메뉴 건너뛰기




Volumn 81, Issue 10, 1996, Pages 3722-3726

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; FOLLITROPIN RECEPTOR; LUTEINIZING HORMONE;

EID: 0029838761     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.10.3722     Document Type: Article
Times cited : (269)

References (25)
  • 1
    • 0021255267 scopus 로고
    • Pubertal aberrancy. Etiology and clinical approach
    • Reindollar RH, McDonough PG. 1984 Pubertal aberrancy. Etiology and clinical approach. J Reprod Med. 29:391-398.
    • (1984) J Reprod Med , vol.29 , pp. 391-398
    • Reindollar, R.H.1    McDonough, P.G.2
  • 3
    • 0020027078 scopus 로고
    • Hypergonadotropic amenorrhea and premature ovarian failure. A review
    • Rebar RW. 1982 Hypergonadotropic amenorrhea and premature ovarian failure. A review. J Reprod Med. 27:179-186.
    • (1982) J Reprod Med , vol.27 , pp. 179-186
    • Rebar, R.W.1
  • 4
    • 0017652364 scopus 로고
    • Phenotypic and cytogenetic findings in eighty-two patients with ovarian failure-changing trends
    • McDonough PG, Byrd JR, Tho PT, Mahesh VB. 1977 Phenotypic and cytogenetic findings in eighty-two patients with ovarian failure-changing trends. Fertil Steril. 28:638-641.
    • (1977) Fertil Steril , vol.28 , pp. 638-641
    • McDonough, P.G.1    Byrd, J.R.2    Tho, P.T.3    Mahesh, V.B.4
  • 5
    • 0022411612 scopus 로고
    • Genes and chromosomes that cause female infertility
    • Simpson JL. 1985 Genes and chromosomes that cause female infertility. Fertil Steril. 44:725-739.
    • (1985) Fertil Steril , vol.44 , pp. 725-739
    • Simpson, J.L.1
  • 6
    • 0027475040 scopus 로고
    • Turner syndrome: The case of the missing chromosome
    • Zinn AR, Page DC, Fisher EM. 1993 Turner syndrome: the case of the missing chromosome. Trends Genet. 9:90-93.
    • (1993) Trends Genet , vol.9 , pp. 90-93
    • Zinn, A.R.1    Page, D.C.2    Fisher, E.M.3
  • 7
    • 0028329869 scopus 로고
    • The genetics of XX gonadal dysgenesis
    • Aittomäki K. 1994 The genetics of XX gonadal dysgenesis. Am J Hum Genet. 54:844-851.
    • (1994) Am J Hum Genet , vol.54 , pp. 844-851
    • Aittomäki, K.1
  • 8
    • 0029118115 scopus 로고
    • Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
    • Aittomäki K, Dieguez Lucena JL, Pakarinen P, et al. 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 82:959-968.
    • (1995) Cell , vol.82 , pp. 959-968
    • Aittomäki, K.1    Dieguez Lucena, J.L.2    Pakarinen, P.3
  • 9
    • 0027507885 scopus 로고
    • Disease gene mapping in isolated human populations: The example of Finland
    • de la Chapelle A. 1993 Disease gene mapping in isolated human populations: the example of Finland. J Med Genet. 30:857-865.
    • (1993) J Med Genet , vol.30 , pp. 857-865
    • De La Chapelle, A.1
  • 10
    • 0002739198 scopus 로고
    • Diseases of Finland and Scandinavia
    • Rotschild H, ed. New York: Academic Press
    • Norio R. 1981 Diseases of Finland and Scandinavia. In: Rotschild H, ed. Biocultural aspects of disease. New York: Academic Press; 359-415.
    • (1981) Biocultural Aspects of Disease , pp. 359-415
    • Norio, R.1
  • 11
    • 0019472102 scopus 로고
    • Familial 46,XX gonadal dysgenesis
    • Aleem FA. 1981 Familial 46,XX gonadal dysgenesis. Fertil Steril. 35:317-320.
    • (1981) Fertil Steril , vol.35 , pp. 317-320
    • Aleem, F.A.1
  • 12
    • 0018339863 scopus 로고
    • Gonadal dysgenesis variants in sisters: A hitherto undescribed combination
    • Purandare VN, Sathe A. 1979 Gonadal dysgenesis variants in sisters: a hitherto undescribed combination. Int J Gynecol Obstet. 16:416-418.
    • (1979) Int J Gynecol Obstet , vol.16 , pp. 416-418
