1256-8.
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick, R.G.3
  • 105
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
  • 106
    • 0027164698 scopus 로고
    • Expansion of an unstable CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-6.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.-Y.2    Banfi, S.3
  • 107
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 108
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12
    • Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12. Nat Genet 1994;6:14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 110
    • 0026719817 scopus 로고
    • Fragile-X syndrome: Unique genetics of the heritable unstable element
    • Yu S, Mulley J, Loesch D, et al. Fragile-X syndrome: unique genetics of the heritable unstable element. Am J Hum Genet 1992;50:968-80.
    • (1992) Am J Hum Genet , vol.50 , pp. 968-980
    • Yu, S.1    Mulley, J.2    Loesch, D.3
  • 112
    • 0027265596 scopus 로고
    • Human and murine FMR-1: Alternative splicing and translational initiation downstream of the CGG-repeat
    • Ashley CT, Sutcliffe JS, Kunst CB, et al. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet 1993; 4:244-51.
    • (1993) Nat Genet , vol.4 , pp. 244-251
    • Ashley, C.T.1    Sutcliffe, J.S.2    Kunst, C.B.3
  • 113
    • 0025970882 scopus 로고
    • Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
    • Bell MV, Hirst MC, Nakahori Y, et al. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 1991;64:861-6.
    • (1991) Cell , vol.64 , pp. 861-866
    • Bell, M.V.1    Hirst, M.C.2    Nakahori, Y.3
  • 114
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-102.
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberlé, I.1    Rousseau, F.2    Heitz, D.3
  • 115
    • 0027236971 scopus 로고
    • Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
    • Verheij C, Bakker CE, de Graaff E, et al. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 1993;363:722-4.
    • (1993) Nature , vol.363 , pp. 722-724
    • Verheij, C.1    Bakker, C.E.2    De Graaff, E.3
  • 116
    • 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, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-40.
    • (1993) Nat Genet , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.L.5
  • 117
    • 0027715424 scopus 로고
    • Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
    • Bachner D, Manca A, Steinbach P, et al. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum Mol Genet 1993;2:2043-50.
    • (1993) Hum Mol Genet , vol.2 , pp. 2043-2050
    • Bachner, D.1    Manca, A.2    Steinbach, P.3
  • 118
    • 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. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet 1993;3:36-43.
    • (1993) Nat Genet , vol.3 , pp. 36-43
    • Hinds, H.L.1    Ashley, C.T.2    Sutcliffe, J.S.3
  • 119
    • 0029063222 scopus 로고
    • Characterisation of FMR1 proteins isolated from different tissues
    • Verheij C, de Graaff E, Bakker CE, et al. Characterisation of FMR1 proteins isolated from different tissues. Hum Mol Genet 1995;4:895-901.
    • (1995) Hum Mol Genet , vol.4 , pp. 895-901
    • Verheij, C.1    De Graaff, E.2    Bakker, C.E.3
  • 120
    • 0027327486 scopus 로고
    • The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
    • Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 1993;74:291-8.
    • (1993) Cell , vol.74 , pp. 291-298
    • Siomi, H.1    Siomi, M.C.2    Nussbaum, R.L.3    Dreyfuss, G.4
  • 121
    • 0027377580 scopus 로고
    • FMR1 protein: Conserved RNP family domains and selective binding
    • Ashley CT Jr, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective binding. Science 1993;262:563-6.
    • (1993) Science , vol.262 , pp. 563-566
    • Ashley Jr., C.T.1    Wilkinson, K.D.2    Reines, D.3    Warren, S.T.4
  • 122
    • 0028979161 scopus 로고
    • Quantitative comparison of FMR1 gene expression in normal and premutation alleles
    • Feng Y, Lakkis L, Devys D, Warren ST. Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 1995;56:106-13.
    • (1995) Am J Hum Genet , vol.56 , pp. 106-113
    • Feng, Y.1    Lakkis, L.2    Devys, D.3    Warren, S.T.4
  • 123
    • 0030059545 scopus 로고    scopus 로고
    • The fragile X mental retardation protein is associated with ribosomes
    • Khandjian EW, Corbin F, Woerly S, Rousseau F. The fragile X mental retardation protein is associated with ribosomes. Nat Genet 1996;12:91-3.
    • (1996) Nat Genet , vol.12 , pp. 91-93
    • Khandjian, E.W.1    Corbin, F.2    Woerly, S.3    Rousseau, F.4
  • 124
    • 0026907552 scopus 로고
    • Fragile X syndrome without CCG amplification has an FMR1 deletion
    • Gedeon AK, Baker E, Robinson H, et al. Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet 1992;1:341-1.
    • (1992) Nat Genet , vol.1 , pp. 341-341
    • Gedeon, A.K.1    Baker, E.2    Robinson, H.3
  • 125
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
    • Wöhrle D, Kotzot D, Hirst MC, et al. A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 1992;51: 299-306.
    • (1992) Am J Hum Genet , vol.51 , pp. 299-306
    • Wöhrle, D.1    Kotzot, D.2    Hirst, M.C.3
  • 126
    • 0028267736 scopus 로고
    • A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
    • Meijer H, de Graaff E, Merckx DM, et al. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet 1994;3:615-20.
    • (1994) Hum Mol Genet , vol.3 , pp. 615-620
    • Meijer, H.1    De Graaff, E.2    Merckx, D.M.3
  • 127
  • 128
    • 0028168645 scopus 로고
    • Length of uninterrupted CGG repeats determines instability in the FMR1 gene
    • Eichler EE, Holden JJA, Popovich BW, et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 1994;8:88-94.
    • (1994) Nat Genet , vol.8 , pp. 88-94
    • Eichler, E.E.1    Holden, J.J.A.2    Popovich, B.W.3
  • 129
    • 0028133504 scopus 로고
    • Precursor arrays for triplet repeat expansion at the fragile X locus
    • Hirst MC, Grewal PK, Davies KE. Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Mol Genet 1994;3:1553-60.
    • (1994) Hum Mol Genet , vol.3 , pp. 1553-1560
    • Hirst, M.C.1    Grewal, P.K.2    Davies, K.E.3
  • 130
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst CB, Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994;77:853-61.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 131
    • 0028074287 scopus 로고
    • Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
    • Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN. Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet 1994;3:1543-51.
    • (1994) Hum Mol Genet , vol.3 , pp. 1543-1551
    • Snow, K.1    Tester, D.J.2    Kruckeberg, K.E.3    Schaid, D.J.4    Thibodeau, S.N.5
  • 132
    • 0028858268 scopus 로고
    • Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots
    • Dawson AJ, Chodirker BN, Chudley AE. Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med 1995;56:63-9.
    • (1995) Biochem Mol Med , vol.56 , pp. 63-69
    • Dawson, A.J.1    Chodirker, B.N.2    Chudley, A.E.3
  • 133
    • 0028886722 scopus 로고
    • Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
    • Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL. Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet 1995;4:2199-208.
    • (1995) Hum Mol Genet , vol.4 , pp. 2199-2208
    • Eichler, E.E.1    Hammond, H.A.2    Macpherson, J.N.3    Ward, P.A.4    Nelson, D.L.5
  • 134
    • 0029934242 scopus 로고    scopus 로고
    • Prenatal-diagnosis and carrier screening for fragile X by PCR
    • Brown WT, Nolin S, Houck G, et al. Prenatal-diagnosis and carrier screening for fragile X by PCR. Am J Med Genet 1996;64:191-5.
