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Volumn 92, Issue 2, 2009, Pages 464-470

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency

Author keywords

FMR1 gene; Fragile X syndrome; intermediate allele; occult primary ovarian insufficiency; premature ovarian failure; premutation

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; FEMALE INFERTILITY; FMR1 GENE; GENE; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; OVARY FUNCTION; OVARY HYPERSTIMULATION; OVARY INSUFFICIENCY; PRIORITY JOURNAL; REPRODUCTION;

EID: 67651083488     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.07.007     Document Type: Article
Times cited : (71)

References (46)
  • 2
    • 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 A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., 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 65 (1991) 905-914
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 3
    • 33745620229 scopus 로고    scopus 로고
    • ACOG committee opinion. No. 338: Screening for fragile X syndrome
    • American College of Obstetricians and Gynecologists Committee on Genetics
    • American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. No. 338: Screening for fragile X syndrome. Obstet Gynecol 107 (2006) 1483-1485
    • (2006) Obstet Gynecol , vol.107 , pp. 1483-1485
  • 4
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
    • Fu Y.H., Kuhl D.P., Pizzuti A., Pieretti M., Sutcliffe J.S., Richards S., et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67 (1991) 1047-1058
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5    Richards, S.6
  • 6
    • 27544439901 scopus 로고    scopus 로고
    • Expansion of an intermediate allele of the FMR1 gene in only two generations
    • Zuñiga A., Juan J., Mila M., and Guerrero A. Expansion of an intermediate allele of the FMR1 gene in only two generations. Clin Genet 68 (2005) 471-473
    • (2005) Clin Genet , vol.68 , pp. 471-473
    • Zuñiga, A.1    Juan, J.2    Mila, M.3    Guerrero, A.4
  • 8
    • 0035746538 scopus 로고    scopus 로고
    • FMR1 and the fragile X syndrome: human genome epidemiology review
    • Crawford D.C., Acuña J.M., and Sherman S.L. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 3 (2001) 359-371
    • (2001) Genet Med , vol.3 , pp. 359-371
    • Crawford, D.C.1    Acuña, J.M.2    Sherman, S.L.3
  • 9
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252 (1991) 1097-1102
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberle, I.1    Rousseau, F.2    Heitz, D.3    Kretz, C.4    Devys, D.5    Hanauer, A.6
  • 12
    • 0033515496 scopus 로고    scopus 로고
    • Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data
    • Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., Holden J.J., Yang K.T., Lee C., et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am J Med Genet 83 (1999) 322-325
    • (1999) Am J Med Genet , vol.83 , pp. 322-325
    • Allingham-Hawkins, D.J.1    Babul-Hirji, R.2    Chitayat, D.3    Holden, J.J.4    Yang, K.T.5    Lee, C.6
  • 14
    • 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., and Jacobs P.A. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 13 (1998) 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
  • 15
    • 0031857007 scopus 로고    scopus 로고
    • Studies of FRAXA and FRAXE in women with premature ovarian failure
    • Murray A., Webb J., Grimley S., Conway G., and Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet 35 (1998) 637-640
    • (1998) J Med Genet , vol.35 , pp. 637-640
    • Murray, A.1    Webb, J.2    Grimley, S.3    Conway, G.4    Jacobs, P.5
  • 16
    • 0041622691 scopus 로고    scopus 로고
    • Fragile X premutation in women with sporadic premature ovarian failure in Slovenia
    • Gersak K., Meden-Vrtovec H., and Peterlin B. Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Hum Reprod 18 (2003) 1637-1640
    • (2003) Hum Reprod , vol.18 , pp. 1637-1640
    • Gersak, K.1    Meden-Vrtovec, H.2    Peterlin, B.3
  • 17
    • 31344455020 scopus 로고    scopus 로고
    • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
    • Ennis S., Ward D., and Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet 14 (2006) 253-255
    • (2006) Eur J Hum Genet , vol.14 , pp. 253-255
    • Ennis, S.1    Ward, D.2    Murray, A.3
  • 18
    • 0033515674 scopus 로고    scopus 로고
    • Menstrual disorders and endocrine profiles in fragile X carriers prior to 40 years of age: a pilot study
    • Braat D.D., Smits A.P., and Thomas C.M. Menstrual disorders and endocrine profiles in fragile X carriers prior to 40 years of age: a pilot study. Am J Med Genet 83 (1999) 327-328
    • (1999) Am J Med Genet , vol.83 , pp. 327-328
    • Braat, D.D.1    Smits, A.P.2    Thomas, C.M.3
  • 19
    • 0034128910 scopus 로고    scopus 로고
