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Volumn 52, Issue 1, 2009, Pages 37-40

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation

Author keywords

FMR1; Menopause; POF; Premutation

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA;

EID: 58149119367     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.11.001     Document Type: Article
Times cited : (12)

References (23)
  • 2
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen R.C., Zoghbi H.Y., Moseley A.B., Rosenblatt H.M., and Belmont J.W. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51 (1992) 1229-1239
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 3
    • 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., and Marozzi A. 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    Dalpra, L.3    Toniolo, D.4    Ornaghi, F.5    Vegetti, W.6    Ginelli, E.7    Marozzi, A.8
  • 4
    • 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
  • 5
    • 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
  • 6
    • 0022606335 scopus 로고
    • The female and the fragile X. A study of 144 obligate female carriers
    • Fryns J.P. The female and the fragile X. A study of 144 obligate female carriers. Am. J. Med. Genet. 23 (1986) 157-169
    • (1986) Am. J. Med. Genet. , vol.23 , pp. 157-169
    • Fryns, J.P.1
  • 11
    • 34547106583 scopus 로고    scopus 로고
    • Mechanisms of premature ovarian failure: reappraisal and overview
    • Mahmoud M.S., Merhi Z.O., and Yelian F.D. Mechanisms of premature ovarian failure: reappraisal and overview. J. Reprod. Med. 52 (2007) 623-629
    • (2007) J. Reprod. Med. , vol.52 , pp. 623-629
    • Mahmoud, M.S.1    Merhi, Z.O.2    Yelian, F.D.3
  • 13
    • 0029944233 scopus 로고    scopus 로고
    • Neuropsychological profiles of three sisters homozygous for the fragile X premutation
    • Mazzocco M.M., and Holden J.J. Neuropsychological profiles of three sisters homozygous for the fragile X premutation. Am. J. Med. Genet. 64 (1996) 323-328
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 323-328
    • Mazzocco, M.M.1    Holden, J.J.2
  • 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
  • 17
    • 0031785622 scopus 로고    scopus 로고
    • An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation
    • Russo S., Briscioli V., Cogliati F., Macchi M., Lalatta F., and Larizza L. An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation. Clin. Genet. 54 (1998) 309-314
    • (1998) Clin. Genet. , vol.54 , pp. 309-314
    • Russo, S.1    Briscioli, V.2    Cogliati, F.3    Macchi, M.4    Lalatta, F.5    Larizza, L.6
  • 19
    • 0034522229 scopus 로고    scopus 로고
    • Premature ovarian failure in the fragile X syndrome
    • Sherman S.L. Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet. 97 (2000) 189-194
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 189-194
    • Sherman, S.L.1
  • 21
    • 32244436484 scopus 로고    scopus 로고
    • The Fragile X premutation: new insights and clinical consequences
    • Van Esch H. The Fragile X premutation: new insights and clinical consequences. Eur. J. Med. Genet. 49 (2006) 1-8
    • (2006) Eur. J. Med. Genet. , vol.49 , pp. 1-8
    • Van Esch, H.1
  • 22
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.