Browse > Article

Genetics of Premature Ovarian Failure  

Yoon, Sang-Ho (Department of Obstetrics and Gynecology, Dongguk University International Hospital)
Choi, Young-Min (Department of Obstetrics and Gynecology, College of Medicine, Seoul National University)
Publication Information
Clinical and Experimental Reproductive Medicine / v.34, no.4, 2007 , pp. 229-238 More about this Journal
Keywords
Citations & Related Records
Times Cited By KSCI : 1  (Citation Analysis)
연도 인용수 순위
1 Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986; 67: 604-6   PUBMED
2 Simpson JL. Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypickaryotypic correlations Birth Defects Orig Artie Ser 1975; 11: 23-59
3 Allingham-Hawkins DJ, Babul-Hitji R, Chitayat D, Holden JJ, Yang KT, Lee C, Hudson R, Gorwill H, Nolin SL, Glicksman A, 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 1999; 83: 322-5   DOI   ScienceOn
4 Dong J, Albertini DF, Nishimiori K, Kumar TR, Lu N, Matzuk MM. Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 1996; 383: 531-5   DOI   ScienceOn
5 Takahashi K, Ozaki T, Okada M, Kurioka H, Kanasaki H, Miyazaki K. Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure. Fertil Steril 1999; 71: 96-101   DOI   PUBMED   ScienceOn
6 이경훈, 최영민, 김종미, 김진주, 황규리, 구승엽, 이규섭, 강병문, 윤병구, 한명석, 지병철, 서창석, 김석현, 김정구, 문신용, 한국인 원인불명 조기난소부전 환자 에서 $Inhibin-\alpha$ 유전자 +769 G/A 돌연변이 유무. 대한산부회지 2006; 49: 1706-11
7 Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zucotti M, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patients with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 1998; 62: 533-41   DOI   ScienceOn
8 Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page DC. An azospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 1999; 23: 429-32   DOI   ScienceOn
9 Shibanuma K, Tong ZB, Vanderhoof VH, Vanevski K, Nelson LM. Investigation of kit gene mutations in women with 46,XX spontaneous premature ovarian failure. BMC Women Health 2002; 2: 8
10 Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T. Eleven X chromosome breakpoints associated with premature ovarian failure map to a 15-Mb YAC contig spanning Xq21. Genomics 1997; 40: 123-31   DOI   ScienceOn
11 Smith JA, Vitale S, Reed GF, Grieshaber SA, Goodman LA, Vanderhoof VH, Calis KA, Nelson LM. Dry eye signs and symptoms in women with premature ovarian failure. Arch Ophthalmol 2004; 122: 151-6   DOI   ScienceOn
12 Dube JL, Wang P, Elvin J, Lyons KM, Celeste AJ, Matzuk MM. The bone morphogenetic protein 15 gene is X-linked and expressed in oocyte. Mol Endocrinol 1998; 12: 1809-17   DOI   ScienceOn
13 김정구, 이규화, 김석현, 최영민, 문신용, 이진용. 정상 염색체 핵형 및 조기난소부전증을 가진 한국여성에서 난포자극호르몬 수용체의 유전자변이에 관한 연구. 대한산부회지 2000; 43: 836-41
14 Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E. The human FOXL2 mutation database. Hum Mutat 2004; 24: 189-93   DOI   ScienceOn
15 Goswami R, Goswami D, Kabra M, Gupta N, Dubey S, Dadhwal V. Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. Fertil Steril 2003; 80: 1052-4   DOI   ScienceOn
16 Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN. Identifications of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod 2002; 8: 729-33   DOI   ScienceOn
17 Prueitt RL, Ross JL, Zinn AR. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet Cell Genet 2000; 89: 44-50   DOI   PUBMED   ScienceOn
18 Therman E, Laxova R, Susman B. The critical region on the human Xq. Hum Genet 1990; 85: 455-61   PUBMED
19 Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999; 89: 186-200   DOI   PUBMED   ScienceOn
