Coulam CB (1982) Premature gonadal failure. Fertil Steril 38:645–655
Article
CAS
PubMed
Google Scholar
Coulam CB, Adamson SC, Annegers JF (1986) Incidence of premature ovarian failure. Obstet Gynecol 4:604–606
Google Scholar
Van Kasteren YM, Hundscheid RD, Smits AP, Cremers FP, van Zonneveld P, Braat DD (1999) Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease? Hum Reprod 14(10):2455–2459
Article
PubMed
Google Scholar
Janse F, Knauff EA, Niermeijer MF, Eijkemans MJ, Laven JS, Lambalk CB et al (2010) Dutch premature ovarian failure consortium. Similar phenotype characteristics comparing familial and sporadic premature ovarian failure. Menopause 17(4):758–765
Article
PubMed
Google Scholar
Aittoma ki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J et al (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 6:959–968
Article
Google Scholar
Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW et al (2007) The FMR1 premutation and reproduction. Fertil Steril 3:456–465
Article
Google Scholar
Simpson JL (2008) Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes. Ann N YAcad Sci 1135:146–154
Article
Google Scholar
Devi A, Benn PA (1999) X-chromosome abnormalities in women with premature ovarian failure. J Reprod Med Obstet Gynecol 44(4):321–324
CAS
Google Scholar
Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M et al (2002) Genes and translocations involved in POF. Am J Med Genet 111(3):328–333
Article
PubMed
Google Scholar
Goswami D, Conway GS (2005) Premature ovarian failure. Hum Reprod Update 11(4):391–410
Article
CAS
PubMed
Google Scholar
Devi AS, Metzger DA, Luciano AA, Benn PA (1998) 45,X/45,XX mosaicism in patients with idiopathic premature ovarian failure. Fertil Steril 70(1):89–93
Article
CAS
PubMed
Google Scholar
Sybert VP, McCauley E (2004) Turner’s syndrome. N Engl J Med 351:1227–1238
Article
CAS
PubMed
Google Scholar
Wiktor A, Van Dyke DL (2004) FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med 6(3):132–135
Article
CAS
PubMed
Google Scholar
Cramer DW, Xu H, Harlow BL (1995) Family history as a predictor of early menopause. Fertil Steril 64(4):740–751
Article
CAS
PubMed
Google Scholar
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet. 2(7731):971–972
Article
CAS
PubMed
Google Scholar
Wittenberger MD, Hagerman RJ, Sherman SL, McConkie- Rosell A, Welt CK, Rebar RW et al (2007) The FMR1 premutation and reproduction. Fertil Steril 87(3):456–465
Article
CAS
PubMed
Google Scholar
Ceylaner G, Altinkaya SO, Mollamahmutoglu L, Ceylaner S (2010) Genetic abnormalities in Turkish women with premature ovarian failure. Int J Gynaecol Obstet 110(2):122–124
Article
CAS
PubMed
Google Scholar
Qin Y, Sun M, You L, Wei D, Sun J, Liang X et al (2012) ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure. Orphanet J Rare Dis 7:5
Article
PubMed
PubMed Central
Google Scholar
Ebrahimi M, Akbari AF (2015) The role of autoimmunity in premature ovarian failure. Iran J Reprod Med 13(8):461–472
PubMed
PubMed Central
Google Scholar
Jiao X, Qin C, Li J, Qin Y, Gao X, Zhang B et al (2012) Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod 27(7):2201–2220
Article
CAS
PubMed
Google Scholar
Dutta UR, Ponnala R, Pidugu VK, Dalal AB (2013) Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in south India. Arch Iran Med 16(5):267–270
PubMed
Google Scholar
Fitzgerald PH (1975) A mechanism of X chromosome aneuploidy in lymphocytes of aging women. Humangenetik. 28(2):153–158
CAS
PubMed
Google Scholar
Burgoyne PS, Baker TG (1984) Meiotic pairing and gametogenic failure. Symp Soc Exp Biol 38:349–362
CAS
PubMed
Google Scholar
Rebar RW, Connolly HV (1990) Clinical features of young women with hypergonadotropic amenorrhea. Fertil Steril 5:804–810
Article
Google Scholar
Castillo S, Lopez F, Tobella L, Salazar S, Daher V (1992) The cytogenetics of premature ovarian failure. Rev Chil Obstet Ginecol 5:341–345
Google Scholar
Davison RM, Quilter CR, Webb J, Murray A, Fisher AM, Valentine A et al (1998) A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum Reprod 11:3039–3041
Article
Google Scholar
Zhang J, Tang YY, Guo YP (2003) A study of hypergonadotropic secondary amenorrhea with cytogenetics. J Chongqing Med Univ 28:151–152
Google Scholar
Portnoi MF, Aboura A, Tachdjian G, Bouchard P, Dewailly D, Bourcigaux N et al (2006) Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients. Hum Reprod 9:2329–2334
Article
Google Scholar
Janse F, Knauff EA, Niermeijer MF, Eijkemans MJ, Laven JS, Lambalk CB et al (2010) Similar phenotype characteristics comparing familial and sporadic premature ovarian failure. Menopause 4:758–765
Article
Google Scholar
Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M et al (2010) Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clin Genet 2:181–185
