메뉴 건너뛰기




Volumn 64, Issue 1, 1996, Pages 191-195

Prenatal diagnosis and carrier screening for fragile X by PCR

Author keywords

fragile X syndrome; genetic screening; mental retardation; prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DNA DETERMINATION; FEMALE; FRAGILE X SYNDROME; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL;

EID: 0029934242     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<191::AID-AJMG34>3.0.CO;2-G     Document Type: Article
Times cited : (61)

References (25)
  • 1
    • 0027032397 scopus 로고
    • The Fragile X Syndrome
    • Friedmann T (ed): San Diego: Academic Press
    • Brown WT, Jenkins EC (1992): The Fragile X Syndrome. In Friedmann T (ed): "Molecular Genetic Medicine, Vol. II." San Diego: Academic Press, pp 39-66.
    • (1992) Molecular Genetic Medicine, Vol. II , vol.2 , pp. 39-66
    • Brown, W.T.1    Jenkins, E.C.2
  • 3
    • 2542605684 scopus 로고
    • Molecular Analysis of Fragile X Syndrome
    • Cracopoli NC, Haines JL, Korf BR et al. (eds): New York: Wiley
    • Brown WT (1994): Molecular Analysis of Fragile X Syndrome. In Cracopoli NC, Haines JL, Korf BR et al. (eds): "Current Protocols in Human Genetics." New York: Wiley, pp 9.5.1-9.5.14.
    • (1994) Current Protocols in Human Genetics
    • Brown, W.T.1
  • 5
    • 0028365522 scopus 로고
    • Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
    • Chong SS, Eichler EE, Nelson DL, Hughes MR (1994): Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526.
    • (1994) Am J Med Genet , vol.51 , pp. 522-526
    • Chong, S.S.1    Eichler, E.E.2    Nelson, D.L.3    Hughes, M.R.4
  • 17
    • 0028936072 scopus 로고
    • An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene
    • Qan F, Zonathan J, Gunter K, Peterson KL, Magenis RE, Popovich W (1995): An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. AJHG 56:1042-1051.
    • (1995) AJHG , vol.56 , pp. 1042-1051
    • Qan, F.1    Zonathan, J.2    Gunter, K.3    Peterson, K.L.4    Magenis, R.E.5    Popovich, W.6
  • 19
    • 25944449070 scopus 로고
    • Spontaneous/non-induced fragile X chromosomes in routine amniotic fluid cell culture: No clinical significance
    • Abs 1680
    • Shapiro LR, Wilmot PL (1994): Spontaneous/non-induced fragile X chromosomes in routine amniotic fluid cell culture: No clinical significance. Am J Hum Genet 55:A286 (Abs 1680).
    • (1994) Am J Hum Genet , vol.55
    • Shapiro, L.R.1    Wilmot, P.L.2
  • 20
    • 25944465314 scopus 로고
    • Non-induced fragile X chromosome detected in routine amniotic fluid cell culture: Determination of significance
    • Abs 1676
    • Shapiro LR, Wilmot PL, Marinello MJ (1995): Non-induced fragile X chromosome detected in routine amniotic fluid cell culture: Determination of significance. Am J Hum Genet 57:A288 (Abs 1676).
    • (1995) Am J Hum Genet , vol.57
    • Shapiro, L.R.1    Wilmot, P.L.2    Marinello, M.J.3
  • 21
    • 0028236525 scopus 로고
    • Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome
    • Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G (1994): Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell 77:33-39.
    • (1994) Cell , vol.77 , pp. 33-39
    • Siomi, H.1    Choi, M.2    Siomi, M.C.3    Nussbaum, R.L.4    Dreyfuss, G.5
  • 23
    • 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 (1995): A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 32:170-173.
    • (1995) J Med Genet , vol.32 , pp. 170-173
    • Wang, Q.1    Green, E.2    Bobrow, M.3    Mathew, C.G.4
  • 24
    • 84942947953 scopus 로고
    • Advances in molecular analysis of fragile X syndrome
    • Warren ST, Nelson DL (1994): Advances in molecular analysis of fragile X syndrome. JAMA 271:536-542.
    • (1994) JAMA , vol.271 , pp. 536-542
    • Warren, S.T.1    Nelson, D.L.2
  • 25
    • 0030008960 scopus 로고    scopus 로고
    • Fragile X "gray zone" alleles: AGG patterns, expansion risks and associated haplotypes
    • Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown WT (1996): Fragile X "gray zone" alleles: AGG patterns, expansion risks and associated haplotypes. Am J Med Genet 64:261-265.
    • (1996) Am J Med Genet , vol.64 , pp. 261-265
    • Zhong, N.1    Ju, W.2    Pietrofesa, J.3    Wang, D.4    Dobkin, C.5    Brown, W.T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.