This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61(1): 437-455.2005934710.1146/annurev-med-100708-204735StankiewiczPLupskiJRStructural variation in the human genome and its role in disease201061143745520059347Search in Google Scholar
Mukherjee A, Dass G, Mohanarao GJ, Katneni VK, Banerjee D, Das TK, et al. Copy number differences of Υ chromosomal genes between superior and inferior quality semen producing crossbred (Bos taurus x Bos indicus) bulls. Anim Biotechnol. 2015; 26(1): 65-72.10.1080/10495398.2014.887020MukherjeeADassGMohanaraoGJKatneniVKBanerjeeDDasTKet alCopy number differences of Υ chromosomal genes between superior and inferior quality semen producing crossbred (Bos taurus x Bos indicus) bulls2015261657225153458Open DOISearch in Google Scholar
Knauff EAH, Blauw HM, Pearson PL, Kok K, Wijmenga C, Veldink JH, et al. Copy number variants on the X chromosome in women with primary ovarian insufficiency. Fertil Steril. 2011; 95(5): 1584-1588.10.1016/j.fertnstert.2011.01.01821316664KnauffEAHBlauwHMPearsonPLKokKWijmengaCVeldinkJHet alCopy number variants on the X chromosome in women with primary ovarian insufficiency20119551584158821316664Open DOISearch in Google Scholar
Yan J, Fan L, Zhao Y, You L, Wang L, Zhao H, et al. DYZ1 copy number variation, Υ chromosome polymorphism and early recurrent spontaneous abortion/ early embryo growth arrest. Eur J Obstet Gynecol Reprod Biol. 2011; 159(2): 371-374.10.1016/j.ejogrb.2011.07.033YanJFanLZhaoYYouLWangLZhaoHet alDYZ1 copy number variation, Υ chromosome polymorphism and early recurrent spontaneous abortion/ early embryo growth arrest2011159237137421831514Open DOISearch in Google Scholar
Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, et al. Copy number variants in patients with severe oligozoospermia and Sertolicell-only syndrome. PloS One. 2011; 6(4): el9426.TüttelmannFSimoniMKlieschSLedigSDworniczakBWieackerPet alCopy number variants in patients with severe oligozoospermia and Sertolicell-only syndrome201164el942610.1371/journal.pone.0019426308485321559371Search in Google Scholar
Eggers S, Deboer KD, Bergen JVD, Gordon L, White SJ, Jamsai D, et al. Copy number variation associated with meiotic arrest in idiopathic male infertility. Fertil Steril. 2015; 103(1): 214-219.10.1016/j.fertnstert.2014.09.03025439847EggersSDeboerKDBergenJVDGordonLWhiteSJJamsaiDet alCopy number variation associated with meiotic arrest in idiopathic male infertility2015103121421925439847Open DOISearch in Google Scholar
Dong Y, Pan Y, Wang R, Zhang Z, XiQ, Liu RZ. Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia. Genet Mol Res.. 2015; 14(4): 16041-16049.10.4238/2015.December.7.1726662397DongYPanYWangRZhangZXiQLiuRZCopy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia2015144160411604926662397Open DOISearch in Google Scholar
Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl. 2004; 27(4): 240-249.SimoniMBakkerEKrauszCEAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl27424024910.1111/j.1365-2605.2004.00495.x15271204Search in Google Scholar
Yang Y, Zhang SZ, Peng LM, Ding XP, Lin L, Wang J, et al. Studies on molecular epidemiology of Υ chromosome azoospermia factor microdeletions in Chinese patients with idiopathic azoospermia or severe oligozoospermia. Chinese J Med Genet. 2003; 20(5): 385-389.YangYZhangSZPengLMDingXPLinLWangJet alStudies on molecular epidemiology of Υ chromosome azoospermia factor microdeletions in Chinese patients with idiopathic azoospermia or severe oligozoospermia2003205385389Search in Google Scholar
Lo GD, Chianese C, Ars Ε, Ruiz-Castañé Ε, Forti G, Krausz C. Recurrent X chromosome-linked deletions: Discovery of new genetic factors in male infertility. J Med Genet. 2014; 51(5): 340-344.10.1136/jmedgenet-2013-10198824421283LoGDChianeseCArsΕRuiz-CastañéΕFortiGKrauszCRecurrent X chromosome-linked deletions: Discovery of new genetic factors in male infertility201451534034424421283Open DOISearch in Google Scholar
Ledig S, Röpke A, Wieacker P. Copy number variants in premature ovarian failure and ovarian dysgenesis. Sex Dev. 2010; 4(4-5): 225-232.10.1159/00031495820606390LedigSRöpkeAWieackerPCopy number variants in premature ovarian failure and ovarian dysgenesis201044-522523220606390Open DOISearch in Google Scholar
Tšuiko O, Nõukas M, Žilina O, Hensen K, Tapanainen JS, Mägi R, et al. Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. Hum Reprod. 2016; 31(8): 1913-1925.10.1093/humrep/dew142TšuikoONõukasMŽilinaOHensenKTapanainenJSMägiRet alCopy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases201631819131925Open DOISearch in Google Scholar