20 Murray A, Webb J, Dennis N, Conway G, Morton N. Microdeletions in FMR2 may be a significant cause of premature ovarian failure. J Med Genet 1999; 36: 767-70   DOI   PUBMED
21 Latronico AC, Anasti J, Arnhold IJ, Rapaport R, Mendoca BB, Bloise W, Castro M, Tsigos C, Chrousos GP. Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med 1996; 334: 507-12   DOI   ScienceOn
22 Wang HQ, Takakura K, Takebayashi, Noda Y. Mutational analysis of the mullerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovarian syndrome and premature ovarian failure. Fertil Steril 2002; 78: 1329-30   DOI   ScienceOn
23 Cheng CJ, Stenson S. Bilateral corneal anesthesia associated with diaphragmatic paralysis, ovarian failure, and developmental delay. Eye Contact Lens 2003; 29: 262-5   DOI   ScienceOn
24 Powell CM, Taggart RT, Drumheller TC, Wangsa D, Quia C, Nelson LM, White BJ. Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. Am J Med Genet 1994; 52: 19-26   DOI   ScienceOn
25 Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001; 27: 159-66   DOI   ScienceOn
26 Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A, Chatterjee VK. Primary amenorrhea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat Genet 1993; 5: 83-6   DOI   ScienceOn
27 Rose EA, Glaser T, Jones C, Smith CL, Lewis WH, Call KM, Minden M, Champagne E, Bonetta L, Yeger H, et al. Complete physical map of the WAGR region of llp13 localizes a candidate Wilms' tumor gene. Cell 1990; 60: 495-508   DOI   ScienceOn
28 Holland Clvl, 47,XXX in an adolescent with premature ovarian failure and autoimmune disease. J Pediatr Adolesc Gynecol 2001; 14: 77-80   DOI   PUBMED   ScienceOn
29 Devi AS, Metzger DA, Luciano AA, Benn PA. 45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure. Fertil Steril 1998; 70: 89-93   DOI   ScienceOn
30 Vegetti W, Grazia TM, Testa G, de Lauretis Yankowski, Alagna F, CastoIdi E, Taborelli M, Motta T, Bolis PF, Dalpra L, et al. Inheritance in idiopathic premature ovarian failure: analysis of 71 cases. Hum Reprod 1998; 13: 1796-800   DOI   ScienceOn
31 Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP 15) gene. Am J Hum Genet 2004; 75: 106-11   DOI   ScienceOn
32 Perheentupa J. Autoimmune polyendocrinopathy-candidiasisectodermal-dystrophy (APECED). Horm Metab Res 1996; 28: 353-6   DOI   ScienceOn
33 Conway GS, Payne NN, Webb J, Murray A, Jacobs PA. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 1998; 13: 1184-7   DOI   ScienceOn
34 Luoh SW, Bain PA, Polakiewicz RD, Goodheart ML, Gardner H, Jaenisch R, Page DC. Zfx mutation results in small animal size and reduced germ cell number in male and female mice. Development 1997; 124: 2275-84   PUBMED
35 De Baere E, Lemercier B, Christin-Maitre S, Durval D, Messiaen L, Fellous M, Veitia R. FOXL2 mutation screening in a large panel of POF patients and XX males. J Med Genet 2002; 39: e43
36 Bodega B, Porta C, Crosignani PG, Ginelli E, Marozzi A. Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure. Mol Hum Reprod 2004; 10: 555-7   DOI   ScienceOn
37 Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertil Steril 2004; 81: 1137-9   DOI   ScienceOn
38 Anasti JN. Premature ovarian failure. Fertil Steril 1998; 70: 1-15   PUBMED
39 Davison RM, Quilter CR, Webb J, Murray A, Fisher AM, Valentine A, Serhal P, Conway GS. A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum Reprod 1998; 13: 3039-41   DOI   PUBMED
40 Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinski M, Trask B, van den Engh G, Collins FS, Nussbaum RL. Choroideremia and deafuess with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989; 45: 530 -40   PUBMED