    • (1996) Am J Med Genet , vol.64 , pp. 191-195
    • Brown, W.T.1    Nolin, S.2    Houck, G.3
  • 136
    • 0027375451 scopus 로고
    • Rapid fragile X carrier screening and prenatal diagnosis using a non-radioactive PCR test
    • Brown WT, Houck GE Jr, Jeziorowska A, et al. Rapid fragile X carrier screening and prenatal diagnosis using a non-radioactive PCR test. JAMA 1993;270:1569-75.
    • (1993) JAMA , vol.270 , pp. 1569-1575
    • Brown, W.T.1    Houck Jr., G.E.2    Jeziorowska, A.3
  • 137
    • 0027500851 scopus 로고
    • Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate
    • Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H. Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet 1993;92:431-6.
    • (1993) Hum Genet , vol.92 , pp. 431-436
    • Arinami, T.1    Asano, M.2    Kobayashi, K.3    Yanagi, H.4    Hamaguchi, H.5
  • 138
    • 0026347628 scopus 로고
    • Fragile X genotype characterized by an unstable region of DNA
    • Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991; 252:1179-81.
    • (1991) Science , vol.252 , pp. 1179-1181
    • Yu, S.1    Pritchard, M.2    Kremer, E.3
  • 140
    • 0026922707 scopus 로고
    • DNA methylation represses FMR-1 transcription in fragile X syndrome
    • Sutcliffe JS, Nelson DL, Zhang F, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992;1:397-400.
    • (1992) Hum Mol Genet , vol.1 , pp. 397-400
    • Sutcliffe, J.S.1    Nelson, D.L.2    Zhang, F.3
  • 141
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-81.
    • (1991) N Engl J Med , vol.325 , pp. 1673-1681
    • Rousseau, F.1    Heitz, D.2    Biancalana, V.3
  • 142
    • 0027793938 scopus 로고
    • Mental status and fragile X expression in relation to FMR-1 gene mutation
    • de Vries BB, Wiegers AM, de Graaff E, et al. Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1993;1:72-9.
    • (1993) Eur J Hum Genet , vol.1 , pp. 72-79
    • De Vries, B.B.1    Wiegers, A.M.2    De Graaff, E.3
  • 143
    • 0028264043 scopus 로고
    • High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
    • Hagerman RJ, Hull CE, Safanda JF, et al. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994;51:298-308.
    • (1994) Am J Med Genet , vol.51 , pp. 298-308
    • Hagerman, R.J.1    Hull, C.E.2    Safanda, J.F.3
  • 144
    • 0028128021 scopus 로고
    • Diagnosis of fragile X syndrome by direct mutation analysis
    • Väisänen ML, Kähkönen M, Leisti J. Diagnosis of fragile X syndrome by direct mutation analysis. Hum Genet 1994;93: 143-7.
    • (1994) Hum Genet , vol.93 , pp. 143-147
    • Väisänen, M.L.1    Kähkönen, M.2    Leisti, J.3
  • 146
    • 0028102488 scopus 로고
    • Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
    • van den Ouweland AM, Deelen WH, Kunst CB, et al. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet 1994;3:1823-7.
    • (1994) Hum Mol Genet , vol.3 , pp. 1823-1827
    • Van Den Ouweland, A.M.1    Deelen, W.H.2    Kunst, C.B.3
  • 148
    • 0027486670 scopus 로고
    • Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome
    • McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, et al. Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 1993;53:800-9.
    • (1993) Am J Hum Genet , vol.53 , pp. 800-809
    • McConkie-Rosell, A.1    Lachiewicz, A.M.2    Spiridigliozzi, G.A.3
  • 150
    • 0027288903 scopus 로고
    • The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm
    • Reyniers E, Vits L, de Boulle K, et al. The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 1993;4:143-6.
    • (1993) Nat Genet , vol.4 , pp. 143-146
    • Reyniers, E.1    Vits, L.2    De Boulle, K.3
  • 151
    • 0029152257 scopus 로고
    • Instability of the CGG repeat and expression of the FMR1 protein in a male fragile-X patient with a lung-tumor
    • de Graaff E, Willemsen R, Zhong N, et al. Instability of the CGG repeat and expression of the FMR1 protein in a male fragile-X patient with a lung-tumor. Am J Hum Genet 1995;57:609-18.
    • (1995) Am J Hum Genet , vol.57 , pp. 609-618
    • De Graaff, E.1    Willemsen, R.2    Zhong, N.3
  • 152
    • 0030012165 scopus 로고    scopus 로고
    • Mosaicism for the fragile-X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene
    • Mila M, Castell-Vibel S, Sanchez A, Lazaro C, Villa M, Estivill X. Mosaicism for the fragile-X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet 1996;33:338-40.
    • (1996) J Med Genet , vol.33 , pp. 338-340
    • Mila, M.1    Castell-Vibel, S.2    Sanchez, A.3    Lazaro, C.4    Villa, M.5    Estivill, X.6
  • 153
    • 0028201020 scopus 로고
    • DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene
    • van den Ouweland AM, de Vries BB, Bakker PL, et al. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet 1994;51: 482-5.
    • (1994) Am J Med Genet , vol.51 , pp. 482-485
    • Van Den Ouweland, A.M.1    De Vries, B.B.2    Bakker, P.L.3
  • 156
    • 2642699457 scopus 로고
    • Fragile-X syndrome resulting from a 400 basepair deletion within the FMR1 gene
    • Hart PS, Olson SM, Crandall K, Tarleton J. Fragile-X syndrome resulting from a 400 basepair deletion within the FMR1 gene. Am J Hum Genet 1995;Ss57:1395.
    • (1995) Am J Hum Genet , vol.57 , pp. 1395
    • Hart, P.S.1    Olson, S.M.2    Crandall, K.3    Tarleton, J.4
  • 157
    • 0028239232 scopus 로고
    • Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region
    • Trottier Y, Imbert G, Poustka A, Fryns JP, Mandel JL. Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. Am J Med Genet 1994;51:454-7.
    • (1994) Am J Med Genet , vol.51 , pp. 454-457
    • Trottier, Y.1    Imbert, G.2    Poustka, A.3    Fryns, J.P.4    Mandel, J.L.5
  • 159
    • 0027509234 scopus 로고
    • A point mutation in the FMR-1 gene associated with fragile X mental retardation
    • de Boulle K, Verkerk AJ, Reyniers E, et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993;3:31-5.
    • (1993) Nat Genet , vol.3 , pp. 31-35
    • De Boulle, K.1    Verkerk, A.J.2    Reyniers, E.3
  • 160
    • 0028197078 scopus 로고
    • Frequency and stability of the fragile X premutation
    • Reiss AL, Kazazian HH Jr, Krebs CM, et al. Frequency and stability of the fragile X premutation. Hum Mol Genet 1994;3:393-8.
    • (1994) Hum Mol Genet , vol.3 , pp. 393-398
    • Reiss, A.L.1    Kazazian Jr., H.H.2    Krebs, C.M.3
  • 161
    • 0028283366 scopus 로고
    • Prediction of mental status in carriers of the fragile X mutation using CGG repeat length
    • Smits A, Smeets D, Hamel B, Dreesen J, de Haan A, van Oost B. Prediction of mental status in carriers of the fragile X mutation using CGG repeat length. Am J Med Genet 1994;51:497-500.
    • (1994) Am J Med Genet , vol.51 , pp. 497-500
    • Smits, A.1    Smeets, D.2    Hamel, B.3    Dreesen, J.4    De Haan, A.5    Van Oost, B.6
  • 162
    • 0027421667 scopus 로고
    • Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
    • Steinbach P, Wöhrle D, Tariverdian G, et al. Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families. Hum Genet 1993;92:491-8.