Google Scholar
Baronchelli S, Conconi D, Panzeri E, Bentivegna A, Redaelli S, Lissoni S, Saccheri F, Villa N, Crosti F, Sala E et al (2011) Cytogenetics of premature ovarian failure: an investigation on 269 affected women. J Biomed Biotechnol 2011:370195
Article
PubMed
PubMed Central
Google Scholar
Kumar M, Pathak D, Venkatesh S, Kriplani A, Ammini AC, Dada R (2012) Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF). Indian J Med Res 135:92
Article
CAS
PubMed
PubMed Central
Google Scholar
Therman E, Susman B (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85:175–183
Article
CAS
PubMed
Google Scholar
Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC (1987) Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317:125–131
Article
CAS
PubMed
Google Scholar
Veneman F, Beverstock GC, Exalto N, Mollevanger P (1991) Premature menopause because of an inherited deletion in the long arm of the X-chromosome. Fertil Steril 55:631–633
Article
CAS
PubMed
Google Scholar
Rossetti F, Rizzolio F, Pramparo T, Sala C, Bione S, Bernardi F, Goegan M, Zuffardi O, Toniolo D (2004) A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. Eur J Hum Genet 12:829–834
Article
CAS
PubMed
Google Scholar
Fimiani G, Laperuta C, Falco G, Ventruto V, D'Urso M, Ursini MV, Miano MG (2006) Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction. Hum Reprod 21:529–535
Article
CAS
PubMed
Google Scholar
Ferreira SI, Matoso E, Pinto M, Almeida J, Liehr T, Melo JB et al (2010) X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation. Mol Cytogenet 3:14
Article
PubMed
PubMed Central
Google Scholar
Toniolo D (2006) X-linked premature ovarian failure: a complex disease. Curr Opin Genet Dev 16:293–300
Article
CAS
PubMed
Google Scholar
Prueitt RL, Chen H, Barnes RI, Zinn AR (2002) Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet Genome Res 97(1-2):32–38
Article
CAS
PubMed
Google Scholar
Rizzolio F, Sala C, Alboresi S, Bione S, Gilli S, Goegan M, Pramparo T, Zuffardi O, Toniolo D (2007) Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet 121:441–450
Article
CAS
PubMed
Google Scholar
Pan H, O’Brien MJ, Wigglesworth K, Eppig JJ, Schultz RM (2005) Transcript profiling during mouse oocyte development and the effect of gonadotropin priming and development in vitro. Dev Biol 286:493–506
Article
CAS
PubMed
Google Scholar
Sasiadek M, Haus O, Lukasik-Majchrowska M, Slezak R, Paprocka-Borowicz M, Busza H et al (1997) Cytogenetic analysis in couples with spontaneous abortions. Ginekol Pol 68:248–252
CAS
PubMed
Google Scholar
Šípek A Jr, Panczak A, Mihalová R, Hrcková L, Suttrová E, Sobotka V et al (2015) Pericentric inversion of human chromosome 9 epidemiology study in czech males and females. Folia Biol (Praha) 61:140–146
Google Scholar
Muthuvel A, Ravindran M, Chander A, Subbian C (2016) Pericentric inversion of chromosome 9 causing infertility and subsequent successful in vitro fertilization. Niger Med J 57(2):142–144
Article
PubMed
PubMed Central
Google Scholar
Hreinsson JG, Otala M, Fridstrom M, Borgstrom B, Rasmussen C, Lundqvist M et al (2002) Follicles are found in the ovaries of adolescent girls with Turner’s syndrome. J Clin Endocrinol Metabol 87(8):3618–3623
CAS
Google Scholar
Ropke A, Pelz AF, Volleth M, Schlößer HW, Morlot S, Wieacker PF (2004) Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes. Am J Obstet Gynecol 190:1059–1062
Article
PubMed
Google Scholar
Hook EB (1977) Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use. Am J Hum Genet 29(1):94–97
CAS
PubMed
PubMed Central
Google Scholar
Hanson L, Bryman I, Barrenäs ML, Janson PO, Wahlström J, Albertsson-Wikland K et al (2001) Genetic analysis of mosaicism in 53 women with Turner syndrome. Hereditas 134(2):153–159
Article
CAS
PubMed
Google Scholar
Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M (1995) Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am J Hum Genet 57(5):1143–1150
CAS
PubMed
PubMed Central
Google Scholar
Pal L, Santoro N (2002) Premature ovarian failure (POF): discordance between somatic and reproductive aging. Ageing Res Rev 1(3):413–423
Article
PubMed
Google Scholar
Holland CM (2001) 47, XXX in an adolescent with premature ovarian failure and autoimmune disease. J Pediatr Adolesc Gynecol 14(2):77–80
Article
CAS
PubMed
Google Scholar
Brambila-Tapia AJL, Rivera H, García-Castillo H, Domínguez-Quezada MG, Dávalos-Rodríguez IP (2009) 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development. Fertil Steril 92(5):1747.e5–1747.e7
Article
Google Scholar
Bettio D, Levi Setti P, Bianchi P, Grazioli V (2003) Trisomy18 mosaicism in a woman with normal intelligence. Am J Med Genet 120(2):303–304
Article
Google Scholar