41 Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation center is expressed exclusively from the inactive X chromosome. Nature 1991; 349: 38-44   DOI   ScienceOn
42 Partington MW, Moore DY, Turner GM. Confirmation of early menopause in fragile X carriers. Am J Med Genet 1996; 64: 370-2   DOI   ScienceOn
43 Layman LC, Amde S, Cohen DP, lin M, Xie J. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46, XX ovarian failure. Fertil Steril 1998; 69: 300-2   DOI   ScienceOn
44 Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update 2005; 11: 391-410   DOI   ScienceOn
45 Tharapel AT, Andersen KP, Simpson JL, Martens PR, Wilroy RS, Jr, Llerena JC, Jr, Schwart CEo Deletion (X)$(q26.1\rightarrow 28)$ in a proband and her mother: molecular characterization and phenotypic-karyotpic deductions. Am J Hum Genet 1993; 52: 463-71   PUBMED
46 Zinn AR, Ross JL. Tumer syndrome and hap1oinsufficiency. Curr Opin Genet Dev 1998; 8: 322-7   DOI   ScienceOn
47 Coulam CB. Premature gonadal failure. Fertil Steril 1982; 38: 645-55   DOI   PUBMED
48 Liu JY, Gromoll J, Cedars MI, La Barbera AR. Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without Hypergonadotropic amenorrhea. Fertil Steril 1998; 70: 326-31   DOI   ScienceOn
49 Lami T, Preyer O, Umek W, Hengstschlager M, Hanzal H. Genetic disorders in premature ovarian failure. Hum Reprod Update 2002; 8: 483-91   DOI   ScienceOn
50 Barlow C, Hirotsune S, Paylor R, Liyanage M, Eckhaus M, Collins F, Shiloh Y, Crawley IN, Ried T, Tagle D, et al. ATm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996; 86: 159-71   DOI   ScienceOn
51 Conway GS. Premature ovarian failure. Curr Opin Obstet Gynecol 1997; 9: 202-6   PUBMED
52 Lyon MF. The X inactivation center and X chromosome imprinting. Eur J Hum Genet 1994; 2: 255-61   DOI   PUBMED
53 허창영, 최영민, 박성효, 윤병구, 이규섭, 나용진, 이병석, 류철희, 이화진, 설혜원, 오선경, 구승엽, 서창석, 김석현, 김정구, 문신용, 한국의 원인불명 조기폐경 환자의 FMRI 유전자 양상. 대한산부회지 2003;46:978-83
54 Shelling AN, Burton KA, Chand AL, van Eecc, France JT, Farquhar CM, Milsom SR, Love DR, Gersak K, Aittomaki K, et al. Inhibin: a candidate gene for premature ovarian failure. Hum Reprod 2000; 15: 2644-9   DOI   ScienceOn
55 Katsuya T, Horiuchi M, Minami S, Koike G, Santoro NF, Hsueh AJ, Djau VJ. Genomic organization and polymorphism of human angiotensin type II receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome. Mol Cell Endocrinol 1997; 127: 221-8   DOI   ScienceOn
56 Amati P, Gasparini P, Zlotogora J, Zelante L, Chomel JC, Kitzis A, Kaplan J, Bonneau D. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet 1996; 58: 1089-92   PUBMED
57 Snowdon DA, Kane RL, Beeson WL, Burke GL, Sprafka JM, Potter J, Iso H, Jacobs DR, Jr, Phillips RL. Is early natural menopause a biologic marker of health and aging? Am J Public Health 1989; 79: 709-14   DOI   ScienceOn
58 Layman LC, Shelley ME, Huey LO, Wall SW, Tho SP, McDonough PG. Follicle-stimulating hormone beta gene structure in premature ovarian failure. Fertil Steril 1993; 60: 852-7   DOI   PUBMED
59 Morita Y, Tilly JL. Oocyte apoptosis: like sand through an hour-glass. Dev Biol 1999; 213: 1-17   DOI   ScienceOn
60 Aittomaki K, Lucena JL, Pakarinen P, Perheentupa J. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995; 82: 959-68   DOI   ScienceOn
61 Davis CJ, Davison RM, Payne NN, Rodeck CH, Conway GS. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Hum Reprod 2000; 15: 2418-22   DOI   ScienceOn
62 Loughlin SA, Redha A, McIver J, Boyd E, Carothers A, Connor JM. Analysis of the origins of Tumer's syndrome using polymorphic DNA probes. J Med Genet 1991; 28: 156-8   DOI   PUBMED