    • (1993) Hum Genet , vol.92 , pp. 491-498
    • Steinbach, P.1    Wöhrle, D.2    Tariverdian, G.3
  • 163
    • 0026777122 scopus 로고
    • Problem solving limitations among cytogenetically expressing fragile X women
    • Mazzocco MM, Hagerman RJ, Pennington BF. Problem solving limitations among cytogenetically expressing fragile X women. Am J Med Genet 1992;43:78-86.
    • (1992) Am J Med Genet , vol.43 , pp. 78-86
    • Mazzocco, M.M.1    Hagerman, R.J.2    Pennington, B.F.3
  • 164
    • 0027674521 scopus 로고
    • The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity
    • Mazzocco MM, Pennington BF, Hagerman RJ. The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity. J Dev Behav Pediatr 1993;14:328-35.
    • (1993) J Dev Behav Pediatr , vol.14 , pp. 328-335
    • Mazzocco, M.M.1    Pennington, B.F.2    Hagerman, R.J.3
  • 165
    • 0026607007 scopus 로고
    • Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: Normal women versus carrier of X-linked severe combined immunodeficiency
    • Puck JM, Stewart CC, Nussbaum RL. Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carrier of X-linked severe combined immunodeficiency. Am J Hum Genet 1992;50:742-8.
    • (1992) Am J Hum Genet , vol.50 , pp. 742-748
    • Puck, J.M.1    Stewart, C.C.2    Nussbaum, R.L.3
  • 166
    • 0015717515 scopus 로고
    • Primordial cell pool size and lineage relationships of five human cell types
    • Fialkow BJ. Primordial cell pool size and lineage relationships of five human cell types. Ann Hum Genet 1973;37:39-48.
    • (1973) Ann Hum Genet , vol.37 , pp. 39-48
    • Fialkow, B.J.1
  • 167
    • 0028788183 scopus 로고
    • X inactivation of the FMR1 fragile X mental retardation gene
    • Kirchgessner CU, Warren ST, Willard HF. X inactivation of the FMR1 fragile X mental retardation gene. J Med Genet 1995;32:925-9.
    • (1995) J Med Genet , vol.32 , pp. 925-929
    • Kirchgessner, C.U.1    Warren, S.T.2    Willard, H.F.3
  • 168
    • 34548005995 scopus 로고
    • Comparison of methods for studying X inactivation status in females
    • Watkiss E, Webb T. Comparison of methods for studying X inactivation status in females. J Med Genet 1995;32:151.
    • (1995) J Med Genet , vol.32 , pp. 151
    • Watkiss, E.1    Webb, T.2
  • 170
    • 0030062816 scopus 로고    scopus 로고
    • X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin
    • Azofeifa J, Waldherr R, Cremer M. X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin. Hum Genet 1996;97:330-3.
    • (1996) Hum Genet , vol.97 , pp. 330-333
    • Azofeifa, J.1    Waldherr, R.2    Cremer, M.3
  • 171
    • 0028969636 scopus 로고
    • The fragile X premutation in carriers and its effect on mutation size in offspring
    • Fisch GS, Snow K, Thibodeau SN, et al. The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet 1995;56:1147-55.
    • (1995) Am J Hum Genet , vol.56 , pp. 1147-1155
    • Fisch, G.S.1    Snow, K.2    Thibodeau, S.N.3
  • 172
    • 0026724283 scopus 로고
    • High proportion of twins in carriers of fragile X syndrome
    • Tizzano EF, Baiget M. High proportion of twins in carriers of fragile X syndrome. J Med Genet 1992;29:599.
    • (1992) J Med Genet , vol.29 , pp. 599
    • Tizzano, E.F.1    Baiget, M.2
  • 173
    • 0027985106 scopus 로고
    • Dizygous twinning and premature menopause in fragile X syndrome
    • Turner G, Robinson H, Wake S, Martin N. Dizygous twinning and premature menopause in fragile X syndrome. Lancet 1994;344:1500.
    • (1994) Lancet , vol.344 , pp. 1500
    • Turner, G.1    Robinson, H.2    Wake, S.3    Martin, N.4
  • 174
    • 0028237295 scopus 로고
    • Obstetrical and gynecological complications in fragile X carriers: A multicenter study
    • Schwartz CE, Dean J, Howard-Peebles PN, et al. Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet 1994;51:400-2.
    • (1994) Am J Med Genet , vol.51 , pp. 400-402
    • Schwartz, C.E.1    Dean, J.2    Howard-Peebles, P.N.3
  • 175
    • 0027383339 scopus 로고
    • A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome
    • Hull C, Hagerman RJ. A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. Am J Dis Child 1993;147:1236-11.
    • (1993) Am J Dis Child , vol.147 , pp. 1236-1311
    • Hull, C.1    Hagerman, R.J.2
  • 176
    • 0029097960 scopus 로고
    • Fragile X premutations in familiial premature ovarian failure
    • Conway GS, Hettiarachchi S, Murray A, Jacobs PA. Fragile X premutations in familiial premature ovarian failure. Lancet 1995;346:309-10.
    • (1995) Lancet , vol.346 , pp. 309-310
    • Conway, G.S.1    Hettiarachchi, S.2    Murray, A.3    Jacobs, P.A.4
  • 177
    • 0027482074 scopus 로고
    • Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
    • Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H. Neurobehavioral effects of the fragile X premutation in adult women: a controlled study. Am J Hum Genet. 1993;52:884-94.
    • (1993) Am J Hum Genet. , vol.52 , pp. 884-894
    • Reiss, A.L.1    Freund, L.2    Abrams, M.T.3    Boehm, C.4    Kazazian, H.5
  • 178
    • 0028673977 scopus 로고
    • Neurobehavioral characteristics of CGG amplification status in fragile X females
    • Thompson NM, Gulley ML, Rogeness GA, et al. Neurobehavioral characteristics of CGG amplification status in fragile X females. Am J Med Genet 1994;54:378-83.
    • (1994) Am J Med Genet , vol.54 , pp. 378-383
    • Thompson, N.M.1    Gulley, M.L.2    Rogeness, G.A.3
  • 180
    • 0028340191 scopus 로고
    • Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings
    • Steyaert J, Borghgraef M, Fryns JP. Apparently enhanced visual information processing in female fragile X carriers: preliminary findings. Am J Med Genet 1994;51:374-7.
    • (1994) Am J Med Genet , vol.51 , pp. 374-377
    • Steyaert, J.1    Borghgraef, M.2    Fryns, J.P.3
  • 181
    • 0028278217 scopus 로고
    • FRAXA locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation
    • von Koskull H, Gahmberg N, Salonen R, Salo A, Peippo M. FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation. Am J Med Genet 1994;51:486-9.
    • (1994) Am J Med Genet , vol.51 , pp. 486-489
    • Von Koskull, H.1    Gahmberg, N.2    Salonen, R.3    Salo, A.4    Peippo, M.5
  • 182
    • 0026625926 scopus 로고
    • A reinvestigation of thirty three fragile(X) families using probe StB12.3
    • Macpherson J, Harvey J, Curtis G, et al. A reinvestigation of thirty three fragile(X) families using probe StB12.3. Am J Med Genet 1992;43:905-12.
    • (1992) Am J Med Genet , vol.43 , pp. 905-912
    • Macpherson, J.1    Harvey, J.2    Curtis, G.3
  • 183
    • 0028283365 scopus 로고
    • Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes
    • Mingroni-Netto RC, Fernandes JG, Vianna-Morgante AM. Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes. Am J Med Genet 1994;51:443-6.