    • Reproductive and menstrual history of females with fragile X expansions
    • Murray A., Ennis S., MacSwiney F., Webb J., and Morton N.E. Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet 8 (2000) 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
  • 20
    • 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., and Conway G.S. Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. Hum Reprod 14 (1999) 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
  • 21
    • 0035104929 scopus 로고    scopus 로고
    • Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
    • Hundscheid R.D., Braat D.D., Kiemeney L.A., Smits A.P., and Thomas C.M. Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives. Hum Reprod 16 (2001) 457-462
    • (2001) Hum Reprod , vol.16 , pp. 457-462
    • Hundscheid, R.D.1    Braat, D.D.2    Kiemeney, L.A.3    Smits, A.P.4    Thomas, C.M.5
  • 22
    • 4544294975 scopus 로고    scopus 로고
    • Evidence of early ovarian aging in fragile X premutation carriers
    • Welt C.K., Smith P.C., and Taylor A.E. Evidence of early ovarian aging in fragile X premutation carriers. J Clin Endocrinol Metab 89 (2004) 4569-4574
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 4569-4574
    • Welt, C.K.1    Smith, P.C.2    Taylor, A.E.3
  • 23
    • 34547813683 scopus 로고    scopus 로고
    • Examination of reproductive aging milestones among women who carry the FMR1 premutation
    • Allen E.G., Sullivan A.K., Marcus M., Small C., Dominguez C., Epstein M.P., et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 22 (2007) 2142-2152
    • (2007) Hum Reprod , vol.22 , pp. 2142-2152
    • Allen, E.G.1    Sullivan, A.K.2    Marcus, M.3    Small, C.4    Dominguez, C.5    Epstein, M.P.6
  • 24
    • 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 23 (2008) 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
  • 25
    • 67651126791 scopus 로고    scopus 로고
    • Sexual function in young women with spontaneous 46,XX primary ovarian insufficiency
    • Published online 27 October 2007 [Epub ahead of print]
    • Kalantaridou S.N., Vanderhoof V.H., Calis K.A., Corrigan E.C., Troendle J.F., and Nelson L.M. Sexual function in young women with spontaneous 46,XX primary ovarian insufficiency. Fertil Steril (2007) Published online 27 October 2007 [Epub ahead of print]
    • (2007) Fertil Steril
    • Kalantaridou, S.N.1    Vanderhoof, V.H.2    Calis, K.A.3    Corrigan, E.C.4    Troendle, J.F.5    Nelson, L.M.6
  • 27
    • 40749100654 scopus 로고    scopus 로고
    • Primary ovarian insufficiency: a more accurate term for premature ovarian failure
    • Welt C.K. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol 68 (2008) 499-509
    • (2008) Clin Endocrinol , vol.68 , pp. 499-509
    • Welt, C.K.1
  • 28
    • 0036321556 scopus 로고    scopus 로고
    • Women with regular menstrual cycles and a poor response to ovarian hyperstimulation for in vitro fertilization exhibit follicular phase characteristics suggestive of ovarian ageing
    • Beckers N.G., Macklon N.S., Eijkemans M.J., and Fauser B.C. Women with regular menstrual cycles and a poor response to ovarian hyperstimulation for in vitro fertilization exhibit follicular phase characteristics suggestive of ovarian ageing. Fertil Steril 78 (2002) 291-297
    • (2002) Fertil Steril , vol.78 , pp. 291-297
    • Beckers, N.G.1    Macklon, N.S.2    Eijkemans, M.J.3    Fauser, B.C.4
  • 29
    • 0030888962 scopus 로고    scopus 로고
    • Non-response to ovarian stimulation in normogonadotrophic, normogonadal women: a clinical sign of impending onset of ovarian failure pre-empting the rise of basal follicle stimulating hormone levels
    • Farhi J., Homburg R., Ferber A., Orvieto R., and Ben Rafael Z. Non-response to ovarian stimulation in normogonadotrophic, normogonadal women: a clinical sign of impending onset of ovarian failure pre-empting the rise of basal follicle stimulating hormone levels. Hum Reprod 12 (1997) 241-243
    • (1997) Hum Reprod , vol.12 , pp. 241-243
    • Farhi, J.1    Homburg, R.2    Ferber, A.3    Orvieto, R.4    Ben Rafael, Z.5
  • 30
    • 0026096437 scopus 로고
    • Gonadotropin, steroid, and inhibin levels in women with incipient ovarian failure during anovulatory and ovulatory rebound cycles
    • Buckler H.M., Evans C.A., Mamtora H., Burger H.G., and Anderson D.C. Gonadotropin, steroid, and inhibin levels in women with incipient ovarian failure during anovulatory and ovulatory rebound cycles. J Clin Endocrinol Metab 72 (1991) 116-124
    • (1991) J Clin Endocrinol Metab , vol.72 , pp. 116-124
    • Buckler, H.M.1    Evans, C.A.2    Mamtora, H.3    Burger, H.G.4    Anderson, D.C.5
  • 31
    • 0024262988 scopus 로고
    • Occult ovarian failure: a syndrome of infertility, regular menses, and elevated follicle stimulating hormone concentrations