    • Purandare, V.N.1    Sathe, A.2
  • 14
    • 0020551281 scopus 로고
    • Familial gonadal germinative failure: Endocrine and human leukocyte antigen studies
    • Granat M, Amar A, Mor-Yosef S, Brautbar C, Schenker JG. 1983 Familial gonadal germinative failure: endocrine and human leukocyte antigen studies. Fertil Steril. 40:215-219.
    • (1983) Fertil Steril , vol.40 , pp. 215-219
    • Granat, M.1    Amar, A.2    Mor-Yosef, S.3    Brautbar, C.4    Schenker, J.G.5
  • 15
    • 0018724784 scopus 로고
    • Three siblings with premature gonadal failure
    • Smith A, Fraser IS, Noel M. 1979 Three siblings with premature gonadal failure. Fertil Steril. 32:528-530.
    • (1979) Fertil Steril , vol.32 , pp. 528-530
    • Smith, A.1    Fraser, I.S.2    Noel, M.3
  • 16
    • 0015052628 scopus 로고
    • Gonadal dysgenesis in individuals with apparently normal chromosomal complements: Tabulation of cases and compilation of genetic data
    • Simpson JL, Christakos AC, Horwith M, Silverman FS. 1971 Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. Birth Defects: Orig Article Series 7:215-228.
    • (1971) Birth Defects: Orig Article Series , vol.7 , pp. 215-228
    • Simpson, J.L.1    Christakos, A.C.2    Horwith, M.3    Silverman, F.S.4
  • 17
    • 0014677655 scopus 로고
    • A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus
    • Jones GS, de Moraes-Ruehsen M. 1969 A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus. Am J Obstet Gynecol. 104:597-600.
    • (1969) Am J Obstet Gynecol , vol.104 , pp. 597-600
    • Jones, G.S.1    De Moraes-Ruehsen, M.2
  • 19
    • 0021718145 scopus 로고
    • Endocrine and immunologic studies in a patient with resistant ovary syndrome
    • Talbert LM, Raj MHG, Hammond MG, Greer T. 1984 Endocrine and immunologic studies in a patient with resistant ovary syndrome. Fertil Steril. 42:741-744.
    • (1984) Fertil Steril , vol.42 , pp. 741-744
    • Talbert, L.M.1    Raj, M.H.G.2    Hammond, M.G.3    Greer, T.4
  • 20
    • 0028354802 scopus 로고
    • Current concepts of the roles of follicle stimulating hormone and luteinizing hormone in folliculogenesis
    • Hillier SG. 1994 Current concepts of the roles of follicle stimulating hormone and luteinizing hormone in folliculogenesis. Hum Reprod. 9:188-191.
    • (1994) Hum Reprod , vol.9 , pp. 188-191
    • Hillier, S.G.1
  • 21
    • 0028007173 scopus 로고
    • Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay
    • Klein KO, Baron J, Colli MJ, McDonnell DP, Cutler GBJ. 1994 Estrogen levels in childhood determined by an ultrasensitive recombinant cell bioassay. J Clin Invest. 94:2475-2480.
    • (1994) J Clin Invest , vol.94 , pp. 2475-2480
    • Klein, K.O.1    Baron, J.2    Colli, M.J.3    McDonnell, D.P.4    Cutler, G.B.J.5
  • 22
    • 0026516884 scopus 로고
    • Noninvasive diagnosis of resistant ovary syndrome by ultrasonography
    • Mehta AE, Matwijiw I, Lyons EA, Faiman C. 1992 Noninvasive diagnosis of resistant ovary syndrome by ultrasonography. Fertil Steril. 57:56-61.
    • (1992) Fertil Steril , vol.57 , pp. 56-61
    • Mehta, A.E.1    Matwijiw, I.2    Lyons, E.A.3    Faiman, C.4
  • 25
    • 0002515246 scopus 로고
    • Gonadal dysgenesis and sex chromosome abnormalities: Phenotypic/karyotypic correlations
    • Simpson JL, ed. New York: Academic Press
    • Simpson JL. 1979 Gonadal dysgenesis and sex chromosome abnormalities: phenotypic/karyotypic correlations. In: Simpson JL, ed. Genetic mechanisms of sexual development. New York: Academic Press; 365-405.
    • (1979) Genetic Mechanisms of Sexual Development , pp. 365-405
    • Simpson, J.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.