    • (1994) Am J Med Genet , vol.51 , pp. 443-446
    • Mingroni-Netto, R.C.1    Fernandes, J.G.2    Vianna-Morgante, A.M.3
  • 184
    • 0026750370 scopus 로고
    • Analysis of mutations at the fragile X locus using the DNA probe Ox1.9
    • Snow K, Doud L, Hagerman R, et al. Analysis of mutations at the fragile X locus using the DNA probe Ox1.9. Am J Med Genet 1992;43:244-54.
    • (1992) Am J Med Genet , vol.43 , pp. 244-254
    • Snow, K.1    Doud, L.2    Hagerman, R.3
  • 185
    • 0027361908 scopus 로고
    • Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome
    • Wang Q, Green E, Barnicoat A, et al. Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet 1993;342:1025-6.
    • (1993) Lancet , vol.342 , pp. 1025-1026
    • Wang, Q.1    Green, E.2    Barnicoat, A.3
  • 186
    • 0023735854 scopus 로고
    • Fragile X families in a northern Swedish county - A genealogical study demonstrating apparent paternal transmission from the 18th century
    • Holmgren G, Blomquist H, Drugge U, Gustavson K. Fragile X families in a northern Swedish county - a genealogical study demonstrating apparent paternal transmission from the 18th century. Am J Med Genet 1988;30:673-9.
    • (1988) Am J Med Genet , vol.30 , pp. 673-679
    • Holmgren, G.1    Blomquist, H.2    Drugge, U.3    Gustavson, K.4
  • 187
    • 0027411739 scopus 로고
    • The fragile X syndrome: No evidence for any recent mutations
    • Smits AP, Dreesen JC, Post JG, et al. The fragile X syndrome: no evidence for any recent mutations. J Med Genet 1993;30:94-6.
    • (1993) J Med Genet , vol.30 , pp. 94-96
    • Smits, A.P.1    Dreesen, J.C.2    Post, J.G.3
  • 189
    • 0027416537 scopus 로고
    • Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes
    • Oudet C, Mornet E, Serre JL, et al. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet 1993;52:297-304.
    • (1993) Am J Hum Genet , vol.52 , pp. 297-304
    • Oudet, C.1    Mornet, E.2    Serre, J.L.3
  • 190
    • 0027366312 scopus 로고
    • Founder effect in a Belgian-Dutch fragile X population
    • Buyle S, Reyniers E, Vits L, et al. Founder effect in a Belgian-Dutch fragile X population. Hum Genet 1993;92: 269-72.
    • (1993) Hum Genet , vol.92 , pp. 269-272
    • Buyle, S.1    Reyniers, E.2    Vits, L.3
  • 192
    • 0028219673 scopus 로고
    • Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation
    • Macpherson JN, Bullman H, Youings SA Jacobs PA. Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation. Hum Mol Genet 1994;3:399-105.
    • (1994) Hum Mol Genet , vol.3 , pp. 399-1105
    • Macpherson, J.N.1    Bullman, H.2    Youings, S.A.3    Jacobs, P.A.4
  • 193
    • 0028246324 scopus 로고
    • Haplotype analysis at the FRAXA locus in the Japanese population
    • Richards RI, Kondo I, Holman K, et al. Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 1994;51:412-16.
    • (1994) Am J Med Genet , vol.51 , pp. 412-416
    • Richards, R.I.1    Kondo, I.2    Holman, K.3
  • 194
    • 0027947475 scopus 로고
    • The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes
    • Haataja R, Väisänen ML, Li M, Ryynänen M, Leisti J. The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 1994;94:479-83.
    • (1994) Hum Genet , vol.94 , pp. 479-483
    • Haataja, R.1    Väisänen, M.L.2    Li, M.3    Ryynänen, M.4    Leisti, J.5
  • 195
    • 0029996849 scopus 로고    scopus 로고
    • Fragile-X founder chromosomes in Italy - A few initial events and possible explanation for their heterogeneity
    • Chiurazzi P, Genuardi M, Kozak L, et al. Fragile-X founder chromosomes in Italy - a few initial events and possible explanation for their heterogeneity. Am J Med Genet 1996;64:209-15.
    • (1996) Am J Med Genet , vol.64 , pp. 209-215
    • Chiurazzi, P.1    Genuardi, M.2    Kozak, L.3
  • 196
    • 0029916569 scopus 로고    scopus 로고
    • Haplotype and interspersion analysis of the FMR1 CGG repeat identifies 2 different mutational pathways for the origin of the fragile-X syndrome
    • Eichler EE, Macpherson JM, Murray A, Jacobs PA, Chakravarti A, Nelson DL. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies 2 different mutational pathways for the origin of the fragile-X syndrome. Hum Mol Genet 1996;5:319-30.
    • (1996) Hum Mol Genet , vol.5 , pp. 319-330
    • Eichler, E.E.1    Macpherson, J.M.2    Murray, A.3    Jacobs, P.A.4    Chakravarti, A.5    Nelson, D.L.6
  • 197
    • 0029996850 scopus 로고    scopus 로고
    • Fragile-X founder effects and new mutations in Finland
    • Zhong N, Kajanoja E, Smits B, et al. Fragile-X founder effects and new mutations in Finland. Am J Med Genet 1996;64:226-33.
    • (1996) Am J Med Genet , vol.64 , pp. 226-233
    • Zhong, N.1    Kajanoja, E.2    Smits, B.3
  • 198
    • 0029017085 scopus 로고
    • Fragile-X gene instability - Anchoring AGGs and linked microsatellites
    • Zhong N, Yang WH, Dobkin C, Brown WT. Fragile-X gene instability - anchoring AGGs and linked microsatellites. Am J Hum Genet 1995;57:351-61.
    • (1995) Am J Hum Genet , vol.57 , pp. 351-361
    • Zhong, N.1    Yang, W.H.2    Dobkin, C.3    Brown, W.T.4
  • 199
    • 0028242797 scopus 로고
    • Simple repeat DNA is not replicated simply
    • Richards RI, Sutherland GR. Simple repeat DNA is not replicated simply. Nat Genet 1994:6;114-16.
    • (1994) Nat Genet , vol.6 , pp. 114-116
    • Richards, R.I.1    Sutherland, G.R.2
  • 200
    • 0025646208 scopus 로고
    • Eukaryotic DNA replication
    • Thommes P, Hubscher U. Eukaryotic DNA replication. Eur J Biochem 1990;194:699-712.
    • (1990) Eur J Biochem , vol.194 , pp. 699-712
    • Thommes, P.1    Hubscher, U.2
  • 201
    • 0029008288 scopus 로고
    • Hairpins are formed by the single DNA strands of the fragile X triplet repeats: Structure and biological implications
    • Chen X, Mariappan SV, Catasti P, et al. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc Natl Acad Sci USA 1995;92:5199-203.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 5199-5203
    • Chen, X.1    Mariappan, S.V.2    Catasti, P.3
  • 202
    • 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. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet 1993;4:140-2.
    • (1993) Nat Genet , vol.4 , pp. 140-142
    • Wöhrle, D.1    Hennig, I.2    Vogel, W.3    Steinbach, P.4
  • 203
  • 205
    • 0020539453 scopus 로고
    • Marker X-associated mental retardation. A study of 150 retarded males
    • Kähkönen M, Leisti J, Wilska M, Varonen S. Marker X-associated mental retardation. A study of 150 retarded males. Clin Genet 1983;23:397-404.
