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Volumn 27, Issue 7, 2012, Pages 2224-2232

Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus

Author keywords

aneuploidy; epidemiology; FMR1; Fragile X; trisomy

Indexed keywords

ALLELE; ANEUPLOIDY; ARTICLE; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENOTYPE; HUMAN; LIVE BIRTH; MAJOR CLINICAL STUDY; SPONTANEOUS ABORTION; TRISOMIC PREGNANCY; TRISOMIC SPONTANEOUS ABORTION; TRISOMY; TRISOMY 16;

EID: 84863605695     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des098     Document Type: Article
Times cited : (8)

References (36)
  • 3
    • 0004030798 scopus 로고    scopus 로고
    • American College of Medical Genetics, (2006, date last accessed)
    • American College of Medical Genetics. Standards and Guidelines for Clinical Genetics Laboratories, 2006. http://www.acmg.net/Pages/ACMG-Activities/ stds-2002/fx.htm (2006, date last accessed).
    • (2006) Standards and Guidelines for Clinical Genetics Laboratories
  • 4
    • 77951134172 scopus 로고    scopus 로고
    • Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure
    • Bennett CE, Conway GS, Macpherson JN, Jacobs PA, Murray A. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum Reprod 2010;25:1335-1338.
    • (2010) Hum Reprod , vol.25 , pp. 1335-1338
    • Bennett, C.E.1    Conway, G.S.2    MacPherson, J.N.3    Jacobs, P.A.4    Murray, A.5
  • 5
    • 33645314905 scopus 로고    scopus 로고
    • Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • Bodega B, Bione S, Dalpra L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 2006;21:952-957.
    • (2006) Hum Reprod , vol.21 , pp. 952-957
    • Bodega, B.1    Bione, S.2    Dalpra, L.3    Toniolo, D.4    Ornaghi, F.5    Vegetti, W.6    Ginelli, E.7    Marozzi, A.8
  • 7
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • DOI 10.1007/s00439-005-1326-8
    • Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005;117:376-382. (Pubitemid 41194564)
    • (2005) Human Genetics , vol.117 , Issue.4 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 9
    • 0344668735 scopus 로고    scopus 로고
    • n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
    • DOI 10.1093/hmg/ddg331
    • Chen LS, Tassone F, Sahota P, Hagerman PJ. The (CGG)n repeat element within the 5 untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum Mol Genet 2003;12:3067-3074. (Pubitemid 37508879)
    • (2003) Human Molecular Genetics , vol.12 , Issue.23 , pp. 3067-3074
    • Chen, L.-S.1    Tassone, F.2    Sahota, P.3    Hagerman, P.J.4
  • 10
    • 0031809893 scopus 로고    scopus 로고
    • Fragile X premutation screening in women with premature ovarian failure
    • DOI 10.1093/humrep/13.5.1184
    • Conway GS, Payne NN, Webb J, Murray A, Jacobs PA. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998;13:1184-1187. (Pubitemid 28279167)
    • (1998) Human Reproduction , vol.13 , Issue.5 , pp. 1184-1187
    • Conway, G.S.1    Payne, N.N.2    Webb, J.3    Murray, A.4    Jacobs, P.A.5
  • 11
    • 0035746538 scopus 로고    scopus 로고
    • FMR1 and the fragile X syndrome: Human genome epidemiology review
    • Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001;3:359-371.
    • (2001) Genet Med , vol.3 , pp. 359-371
    • Crawford, D.C.1    Acuna, J.M.2    Sherman, S.L.3
  • 12
    • 31344455020 scopus 로고    scopus 로고
    • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
    • DOI 10.1038/sj.ejhg.5201510, PII 5201510
    • Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet 2006;14:253-255. (Pubitemid 43135871)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.2 , pp. 253-255
    • Ennis, S.1    Ward, D.2    Murray, A.3
  • 14
    • 77649278097 scopus 로고    scopus 로고
    • Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve
