메뉴 건너뛰기




Volumn 121 B, Issue 1, 2003, Pages 119-127

Clinical features of boys with fragile X premutations and intermediate alleles

Author keywords

Behavioural phenotype; Child; Dysmorphology; FMR protein; Fragile X intermediate allele; Fragile X premutation

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CHILD; CHILD BEHAVIOR; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EVALUATION; FRAGILE X SYNDROME; GENE MUTATION; GENE REPLICATION; HAIR ROOT; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE REPEAT; PHENOTYPE; PHYSICAL PARAMETERS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0041819618     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.20030     Document Type: Article
Times cited : (150)

References (46)
  • 4
    • 0033647053 scopus 로고    scopus 로고
    • FMR1 gene and fragile X syndrome
    • Bardoni B, Mandel JL, Fisch GS. 2000. FMR1 gene and fragile X syndrome [Review]. Am J Med Genet 97(2):144-152.
    • (2000) Am J Med Genet , vol.97 , Issue.2 , pp. 144-152
    • Bardoni, B.1    Mandel, J.L.2    Fisch, G.S.3
  • 5
    • 0022142647 scopus 로고
    • Does the autistic child have a theory of mind?
    • Baron-Cohen S, Leslie AM, Frith U. 1985. Does the autistic child have a theory of mind? Cognition 21:37-46.
    • (1985) Cognition , vol.21 , pp. 37-46
    • Baron-Cohen, S.1    Leslie, A.M.2    Frith, U.3
  • 7
    • 0002402028 scopus 로고
    • Rating scales for use in drug studies with children
    • Pharmacotherapy of children
    • Conners CK. 1973. Rating scales for use in drug studies with children. Psychopharmacol Bull (Special Issue, Pharmacotherapy of children):24-84.
    • (1973) Psychopharmacol Bull , Issue.SPEC. ISSUE , pp. 24-84
    • Conners, C.K.1
  • 18
    • 0022587515 scopus 로고
    • Speech disturbances (cluttering) in mildly impaired males with Martin Bell/Fragile X Syndrome
    • Hanson DN, Jackson A, Hagerman R. 1986. Speech disturbances (cluttering) in mildly impaired males with Martin Bell/Fragile X Syndrome. Am J Med 23:195-206.
    • (1986) Am J Med , vol.23 , pp. 195-206
    • Hanson, D.N.1    Jackson, A.2    Hagerman, R.3
  • 19
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG reat number in intermediate-length and premutation carriers
    • Kenneson A, Zhang F, Hagedorn CH, Warren ST. 2001 Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG reat number in intermediate-length and premutation carriers. Hum Mol Genet 10(14):1449-1454.
    • (2001) Hum Mol Genet , vol.10 , Issue.14 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 20
    • 0029953895 scopus 로고    scopus 로고
    • Tissue-specific methylation differences and cognitive function in fragile X premutation females
    • Krekewich K, Humphries T, Ray PN, Teshima IE. 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
    • Krekewich, K.1    Humphries, T.2    Ray, P.N.3    Teshima, I.E.4
  • 21
    • 0028237294 scopus 로고
    • Transmitting males and carrier females in fragile X - Revisited
    • Loesch DZ, Hay DA, Mulley J. 1994. Transmitting males and carrier females in fragile X - Revisited. Am J Med Genet 51:392-399.
    • (1994) Am J Med Genet , vol.51 , pp. 392-399
    • Loesch, D.Z.1    Hay, D.A.2    Mulley, J.3
  • 22
    • 0034094215 scopus 로고    scopus 로고
    • Advances in research on the fragile X syndrome
    • Mazzocco MM. 2000. Advances in research on the fragile X syndrome [Review]. Ment Retard Dev Disabil Res Rev 6(2):96-106.
    • (2000) Ment Retard Dev Disabil Res Rev , vol.6 , Issue.2 , pp. 96-106
    • Mazzocco, M.M.1
  • 24
    • 0017033821 scopus 로고
    • A modified card sorting test sensitive to frontal lobe deficits
    • Nelson HE. 1976. A modified card sorting test sensitive to frontal lobe deficits. Cortex 12:313-324.
    • (1976) Cortex , vol.12 , pp. 313-324
    • Nelson, H.E.1
  • 26
    • 0042571767 scopus 로고    scopus 로고
    • FMR1 protein studies and animal model for fragile X syndrome
    • Hagerman RJ, Cronister A, editors. Baltimore: Johns Hopkins University Press
    • Oostra B. 1996. FMR1 protein studies and animal model for fragile X syndrome. In: Fragile X syndrome. Diagnosis, treatment and research. Hagerman RJ, Cronister A, editors. Baltimore: Johns Hopkins University Press.
    • (1996) Fragile X Syndrome. Diagnosis, Treatment and Research
    • Oostra, B.1
  • 27
    • 0023483406 scopus 로고
    • A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with non-specific mental retardation
    • Paul R, Dykens E, Watson M. 1987. A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with non-specific mental retardation. J Autism Dev Dis 17:457-468.
    • (1987) J Autism Dev Dis , vol.17 , pp. 457-468
    • Paul, R.1    Dykens, E.2    Watson, M.3
  • 32
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. 2000b. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the 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    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6
  • 34
    • 0028814487 scopus 로고    scopus 로고
    • Fragile X syndrome
    • Turk J. 1996. Fragile X syndrome. Arch Dis Child 75:3-5.
    • (1996) Arch Dis Child , vol.75 , pp. 3-5
    • Turk, J.1
  • 35
    • 0032395773 scopus 로고    scopus 로고
    • Fragile X syndrome and attentional deficits
    • Turk J. 1998. Fragile X syndrome and attentional deficits. J Appl Res Intellect Disabil 11:175-191.
    • (1998) J Appl Res Intellect Disabil , vol.11 , pp. 175-191
    • Turk, J.1
  • 36
    • 0000501087 scopus 로고    scopus 로고
    • Fragile X syndrome, autism and autistic features
    • Turk J, Graham P. 1997. Fragile X syndrome, autism and autistic features. Autism 1:175-197.
    • (1997) Autism , vol.1 , pp. 175-197
    • Turk, J.1    Graham, P.2
  • 37
    • 0034030925 scopus 로고    scopus 로고
    • Sensory impairment & head circumference in fragile X syndrome, Down syndrome and idiopathic intellectual disability
    • Turk J, Patton M. 2000. Sensory impairment & head circumference in fragile X syndrome, Down syndrome and idiopathic intellectual disability. J Intellect Dev Disabil 25:59-68.
    • (2000) J Intellect Dev Disabil , vol.25 , pp. 59-68
    • Turk, J.1    Patton, M.2
  • 45
    • 0019257241 scopus 로고
    • The MRC handicaps, behaviour & skills (HBS) schedule
    • S.285
    • Wing L. 1980. The MRC handicaps, behaviour & skills (HBS) schedule. Acta Psychiatr Scand 62(S.285):241-248.
    • (1980) Acta Psychiatr Scand , vol.62 , pp. 241-248
    • Wing, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.