References
- 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-100708-204735
- 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): 65-72.10.1080/10495398.2014.887020
- 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.2011.01.01821316664
- 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.2011.07.033
- 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.
- 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.2014.09.03025439847
- 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.7.1726662397
- 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.
- 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.
- 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-2013-10198824421283
- Ledig S, Röpke A, Wieacker P. Copy number variants in premature ovarian failure and ovarian dysgenesis. Sex Dev. 2010; 4(4-5): 225-232.10.1159/00031495820606390
- 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/dew142
- 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/deq167
- 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.2010.07.106220797712
- 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/srep2183126907467
- 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.90509429162795
- Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. Am J Hum Genet. 1997; 60(6): 1567.10.1016/S0002-9297(07)64260-8
- 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/deh50215459172
- 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): 113-119.10.1086/50540616773570
- 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.
- 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.0044887
- 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.2010.01.00420132918
- 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.31254
- 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): 228-232.18039948
- 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.