    • (1983) Clin Genet , vol.23 , pp. 397-404
    • Kähkönen, M.1    Leisti, J.2    Wilska, M.3    Varonen, S.4
  • 206
    • 0020614528 scopus 로고
    • Screening for fra(X)(q) in a population of mentally retarded males
    • Froster-Iskenius U, Felsch G, Schirren C, Schwinger E. Screening for fra(X)(q) in a population of mentally retarded males. Hum Genet 1983;63:153-7.
    • (1983) Hum Genet , vol.63 , pp. 153-157
    • Froster-Iskenius, U.1    Felsch, G.2    Schirren, C.3    Schwinger, E.4
  • 207
    • 4244171723 scopus 로고
    • The fragile-X marker survey: Preliminary report on the screening of suspected fragile X syndrome patients at the Fernald State School
    • Paika IJ, Lai F, McAllister NM, Miller WA. The fragile-X marker survey: preliminary report on the screening of suspected fragile X syndrome patients at the Fernald State School. Am J Hum Genet 1984;36:108S.
    • (1984) Am J Hum Genet , vol.36
    • Paika, I.J.1    Lai, F.2    McAllister, N.M.3    Miller, W.A.4
  • 208
    • 0022550486 scopus 로고
    • Frequency of the fragile X syndrome in Japanese mentally retarded males
    • Arinami T, Kondo I, Nakajima S. Frequency of the fragile X syndrome in Japanese mentally retarded males. Hum Genet 1986;73:309-12.
    • (1986) Hum Genet , vol.73 , pp. 309-312
    • Arinami, T.1    Kondo, I.2    Nakajima, S.3
  • 209
    • 0028237298 scopus 로고
    • Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-I gene in Japanese mentally retarded individuals
    • Hofstee Y, Arinami T, Hamaguchi H. Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-I gene in Japanese mentally retarded individuals. Am J Med Genet 1994;51:466-70.
    • (1994) Am J Med Genet , vol.51 , pp. 466-470
    • Hofstee, Y.1    Arinami, T.2    Hamaguchi, H.3
  • 210
    • 0022469447 scopus 로고
    • Prevalence of the fragile X syndrome in an institution for the mentally handicapped
    • Primrose DA, El-Matmati R, Boyd E, Gosden C, Newton M. Prevalence of the fragile X syndrome in an institution for the mentally handicapped. Br J Psychiatry 1986;148: 655-7.
    • (1986) Br J Psychiatry , vol.148 , pp. 655-657
    • Primrose, D.A.1    El-Matmati, R.2    Boyd, E.3    Gosden, C.4    Newton, M.5
  • 212
    • 0023774157 scopus 로고
    • The fragile X in Sicily: An epidemiological survey
    • Neri G, Sanfilippo S, Pavone L, et al. The fragile X in Sicily: an epidemiological survey. Am J Med Genet 1988;30: 665-72.
    • (1988) Am J Med Genet , vol.30 , pp. 665-672
    • Neri, G.1    Sanfilippo, S.2    Pavone, L.3
  • 213
    • 0027156021 scopus 로고
    • Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome
    • Butler MG, Singh DN. Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome. J Intellect Disabil Res 1993;37: 131-42.
    • (1993) J Intellect Disabil Res , vol.37 , pp. 131-142
    • Butler, M.G.1    Singh, D.N.2
  • 214
    • 0029893264 scopus 로고    scopus 로고
    • Frequency of fra-X-syndrome among institutionalized mentally- Retarded males in Poland
    • Mazurczak T, Bocian E, Milewski M, et al. Frequency of fra-X-syndrome among institutionalized mentally- retarded males in Poland. Am J Med Genet 1996;64:184-6.
    • (1996) Am J Med Genet , vol.64 , pp. 184-186
    • Mazurczak, T.1    Bocian, E.2    Milewski, M.3
  • 215
    • 0022606342 scopus 로고
    • Prevalence of the fragile X syndrome in mentally retarded boys in a Swedish county
    • Gustavson K, Blomquist H, Holmgren G. Prevalence of the fragile X syndrome in mentally retarded boys in a Swedish county. Am J Med Genet 1986;23:581-7.
    • (1986) Am J Med Genet , vol.23 , pp. 581-587
    • Gustavson, K.1    Blomquist, H.2    Holmgren, G.3
  • 216
    • 0023492052 scopus 로고
    • Prevalence of the fragile X syndrome in four birth cohorts of children of school age
    • Kähkönen M, Alitalo T, Airaksinen E, et al. Prevalence of the fragile X syndrome in four birth cohorts of children of school age. Hum Genet 1987;77:85-7.
    • (1987) Hum Genet , vol.77 , pp. 85-87
    • Kähkönen, M.1    Alitalo, T.2    Airaksinen, E.3
  • 217
    • 0028307307 scopus 로고
    • Prevalence of fra(X) in the county of Funen in Denmark is lower than expected
    • Tranebjaerg L, Hilling S, Jessen J, Lind D, Hansen MS. Prevalence of fra(X) in the county of Funen in Denmark is lower than expected. Am J Med Genet 1994;51:423-7.
    • (1994) Am J Med Genet , vol.51 , pp. 423-427
    • Tranebjaerg, L.1    Hilling, S.2    Jessen, J.3    Lind, D.4    Hansen, M.S.5
  • 218
    • 0027173002 scopus 로고
    • Population studies of the fragile X: A molecular approach
    • Jacobs PA, Bullman H, Macpherson J, et al. Population studies of the fragile X: a molecular approach. J Med Genet 1993;30:454-9.
    • (1993) J Med Genet , vol.30 , pp. 454-459
    • Jacobs, P.A.1    Bullman, H.2    Macpherson, J.3
  • 222
    • 0022911920 scopus 로고
    • The frequency of the fragile X chromosome among schoolchildren in Coventry
    • Webb T, Bundey S, Thake A, Todd J. The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet 1986;23:396-9.
    • (1986) J Med Genet , vol.23 , pp. 396-399
    • Webb, T.1    Bundey, S.2    Thake, A.3    Todd, J.4
  • 223
    • 0026525424 scopus 로고
    • Population screening for fragile X
    • Turner G, Robinson H, Laing S, et al. Population screening for fragile X. Lancet 1992;339:1210-13.
    • (1992) Lancet , vol.339 , pp. 1210-1213
    • Turner, G.1    Robinson, H.2    Laing, S.3
  • 224
    • 0027321236 scopus 로고
    • Antenatal screening: What constitutes benefit?
    • Mooney G, Lange M. Antenatal screening: what constitutes benefit? Soc Sci Med 1993;37:873-8.
    • (1993) Soc Sci Med , vol.37 , pp. 873-878
    • Mooney, G.1    Lange, M.2
  • 226
    • 0028366832 scopus 로고
    • Population based prenatal screening for the fragile X syndrome
    • Palomaki GE. Population based prenatal screening for the fragile X syndrome. J Med Screen 1994;1:65-72.
    • (1994) J Med Screen , vol.1 , pp. 65-72
    • Palomaki, G.E.1
  • 227
    • 0028675676 scopus 로고
    • Carrier screening for cystic fibrosis
    • Brock DJ. Carrier screening for cystic fibrosis [review]. Prenat Diagn 1994;13:1243-52.
    • (1994) Prenat Diagn , vol.13 , pp. 1243-1252
    • Brock, D.J.1
  • 228
    • 0025976184 scopus 로고
    • Clinical screening score for the fragile X (Martin-Bell) syndrome
    • Laing S, Partington M, Robinson M, Turner G. Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet 1991;38:256-9.