    • Gleicher N, Weghofer A, Oktay K, Barad D. Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve. Reprod Biomed Online 2009;19:385-390.
    • (2009) Reprod Biomed Online , vol.19 , pp. 385-390
    • Gleicher, N.1    Weghofer, A.2    Oktay, K.3    Barad, D.4
  • 18
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001;10:1449-1454. (Pubitemid 32684886)
    • (2001) Human Molecular Genetics , vol.10 , Issue.14 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 21
    • 79957454324 scopus 로고    scopus 로고
    • Trisomic pregnancy and elevated FSH: Implications for the oocyte pool hypothesis
    • Kline JK, Kinney AM, Levin B, Kelly AC, Ferin M, Warburton D. Trisomic pregnancy and elevated FSH: implications for the oocyte pool hypothesis. Hum Reprod 2010;26:1537-1550.
    • (2010) Hum Reprod , vol.26 , pp. 1537-1550
    • Kline, J.K.1    Kinney, A.M.2    Levin, B.3    Kelly, A.C.4    Ferin, M.5    Warburton, D.6
  • 22
    • 77957178622 scopus 로고
    • Polychotomous logistic regression methods for matched case-control studies with multiple case or control groups
    • Levin B. Polychotomous logistic regression methods for matched case-control studies with multiple case or control groups. Am J Epidemiol 1988;128:446.
    • (1988) Am J Epidemiol , vol.128 , pp. 446
    • Levin, B.1
  • 23
    • 34147169493 scopus 로고    scopus 로고
    • Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
    • DOI 10.1136/jmg.2006.043950
    • Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J Med Genet 2007;44:200-204. (Pubitemid 46580529)
    • (2007) Journal of Medical Genetics , vol.44 , Issue.3 , pp. 200-204
    • Loesch, D.Z.1    Bui, Q.M.2    Huggins, R.M.3    Mitchell, R.J.4    Hagerman, R.J.5    Tassone, F.6
  • 26
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    • Primerano B, Tassone F, Hagerman RJ, Hagerman P, Amaldi F, Bagni C. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002;8:1482-1488. (Pubitemid 36009019)
    • (2002) RNA , vol.8 , Issue.12 , pp. 1482-1488
    • Primerano, B.1    Tassone, F.2    Hagerman, R.J.3    Hagerman, P.4    Amaldi, F.5    Bagni, C.6
  • 28
    • 67651083488 scopus 로고    scopus 로고
    • Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency
    • Streuli I, Fraisse T, Ibecheole V, Moix I, Morris MA, de Ziegler D. Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertil Steril 2009;92:464-470.
    • (2009) Fertil Steril , vol.92 , pp. 464-470
    • Streuli, I.1    Fraisse, T.2    Ibecheole, V.3    Moix, I.4    Morris, M.A.5    De Ziegler, D.6
  • 30
    • 84856604388 scopus 로고    scopus 로고
    • FMR1 and the continuum of primary ovarian insufficiency
    • Sullivan SD, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med 2011;29:299-307.
    • (2011) Semin Reprod Med , vol.29 , pp. 299-307
    • Sullivan, S.D.1    Welt, C.2    Sherman, S.3
  • 33
    • 0034969680 scopus 로고    scopus 로고
    • Are elevated FSH concentrations in the pre-conceptional period a risk factor for Down's syndrome pregnancies?
    • van Montfrans JM, Lambalk CB, van Hooff MH, van Vugt JM. Are elevated FSH concentrations in the pre-conceptional period a risk factor for Down's syndrome pregnancies? Hum Reprod 2001; 16:1270-1273. (Pubitemid 32544703)
    • (2001) Human Reproduction , vol.16 , Issue.6 , pp. 1270-1273
    • Van Montfrans, J.M.1    Lambalk, C.B.2    Van Hooff, M.H.A.3    Van Vugt, J.M.G.4
  • 34
    • 68249098639 scopus 로고    scopus 로고
    • Skewed X chromosome inactivation and trisomic spontaneous abortion: No association
    • Warburton D, Kline J, Kinney A, Yu CY, Levin B, Brown S. Skewed X chromosome inactivation and trisomic spontaneous abortion: no association. Am J Hum Genet 2009;85:179-193.
    • (2009) Am J Hum Genet , vol.85 , pp. 179-193
    • Warburton, D.1    Kline, J.2    Kinney, A.3    Yu, C.Y.4    Levin, B.5    Brown, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.