    • Cameron I.T., O'Shea F.C., Rolland J.M., Hughes E.G., de Kretser D.M., and Healy D.L. Occult ovarian failure: a syndrome of infertility, regular menses, and elevated follicle stimulating hormone concentrations. J Clin Endocrinol Metab 67 (1988) 1190-1194
    • (1988) J Clin Endocrinol Metab , vol.67 , pp. 1190-1194
    • Cameron, I.T.1    O'Shea, F.C.2    Rolland, J.M.3    Hughes, E.G.4    de Kretser, D.M.5    Healy, D.L.6
  • 32
    • 0028213267 scopus 로고
    • The significance of elevated basal follicle stimulating hormone in regularly menstruating infertile women
    • Ahmed Ebbiary N.A., Lenton E.A., Salt C., Ward A.M., and Cooke I.D. The significance of elevated basal follicle stimulating hormone in regularly menstruating infertile women. Hum Reprod 9 (1994) 245-252
    • (1994) Hum Reprod , vol.9 , pp. 245-252
    • Ahmed Ebbiary, N.A.1    Lenton, E.A.2    Salt, C.3    Ward, A.M.4    Cooke, I.D.5
  • 35
    • 18144384470 scopus 로고    scopus 로고
    • An update: spontaneous premature ovarian failure is not an early menopause
    • Nelson L.M., Covington S.N., and Rebar R.W. An update: spontaneous premature ovarian failure is not an early menopause. Fertil Steril 83 (2005) 1327-1332
    • (2005) Fertil Steril , vol.83 , pp. 1327-1332
    • Nelson, L.M.1    Covington, S.N.2    Rebar, R.W.3
  • 37
    • 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., and Nelson L.M. A woman with spontaneous premature ovarian failure gives birth to a child with fragile X syndrome. Fertil Steril 84 (2005) 1508
    • (2005) Fertil Steril , vol.84 , pp. 1508
    • Corrigan, E.C.1    Raygada, M.J.2    Vanderhoof, V.H.3    Nelson, L.M.4
  • 38
    • 33645314905 scopus 로고    scopus 로고
    • Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • Bodega B., Bione S., Dalprà L., Toniolo D., Ornaghi F., Vegetti W., et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 21 (2006) 952-957
    • (2006) Hum Reprod , vol.21 , pp. 952-957
    • Bodega, B.1    Bione, S.2    Dalprà, L.3    Toniolo, D.4    Ornaghi, F.5    Vegetti, W.6
  • 39
    • 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
    • Bretherick K.L., Fluker M.R., and Robinson W.P. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117 (2005) 376-382
    • (2005) Hum Genet , vol.117 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 40
    • 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 C.H., and Warren S.T. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10 (2001) 1449-1454
    • (2001) Hum Mol Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 41
    • 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
    • Loesch D.Z., Bui Q.M., Huggins R.M., Mitchell R.J., Hagerman R.J., and 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 44 (2007) 200-204
    • (2007) J Med Genet , vol.44 , 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
  • 42
    • 0036345801 scopus 로고    scopus 로고
    • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
    • Greco C.M., Hagerman R.J., Tassone F., Chudley A.E., Del Bigio M.R., Jacquemont S., et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125 (2002) 1760-1771
    • (2002) Brain , vol.125 , pp. 1760-1771
    • Greco, C.M.1    Hagerman, R.J.2    Tassone, F.3    Chudley, A.E.4    Del Bigio, M.R.5    Jacquemont, S.6
  • 43
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Tassone F., Iwahashi C., and Hagerman P.J. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 1 (2004) 103-105
    • (2004) RNA Biol , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 44
    • 27644507366 scopus 로고    scopus 로고
    • Fragile X syndrome: diagnostic and carrier testing
    • Sherman S., Pletcher B.A., and Driscoll D.A. Fragile X syndrome: diagnostic and carrier testing. Genet Med 7 (2005) 584-587
    • (2005) Genet Med , vol.7 , pp. 584-587
    • Sherman, S.1    Pletcher, B.A.2    Driscoll, D.A.3
  • 45
    • 0035988491 scopus 로고    scopus 로고
    • Biological versus chronological ageing of oocytes, distinguishable by raised FSH levels in relation to the success of IVF treatment
    • Akande V.A., Fleming C.F., Hunt L.P., Keay S.D., and Jenkins J.M. Biological versus chronological ageing of oocytes, distinguishable by raised FSH levels in relation to the success of IVF treatment. Hum Reprod 17 (2002) 2003-2008
    • (2002) Hum Reprod , vol.17 , pp. 2003-2008
    • Akande, V.A.1    Fleming, C.F.2    Hunt, L.P.3    Keay, S.D.4    Jenkins, J.M.5
  • 46
    • 0029097960 scopus 로고
    • Fragile X premutations in familial premature ovarian failure
    • Conway G.S., Hettiarachchi S., Murray A., and Jacobs P.A. Fragile X premutations in familial premature ovarian failure. Lancet 346 (1995) 309-310
    • (1995) Lancet , vol.346 , pp. 309-310
    • Conway, G.S.1    Hettiarachchi, S.2    Murray, A.3    Jacobs, P.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.