    • (1991) Am J Med Genet , vol.38 , pp. 256-259
    • Laing, S.1    Partington, M.2    Robinson, M.3    Turner, G.4
  • 230
    • 0025782549 scopus 로고
    • A 15-item checklist for screening mentally retarded males for the fragile X syndrome
    • Butler MG, Mangrum T, Gupta R, Singh DN. A 15-item checklist for screening mentally retarded males for the fragile X syndrome. Clin Genet 1991;39:347-54.
    • (1991) Clin Genet , vol.39 , pp. 347-354
    • Butler, M.G.1    Mangrum, T.2    Gupta, R.3    Singh, D.N.4
  • 231
    • 0026057778 scopus 로고
    • Fragile X screening program in New York State
    • Nolin SL, Snider DA, Jenkins EC, et al. Fragile X screening program in New York State. Am J Med Genet 1991;38: 251-5.
    • (1991) Am J Med Genet , vol.38 , pp. 251-255
    • Nolin, S.L.1    Snider, D.A.2    Jenkins, E.C.3
  • 233
    • 0026344223 scopus 로고
    • Genotype prediction in the fragile X syndrome
    • Hirst MC, Nakahori Y, Knight SJ, et al. Genotype prediction in the fragile X syndrome. J Med Genet 1991;28:824-9.
    • (1991) J Med Genet , vol.28 , pp. 824-829
    • Hirst, M.C.1    Nakahori, Y.2    Knight, S.J.3
  • 234
    • 0025866603 scopus 로고
    • Molecular heterogeneity of the fragile X syndrome
    • Nakahori Y, Knight SJ, Holland J, et al. Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Res 1991;19:4355-9.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4355-4359
    • Nakahori, Y.1    Knight, S.J.2    Holland, J.3
  • 235
    • 0026635021 scopus 로고
    • Experience with direct molecular diagnosis of fragile X
    • Mulley JC, Yu S, Gedeon AK, et al. Experience with direct molecular diagnosis of fragile X. J Med Genet 1992;29:368-74.
    • (1992) J Med Genet , vol.29 , pp. 368-374
    • Mulley, J.C.1    Yu, S.2    Gedeon, A.K.3
  • 236
  • 237
    • 0028793820 scopus 로고
    • Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection
    • El-Aleem AA, Bohm I, Temtamy S, et al. Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. Hum Genet 1995;96:577-84.
    • (1995) Hum Genet , vol.96 , pp. 577-584
    • El-Aleem, A.A.1    Bohm, I.2    Temtamy, S.3
  • 240
    • 0028892002 scopus 로고
    • Nonradioactive DNA diagnosis for the fragile-X syndrome in mentally-retarded Japanese males
    • Nanba E, Kohno Y, Matsuda A, et al. Nonradioactive DNA diagnosis for the fragile-X syndrome in mentally-retarded Japanese males. Brain Dev 1995;7:317-21.
    • (1995) Brain Dev , vol.7 , pp. 317-321
    • Nanba, E.1    Kohno, Y.2    Matsuda, A.3
  • 241
    • 0029926866 scopus 로고    scopus 로고
    • A PCR based test suitable for screening for fragile X syndrome among mentally retarded males
    • Haddad LA, Mingroni-Netto RC, Vianna-Morgante AM, Pena SDJ. A PCR based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet 1996;97:808-12.
    • (1996) Hum Genet , vol.97 , pp. 808-812
    • Haddad, L.A.1    Mingroni-Netto, R.C.2    Vianna-Morgante, A.M.3    Pena, S.D.J.4
  • 242
    • 0028932577 scopus 로고
    • A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci
    • Wang Q, Green E, Bobrow M, Mathew CG. A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 1995;32:170-3.
    • (1995) J Med Genet , vol.32 , pp. 170-173
    • Wang, Q.1    Green, E.2    Bobrow, M.3    Mathew, C.G.4
  • 243
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet 1992;29:794-801.
    • (1992) J Med Genet , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3    Kretz, C.4    Mandel, J.L.5
  • 244
    • 0029028295 scopus 로고
    • Rapid antibody test for fragile-X syndrome
    • Willemsen R, Mohkamsing S, Devries B, et al. Rapid antibody test for fragile-X syndrome. Lancet 1995;345:1147-8.
    • (1995) Lancet , vol.345 , pp. 1147-1148
    • Willemsen, R.1    Mohkamsing, S.2    Devries, B.3
  • 245
    • 0027256423 scopus 로고
    • Direct detection of novel expanded trinucleotide repeats in the human genome
    • Schalling M, Hudson TJ, Buetow KH, Hpusman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993;4:135-9.
    • (1993) Nat Genet , vol.4 , pp. 135-139
    • Schalling, M.1    Hudson, T.J.2    Buetow, K.H.3    Hpusman, D.E.4
  • 246
    • 0019873742 scopus 로고
    • Feasibility of fragile X chromosome prenatal diagnosis demonstrated
    • Jenkins EC, Brown WT, Duncan CJ, et al. Feasibility of fragile X chromosome prenatal diagnosis demonstrated. Lancet 1981;ii:1292.
    • (1981) Lancet , vol.2 , pp. 1292
    • Jenkins, E.C.1    Brown, W.T.2    Duncan, C.J.3
  • 247
    • 0020477963 scopus 로고
    • Prenatal diagnosis of fragile X chromosome
    • Shapiro LR, Wilmot PL, Brenholz P, et al. Prenatal diagnosis of fragile X chromosome. Lancet 1982;i:99-100.
    • (1982) Lancet , vol.1 , pp. 99-100
    • Shapiro, L.R.1    Wilmot, P.L.2    Brenholz, P.3
  • 248
    • 0029555774 scopus 로고
    • An update on fragile-X prenatal-diagnosis - End of the cytogenetic testing era
    • Jenkins EC, Houck GE, Ding XH, et al. An update on fragile-X prenatal-diagnosis - end of the cytogenetic testing era. Developmental Brain Dysfunction 1995;8:293-301.
    • (1995) Developmental Brain Dysfunction , vol.8 , pp. 293-301
    • Jenkins, E.C.1    Houck, G.E.2    Ding, X.H.3
  • 249
    • 0026095336 scopus 로고
    • Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
    • Sutherland GR, Gedeon A, Kornman L, et al. Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med 1991;325:1720-2.
    • (1991) N Engl J Med , vol.325 , pp. 1720-1722
    • Sutherland, G.R.1    Gedeon, A.2    Kornman, L.3
  • 250
    • 0028050544 scopus 로고
    • The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: Implication for prenatal diagnosis
    • Iida T, Nakahori Y, Tsutsumi O, Taketani Y, Nakagome Y. The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis. Hum Reprod 1994;9:1471-3.
    • (1994) Hum Reprod , vol.9 , pp. 1471-1473
    • Iida, T.1    Nakahori, Y.2    Tsutsumi, O.3    Taketani, Y.4    Nakagome, Y.5
  • 251
    • 0029098429 scopus 로고
    • Prenatal-diagnosis of fragile-X syndrome-(CGG)n expansion and methylation of chorionic villus samples
    • Castellvi-Bel S, Mila M, Soler A, et al. Prenatal-diagnosis of fragile-X syndrome-(CGG)n expansion and methylation of chorionic villus samples. Prenat Diagn 1995;9:801-7.
    • (1995) Prenat Diagn , vol.9 , pp. 801-807
    • Castellvi-Bel, S.1    Mila, M.2    Soler, A.3
  • 252
    • 0027437296 scopus 로고
    • Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence
    • Yamauchi M, Nagata S, Seki N, et al. Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence. Clin Genet 1993;44:169-72.
