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Volumn 71, Issue 3, 2010, Pages 215-217

Premature ovarian failure and FMR1 gene mutations: An update;Insuffisance ovarienne prématurée et mutations du gène FMR1: Avancées récentes

Author keywords

Fragile X premutations; FRAXA premutation; Premature ovarian failure

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 77952742678     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2010.02.009     Document Type: Article
Times cited : (17)

References (25)
  • 1
    • 0029097960 scopus 로고
    • Fragile X premutations in familial premature ovarian failure
    • Conway G.S., Hettiarachchi S., Murray A., Jacobs P.A. Fragile X premutations in familial premature ovarian failure. Lancet 1995, 346:309-310.
    • (1995) Lancet , vol.346 , pp. 309-310
    • Conway, G.S.1    Hettiarachchi, S.2    Murray, A.3    Jacobs, P.A.4
  • 8
    • 44049108271 scopus 로고    scopus 로고
    • The fragile X continuum: new advances and perspectives
    • Cornish K., Turk J., Hagerman R. The fragile X continuum: new advances and perspectives. J Intellect Disabil Res 2008, 52:469-482.
    • (2008) J Intellect Disabil Res , vol.52 , pp. 469-482
    • Cornish, K.1    Turk, J.2    Hagerman, R.3
  • 9
    • 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., Wohrle D., Just W., Vogel W., 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, 2:2043-2050.
    • (1993) Hum Mol Genet , vol.2 , pp. 2043-2050
    • Bachner, D.1    Manca, A.2    Steinbach, P.3    Wohrle, D.4    Just, W.5    Vogel, W.6
  • 10
    • 0031809893 scopus 로고    scopus 로고
    • Fragile X premutation screening in women with premature ovarian failure
    • Conway G.S., Payne N.N., Webb J., Murray A., Jacobs P.A. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998, 13:1184-1187.
    • (1998) Hum Reprod , vol.13 , pp. 1184-1187
    • Conway, G.S.1    Payne, N.N.2    Webb, J.3    Murray, A.4    Jacobs, P.A.5
  • 14
    • 0041622691 scopus 로고    scopus 로고
    • Fragile X premutation in women with sporadic premature ovarian failure in Slovenia
    • Gersak K., Meden-Vrtovec H., Peterlin B. Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Hum Reprod 2003, 18:1637-1640.
    • (2003) Hum Reprod , vol.18 , pp. 1637-1640
    • Gersak, K.1    Meden-Vrtovec, H.2    Peterlin, B.3
  • 16
    • 34247850779 scopus 로고    scopus 로고
    • Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
    • Miano M.G., Laperuta C., Chiurazzi P., D'Urso M., Ursini M.V. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report. BMC Med Genet 2007, 8:18.
    • (2007) BMC Med Genet , vol.8 , pp. 18
    • Miano, M.G.1    Laperuta, C.2    Chiurazzi, P.3    D'Urso, M.4    Ursini, M.V.5
  • 17
    • 27644465583 scopus 로고    scopus 로고
    • A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome
    • Corrigan E.C., Raygada M.J., Vanderhoof V.H., Nelson L.M. A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. Fertil Steril 2005, 84:1508.
    • (2005) Fertil Steril , vol.84 , pp. 1508
    • Corrigan, E.C.1    Raygada, M.J.2    Vanderhoof, V.H.3    Nelson, L.M.4
  • 18
    • 0030346496 scopus 로고    scopus 로고
    • Ovarian function in fragile X carriers
    • Fryns J.P. Ovarian function in fragile X carriers. Genet Couns 1996, 7:245-247.
    • (1996) Genet Couns , vol.7 , pp. 245-247
    • Fryns, J.P.1
  • 19
    • 0032962890 scopus 로고    scopus 로고
    • Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women
    • Murray A., Webb J., MacSwiney F., Shipley E.L., Morton N.E., Conway G.S. Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. Hum Reprod 1999, 14:1217-1218.
    • (1999) Hum Reprod , vol.14 , pp. 1217-1218
    • Murray, A.1    Webb, J.2    MacSwiney, F.3    Shipley, E.L.4    Morton, N.E.5    Conway, G.S.6
  • 20
    • 44449134920 scopus 로고    scopus 로고
    • Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study
    • Rohr J., Allen E.G., Charen K., Giles J., He W., Dominguez C., et al. Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: a preliminary study. Hum Reprod 2008, 23:1220-1225.
    • (2008) Hum Reprod , vol.23 , pp. 1220-1225
    • Rohr, J.1    Allen, E.G.2    Charen, K.3    Giles, J.4    He, W.5    Dominguez, C.6
  • 21
    • 4544294975 scopus 로고    scopus 로고
    • Evidence of early ovarian aging in fragile X premutation carriers
    • Welt C.K., Smith P.C., Taylor A.E. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab 2004, 89(9):4569-4574.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.9 , pp. 4569-4574
    • Welt, C.K.1    Smith, P.C.2    Taylor, A.E.3
  • 22
    • 0034128910 scopus 로고    scopus 로고
    • Reproductive and menstrual history of females with fragile X expansions
    • Murray A., Ennis S., MacSwiney F., Webb J., Morton N.E. Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet 2000, 8:247-252.
    • (2000) Eur J Hum Genet , vol.8 , pp. 247-252
    • Murray, A.1    Ennis, S.2    MacSwiney, F.3    Webb, J.4    Morton, N.E.5
  • 23
    • 0033926935 scopus 로고    scopus 로고
    • No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers
    • Murray A., Ennis S., Morton N. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. Am J Hum Genet 2000, 67:253-254.
    • (2000) Am J Hum Genet , vol.67 , pp. 253-254
    • Murray, A.1    Ennis, S.2    Morton, N.3
  • 24
    • 75449113201 scopus 로고    scopus 로고
    • X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers
    • Spath M.A., Nillesen W.N., Smits A.P., Feuth T.B., Braat D.D., van Kessel A.G., et al. X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers. Am J Med Genet A 2010, 152A:387-393.
    • (2010) Am J Med Genet A , vol.152 A , pp. 387-393
    • Spath, M.A.1    Nillesen, W.N.2    Smits, A.P.3    Feuth, T.B.4    Braat, D.D.5    van Kessel, A.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.