조기난소부전의 유전학 = Genetics of Premature Ovarian Failure

참고문헌 (Reference)

1 "한국인 원인불명 조기폐경 환자의 FMR1 유전자 양상" 46 : 978-983, 2003

2 "한국인 원인불명 조기난소부전 환자에서 Inhibin-α 유전자 +769 G/A 돌연변이 유무" 49 : 1706-1711, 2006

3 "정상염색체 핵형 및 조기난소부전 증을 가진 한국여성에서 난포자극호르몬 수용체의 유전자변이에 관한 연구" 43 : 836-841, 2000

4 "Zfx mutation results in small animal size and reduced germ cell number in male and female mice" 124 : 2275-2284, 1997

5 "Turner syndrome and haploinsufficiency" 8 : 322-327, 1998

6 "The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/ epicanthus inversus syndrome" 27 : 159-166, 2001

7 "The human FOXL2 mutation database" 24 : 189-193, 2004

8 "The critical region on the human Xq" 85 : 455-61, 1990

9 "The bone morphogenetic protein 15 gene is X-linked and expressed in oocyte" 12 : 1809-1817, 1998

10 "The X inactivation center and X chromosome imprinting" 2 : 255-61, 1994

11 "The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46, XX ovarian failure" 69 : 300-302, 1998

12 "Primary amenorrhea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone" 5 : 83-6, 1993

13 "Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders" 80 : 1052-1054, 2003

14 "Premature ovarian failure in a female with proximal symphalangism and Noggin mutation" 81 : 1137-1139, 2004

15 "Premature ovarian failure" 9 : 202-206, 1997

16 "Premature ovarian failure" 11 : 391-410, 2005

17 "Premature ovarian failure" 70 : 1-15, 1998

18 "Premature gonadal failure" 38 : 645-55, 1982

19 "Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene" 89 : 44-50, 2000

20 "Ovarian differentiation and gonadal failure" 89 : 186-200, 1999

21 "Oocyte apoptosis: like sand through an hour-glass" 213 : 1-17, 1999

22 "Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure" 10 : 555-557, 2004

23 "Mutational analysis of the mullerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovarian syndrome and premature ovarian failure" 78 : 1329-1330, 2002

24 "Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure" 82 : 959-968, 1995

25 "Murray A^Webb J^Dennis N^Conway G^Morton N" 36 : 767-770, 1999

26 "Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature" 52 : 19-26, 1994

27 "Is early natural menopause a biologic marker of health and aging?" 79 : 709-714, 1999

28 "Investigation of kit gene mutations in women with 46,XX spontaneous premature ovarian failure" 2 : 8-, 2002

29 "Inhibin: a candidate gene for premature ovarian failure" 15 : 2644-2649, 2000

30 "Inheritance in idiopathic premature ovarian failure: analysis of 71 cases" 13 : 1796-1800, 1998

31 "Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure" 71 : 96-101, 1999

32 "Incidence of premature ovarian failure" 67 : 604-6, 1986

33 "Identifications of novel mutations in FOXL2 associated with premature ovarian failure" 8 : 729-733, 2002

34 "Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without Hypergonadotropic amenorrhea" 70 : 326-331, 1998

35 "Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP 15) gene" 75 : 106-111, 2004

36 "Growth differentiation factor-9 is required during early ovarian folliculogenesis" 383 : 531-535, 1996

37 "Gonadal dysgenesis and abnormalities of the human sex chromosomes current status of phenotypic-karyotypic correlations Birth Defects Orig Artic Ser 1975" 23-59,

38 "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" 127 : 221-228, 1997

39 "Genetic disorders in premature ovarian failure" 8 : 483-491, 2002

40 "Fragile X premutation screening in women with premature ovarian failure" 13 : 1184-1187, 1998

41 "Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data" 83 : 322-325, 1999

42 "Follicle-stimulating hormone beta gene structure in premature ovarian failure" 60 : 852-7, 1993

43 "Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion" 15 : 2418-2422, 2000

44 "FOXL2 mutation screening in a large panel of POF patients and XX males" 39 : e43-, 2002

45 "Eleven X chromosome breakpoints associated with premature ovarian failure map to a 15-Mb YAC contig spanning Xq21" 40 : 123-131, 1997

46 "Dry eye signs and symptoms in women with premature ovarian failure" 122 : 151-156, 2004

47 "Confirmation of early menopause in fragile X carriers" 64 : 370-372, 1996

48 "Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms’ tumor gene" 60 : 495-508, 1990

49 "Choroideremia and deafness with stapes fixation:a contiguous gene deletion syndrome in Xq21" 45 : 530-40, 1989

50 "Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene" 334 : 507-512, 1996

51 "Bilateral corneal anesthesia associated with diaphragmatic paralysis, ovarian failure, and developmental delay" 29 : 262-265, 2003

52 "Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED)" 28 : 353-356, 1996

53 "Analysis of the origins of Turner’s syndrome using polymorphic DNA probes" 28 : 156-8, 1991

54 "An azospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y" 23 : 429-432, 1999

55 "ATm-deficient mice: a paradigm of ataxia telangiectasia" 86 : 159-171, 1996

56 "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" 62 : 533-541, 1998

57 "A gene from the region of the human X inactivation center is expressed exclusively from the inactive X chromosome" 349 : 38-44, 1991

58 "A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23" 58 : 1089-1092, 1996

59 "A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure" 13 : 3039-3041, 1998

60 "47,XXX in an adolescent with premature ovarian failure and autoimmune disease" 14 : 77-80, 2001

61 "45,X/46,XX mosaicism in patients with idiopathic" 70 : 89-93, 1998