Ledig S, Hiort O, Scherer G, Wolff G, Morlot S, Kuechler A, et al. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci. Hum Reprod. 2010; 25(10): 2637-2646.2068575810.1093/humrep/deq167LedigSHiortOSchererGWolffGMorlotSKuechlerAet alArray-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: Evaluation of array CGH as diagnostic tool and search for new candidate loci2010251026372646Search in Google Scholar
Ledig S, Schippert C, Strick R, Hoffmann M, Wolff G, Morlot S, et al. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril. 2011; 95(5): 1589-1594.10.1016/j.fertnstert.2010.07.106220797712LedigSSchippertCStrickRHoffmannMWolffGMorlotSet alRecurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome201195515891594Open DOISearch in Google Scholar
Liu X, Li ZS, Su Z, Zhang JJ, Li HG, Xie J, et al. Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs). Sci Rep. 2016; 6: 21831. 10.1038/srep2183126907467LiuXLiZSSuZZhangJJLiHGXieJet alNovel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs)201662183110.1038/srep21831Open DOISearch in Google Scholar
Wang MZ, Lin FQ, Li M, He D, Yu QH, Yang XX, et al. Semiconductor sequencing analysis of chromosomal copy number variations in spontaneous miscarriage. Med Sci Monit. 2017; 23: 5550-5557. 10.12659/MSM.90509429162795WangMZLinFQLiMHeDYuQHYangXXet alSemiconductor sequencing analysis of chromosomal copy number variations in spontaneous miscarriage2017235550555710.12659/MSM.905094Open DOISearch in Google Scholar
Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. Am J Hum Genet. 1997; 60(6): 1567.10.1016/S0002-9297(07)64260-8GardnerRJMSutherlandGRShafferLGChromosome abnormalities and genetic counseling19976061567Open DOISearch in Google Scholar
Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod. 2004; 19(12): 2759-2766.10.1093/humrep/deh50215459172BioneSRizzolioFSalaCRicottiRGoeganMManziniMCet alMutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B200419122759276615459172Open DOISearch in Google Scholar
Lacombe A, Lee H, Zahed L, Choucair, M, Muller JM, Nelson SF, et al. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006, 79(1): 113-119.10.1086/50540616773570LacombeALeeHZahedLChoucairMMullerJMNelsonSFet alDisruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure2006791113119147411516773570Open DOISearch in Google Scholar
Lindqvist A, Hughes IA, Andersson S. Substitution mutation C268Y causes 17 β-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocr Metab. 2001, 86(2): 921-923.LindqvistAHughesIAAnderssonSSubstitution mutation C268Y causes 17 β-hydroxysteroid dehydrogenase 3 deficiency200186292192310.1210/jc.86.2.921Search in Google Scholar
Krausz C, Giachini C, Lo GD, Daguin F, Chianese C, Ars Ε, et al. High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PloS One. 2012; 7(10): e44887.2305618510.1371/journal.pone.0044887KrauszCGiachiniCLoGDDaguinFChianeseCArsΕet alHigh resolution X chromosome-specific array-CGH detects new CNVs in infertile males2012710e44887346728323056185Search in Google Scholar
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, et al. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Eur J Med Genet. 2010; 53(2): 93-99.10.1016/j.ejmg.2010.01.00420132918LiFShenYKöhlerUSharkeyFHMenonDCoulleauxLet alInterstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?2010532939920132918Open DOISearch in Google Scholar
Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello FI, et al. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-γ, and RXR-a, as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A. 2006; 140A(12): 1339-1342.10.1002/ajmg.a.31254CherokiCKrepischi-SantosACRosenbergCJeheeFSMingroni-NettoRCPavanelloFIet alReport of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-γ, and RXR-a, as major genes determining MRKH anomaly in a study of 25 affected women2006140A121339134216691591Open DOISearch in Google Scholar
Cheroki C, Rrepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, et al. Genomic imbalances associated with mullerian aplasia. J Med Genet. 2008, 45(4): 228-232.18039948CherokiCRrepischi-SantosACSzuhaiKBrennerVKimCAOttoPAet alGenomic imbalances associated with mullerian aplasia200845422823210.1136/jmg.2007.05183918039948Search in Google Scholar
Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, et al. Primary amenorhhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genet A. 2007; 143A(17): 216-218.SundaramUTMcDonald-McGinnDMHuffDEmanuelBSZackaiEHDriscollDAet alPrimary amenorhhea and absent uterus in the 22q11.2 deletion syndrome2007143A1721621810.1002/ajmg.a.31736281096717676598Search in Google Scholar