    • (1993) Clin Genet , vol.44 , pp. 169-172
    • Yamauchi, M.1    Nagata, S.2    Seki, N.3
  • 253
    • 0028338942 scopus 로고
    • Fragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic Southern blot DNA analyses of the FMR-1 gene
    • Jenkins EC, Morys I, Henderson J, et al. Fragile X induction systems in CVS cultures: effect on cytogenetic, PCR, and genomic Southern blot DNA analyses of the FMR-1 gene. Am J Med Genet 1994;51:436-42.
    • (1994) Am J Med Genet , vol.51 , pp. 436-442
    • Jenkins, E.C.1    Morys, I.2    Henderson, J.3
  • 254
    • 0026751517 scopus 로고
    • Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicates that abnormal methylation and somatic heterogeneity are established early in development
    • Devys D, Biancalana V, Rousseau F, Boue J, Mandel JL, Oberlé I. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicates that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet 1992;43:208-16.
    • (1992) Am J Med Genet , vol.43 , pp. 208-216
    • Devys, D.1    Biancalana, V.2    Rousseau, F.3    Boue, J.4    Mandel, J.L.5    Oberlé, I.6
  • 257
    • 0029080788 scopus 로고
    • RS46(DXS548) genotyping of reproductive cells: Approaching preimplantation testing of the fragile X syndrome
    • Dreesen JCFM, Geraedts JPM, Dumoulin JCM, Evers JLH, Pieters MHEC. RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile X syndrome. Hum Genet 1995;96:323-9.
    • (1995) Hum Genet , vol.96 , pp. 323-329
    • Dreesen, J.C.F.M.1    Geraedts, J.P.M.2    Dumoulin, J.C.M.3    Evers, J.L.H.4    Pieters, M.H.E.C.5
  • 259
    • 0029992499 scopus 로고    scopus 로고
    • Molecular fragile-X screening in normal-populations
    • Spence WC, Black SH, Fallon L, et al. Molecular fragile-X screening in normal-populations. Am J Med Genet 1996;64: 181-3.
    • (1996) Am J Med Genet , vol.64 , pp. 181-183
    • Spence, W.C.1    Black, S.H.2    Fallon, L.3
  • 260
    • 0029934243 scopus 로고    scopus 로고
    • Informed choice in fragile-X syndrome and its effects on prevalence
    • Robinson H, Wake S, Wright F, Laing S, Turner G. Informed choice in fragile-X syndrome and its effects on prevalence. Am J Med Genet 1996;64:198-202.
    • (1996) Am J Med Genet , vol.64 , pp. 198-202
    • Robinson, H.1    Wake, S.2    Wright, F.3    Laing, S.4    Turner, G.5
  • 261
    • 0026653192 scopus 로고
    • New York State screening program for fragile X syndrome: A progress report
    • Nolin SL, Snider DA, Jenkins EC, et al. New York State screening program for fragile X syndrome: a progress report. Am J Med Genet 1992;43:328-32.
    • (1992) Am J Med Genet , vol.43 , pp. 328-332
    • Nolin, S.L.1    Snider, D.A.2    Jenkins, E.C.3
  • 262
    • 0028918759 scopus 로고
    • Carrier diagnosis of the fragile X syndrome - A challenge in antenatal clinics
    • Ryynänen M, Kirkinen P, Mannermaa A, Saarikoski S. Carrier diagnosis of the fragile X syndrome - a challenge in antenatal clinics. Am J Obstet Gynecol 1995;172:1236-9.
    • (1995) Am J Obstet Gynecol , vol.172 , pp. 1236-1239
    • Ryynänen, M.1    Kirkinen, P.2    Mannermaa, A.3    Saarikoski, S.4
  • 263
    • 0030011780 scopus 로고    scopus 로고
    • Prenatal diagnosis of 30 fetuses at risk for fragile-X-syndrome
    • Grasso M, Perroni L, Colella S, et al. Prenatal diagnosis of 30 fetuses at risk for fragile-X-syndrome. Am J Med Genet 1996;64:187-90.
    • (1996) Am J Med Genet , vol.64 , pp. 187-190
    • Grasso, M.1    Perroni, L.2    Colella, S.3
  • 264
    • 0028113115 scopus 로고
    • Fragile X syndrome: Diagnostic and carrier testing
    • American College of Medical Genetics. Fragile X syndrome: diagnostic and carrier testing. Am J Med Genet 1994;53:380-1.
    • (1994) Am J Med Genet , vol.53 , pp. 380-381
  • 265
    • 0028362239 scopus 로고
    • Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis
    • Kaplan G, Kung M, McClure M, Cronister A. Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis. Am J Med Genet 1994;51:501-2.
    • (1994) Am J Med Genet , vol.51 , pp. 501-502
    • Kaplan, G.1    Kung, M.2    McClure, M.3    Cronister, A.4
  • 268
    • 0028362238 scopus 로고
    • Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing
    • Hagerman RJ, Wilson P, Staley LW, et al. Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am J Med Genet 1994;51:474-81.
    • (1994) Am J Med Genet , vol.51 , pp. 474-481
    • Hagerman, R.J.1    Wilson, P.2    Staley, L.W.3
  • 269
    • 0023117168 scopus 로고
    • Population genetics implications of the premutation hypothesis for the generation of the fragile X mental
    • Winter RM. Population genetics implications of the premutation hypothesis for the generation of the fragile X mental. Hum Genet 1987;75:269-71.
    • (1987) Hum Genet , vol.75 , pp. 269-271
    • Winter, R.M.1
  • 270
    • 0025349854 scopus 로고
    • Population genetic consequences of the fragile X syndrome, based on the X-inactivation imprinting model
    • Sved JA, Laird CD. Population genetic consequences of the fragile X syndrome, based on the X-inactivation imprinting model. Am J Hum Genet 1990;46:443-51.
    • (1990) Am J Hum Genet , vol.46 , pp. 443-451
    • Sved, J.A.1    Laird, C.D.2
  • 271
    • 0026547912 scopus 로고
    • Population genetics of the fragile-X syndrome: Multiallelic model for the FMR1 locus
    • Morton NE, Macpherson JN. Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA 1992;89:4215-7.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4215-4217
    • Morton, N.E.1    Macpherson, J.N.2
  • 272
    • 0028237297 scopus 로고
    • Population genetics of fragile X: A multiple allele model with variable risk of CGG repeat expansion
    • Kolehmainen K. Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion. Am J Med Genet 1994;51:428-35.
    • (1994) Am J Med Genet , vol.51 , pp. 428-435
    • Kolehmainen, K.1
  • 273
    • 0028843825 scopus 로고
    • Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome
    • Ashley AE, Sherman SL. Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. Am J Hum Genet 1995;57:1414-25.
    • (1995) Am J Hum Genet , vol.57 , pp. 1414-1425
    • Ashley, A.E.1    Sherman, S.L.2
  • 274
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population-genetics of the fragile-X syndrome
    • Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan N. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population-genetics of the fragile-X syndrome. Am J Hum Genet 1995; 57:1006-18.
    • (1995) Am J Hum Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.L.3    Khandjian, E.W.4    Morgan, N.5
  • 275
    • 0029556239 scopus 로고
    • Distribution and frequency of FMR1 CGG repeat numbers in the general-population
    • Holden JJA, Chalifoux M, Wing M, et al. Distribution and frequency of FMR1 CGG repeat numbers in the general-population. Developmental Brain Dysfunction 1995; 8:405-7.
    • (1995) Developmental Brain Dysfunction , vol.8 , pp. 405-407
    • Holden, J.J.A.1    Chalifoux, M.2    Wing, M.3
  • 277
    • 0028236037 scopus 로고
    • Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses
    • Sherman SL, Maddalena A, Howard-Peebles PN, et al. Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. Am J Med Genet 1994;51:503-6.
    • (1994) Am J Med Genet , vol.51 , pp. 503-506
    • Sherman, S.L.1    Maddalena, A.2    Howard-Peebles, P.N.3
  • 278
    • 0026893655 scopus 로고
    • Evidence of founder chromosomes in fragile X syndrome
    • Richards RI, Holman K, Friend K, et al. Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1992;1:257-60.
    • (1992) Nat Genet , vol.1 , pp. 257-260
    • Richards, R.I.1    Holman, K.2    Friend, K.3
  • 279
    • 0026894539 scopus 로고
    • Fragile X founder effect?
    • Chakravarti A. Fragile X founder effect? [news]. Nat Genet 1992;1:237-8.
    • (1992) Nat Genet , vol.1 , pp. 237-238
    • Chakravarti, A.1
  • 281
    • 0024652754 scopus 로고
    • Reporting the assessment of screening and diagnostic tests
    • Wald NJ, Cuckle HS. Reporting the assessment of screening and diagnostic tests. Br J Obstet Gynaecol 1989;96:389-96.
    • (1989) Br J Obstet Gynaecol , vol.96 , pp. 389-396
    • Wald, N.J.1    Cuckle, H.S.2
  • 282
    • 0030481363 scopus 로고    scopus 로고
    • Established markers in second trimester maternal serum
    • Cuckle H. Established markers in second trimester maternal serum. Early Hum Dev 1996 Ss47;s27-9.
    • (1996) Early Hum Dev , vol.SS47
    • Cuckle, H.1
  • 284
    • 0024491242 scopus 로고
    • Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis
    • Canadian Colaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis. Lancet 1989;i:1-6.
    • (1989) Lancet , vol.1 , pp. 1-6
  • 285
    • 0024522992 scopus 로고
    • The safety and efficacy of chorionic villus sampling for early-prenatal diagnosis of cytogenetic abnormalities
    • Rhoads GG, Jackson LG, Schlesselman SA, et al. The safety and efficacy of chorionic villus sampling for early-prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989;320:609-17.
    • (1989) N Engl J Med , vol.320 , pp. 609-617
    • Rhoads, G.G.1    Jackson, L.G.2    Schlesselman, S.A.3
  • 286
    • 0025767956 scopus 로고
    • Medical Research Council European trial of chorionic villus sampling
    • MRC Working Party on the Evaluation of Chorionic Villus Sampling. Medical Research Council European trial of chorionic villus sampling. Lancet 1991:337:1491-9.
    • (1991) Lancet , vol.337 , pp. 1491-1499
  • 287
    • 0026462629 scopus 로고
    • Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling
    • Smidt-Jensen S, Permin M, Philip J, et al. Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet 1992;340: 1237-44.
    • (1992) Lancet , vol.340 , pp. 1237-1244
    • Smidt-Jensen, S.1    Permin, M.2    Philip, J.3
  • 288
    • 0027385589 scopus 로고
    • Randomised trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis
    • Ammala P, Hilesmaa VK, Liukkonben S, Saisto T, Teramo K, von Koskull H. Randomised trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis. Prenat Diagn 1993;13: 919-27.
    • (1993) Prenat Diagn , vol.13 , pp. 919-927
    • Ammala, P.1    Hilesmaa, V.K.2    Liukkonben, S.3    Saisto, T.4    Teramo, K.5    Von Koskull, H.6
  • 289
    • 0030051512 scopus 로고    scopus 로고
    • Limb defects and chorionic villus sampling: Results from an international registry, 1992-94
    • Froster UG, Jackson L. Limb defects and chorionic villus sampling: results from an international registry, 1992-94. Lancet 1996;347:489-94.
    • (1996) Lancet , vol.347 , pp. 489-494
    • Froster, U.G.1    Jackson, L.2
  • 291
    • 0028838290 scopus 로고
    • Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counsellors
    • McConkie-Rosell A, Robinson H, Wake S, Staley LW, Heller K, Cronister A. Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counsellors. Am J Med Genet 1995;59:426-30.
    • (1995) Am J Med Genet , vol.59 , pp. 426-430
    • McConkie-Rosell, A.1    Robinson, H.2    Wake, S.3    Staley, L.W.4    Heller, K.5    Cronister, A.6
  • 292
    • 0003628081 scopus 로고
    • London: Nuffield Council
    • Nuffield Council on Bioethics. Genetic screening: ethical issues. London: Nuffield Council, 1993.
    • (1993) Genetic Screening: Ethical Issues
  • 294
    • 0028879837 scopus 로고
    • Cost effectiveness of antenatal screening for cystic fibrosis
    • Cuckle HS, Richardson GA, Sheldon TA, Quirke P. Cost effectiveness of antenatal screening for cystic fibrosis. BMJ 1995;311:1460-3.
    • (1995) BMJ , vol.311 , pp. 1460-1463
    • Cuckle, H.S.1    Richardson, G.A.2    Sheldon, T.A.3    Quirke, P.4
  • 295
    • 0029767849 scopus 로고    scopus 로고
    • Antenatal screening for cystic fibrosis
    • Cuckle H, Quirke P, Sehmi I, et al. Antenatal screening for cystic fibrosis. BrJ Obstet Gynaecol 1996;103:795-9.
    • (1996) BrJ Obstet Gynaecol , vol.103 , pp. 795-799
    • Cuckle, H.1    Quirke, P.2    Sehmi, I.3
  • 296
    • 0025906565 scopus 로고
    • Appraisal of a new scheme for prenatal screening for Down's syndrome
    • Sheldon TA, Simpson J. Appraisal of a new scheme for prenatal screening for Down's syndrome. BMJ 1991;302: 1133-6.
    • (1991) BMJ , vol.302 , pp. 1133-1136
    • Sheldon, T.A.1    Simpson, J.2
  • 297
    • 0027320802 scopus 로고
    • An economic appraisal of alternative prenatal screening programmes for Down's syndrome
    • Shackley P, McGuire A, Boyd PA, et al. An economic appraisal of alternative prenatal screening programmes for Down's syndrome. J Publ Health Med 1993;15:175-84.
    • (1993) J Publ Health Med , vol.15 , pp. 175-184
    • Shackley, P.1    McGuire, A.2    Boyd, P.A.3
  • 298
    • 0028366829 scopus 로고
    • Implementation of an antenatal serum screening programme for Down's syndrome in two districts (Brighton and Eastbourne)
    • Piggott M, Wilkinson P, Bennett J. Implementation of an antenatal serum screening programme for Down's syndrome in two districts (Brighton and Eastbourne). J Med Screen 1994;1:45-9.
    • (1994) J Med Screen , vol.1 , pp. 45-49
    • Piggott, M.1    Wilkinson, P.2    Bennett, J.3
  • 299
    • 84971588867 scopus 로고
    • Decision analysis for medical managers - Assessment of screening tests
    • Thornton J, Lilford, RJ. Decision analysis for medical managers - assessment of screening tests. BMJ 1995;310: 791-4.
    • (1995) BMJ , vol.310 , pp. 791-794
    • Thornton, J.1    Lilford, R.J.2
  • 300
    • 0004027671 scopus 로고
    • Leeds: Department of Health
    • NHS Central Research and Development Committee. The genetics of common diseases. Leeds: Department of Health, 1995.
    • (1995) The Genetics of Common Diseases


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