[1] |
Chow, J. F. C., H. H. Y. Cheng, E. Y. L. Lau, W. S. B. Yeung and E. H. Y. Ng, 2019. Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations. Genomics.
|
[2] |
Cretu Stancu, M., M. J. van Roosmalen, I. Renkens, M. M. Nieboer, S. Middelkamp, J. de Ligt, G. Pregno, D. Giachino, G. Mandrile, J. Espejo Valle-Inclan, J. Korzelius, E. de Bruijn, E. Cuppen, M. E. Talkowski, T. Marschall, J. de Ridder and W. P. Kloosterman, 2017. Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nat Commun 8, 1326.
|
[3] |
Dutta, U. R., S. N. Rao, V. K. Pidugu, S. V. V, A. Bhattacherjee, A. D. Bhowmik, S. K. Ramaswamy, K. G. Singh and A. Dalal, 2018. Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics.
|
[4] |
Fiorentino, F., G. Kokkali, A. Biricik, D. Stavrou, B. Ismailoglu, R. De Palma, L. Arizzi, G. Harton, M. Sessa and K. Pantos, 2010. Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril 94, 2001-2011, 2011 e2001-2006.
|
[5] |
Hu, L., D. Cheng, F. Gong, C. Lu, Y. Tan, K. Luo, X. Wu, W. He, P. Xie, T. Feng, K. Yang, G. Lu and G. Lin, 2016. Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos. EBioMedicine 14, 139-147.
|
[6] |
Imaizumi, K., J. Kimura, M. Matsuo, K. Kurosawa, M. Masuno, N. Niikawa and Y. Kuroki, 2002. Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). Am J Med Genet 107, 58-60.
|
[7] |
Lu, H., F. Giordano and Z. Ning, 2016. Oxford Nanopore MinION Sequencing and Genome Assembly. Genomics Proteomics Bioinformatics 14, 265-279.
|
[8] |
Mackie Ogilvie, C., and P. N. Scriven, 2002. Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos. Eur J Hum Genet 10, 801-806.
|
[9] |
Ogilvie, C. M., P. Braude and P. N. Scriven, 2001. Successful pregnancy outcomes after preimplantation genetic diagnosis (PGD) for carriers of chromosome translocations. Hum Fertil (Camb) 4, 168-171.
|
[10] |
Pehlivan, T., C. Rubio, L. Rodrigo, J. Remohi, A. Pellicer and C. Simon, 2003. Preimplantation genetic diagnosis by fluorescence in situ hybridization: clinical possibilities and pitfalls. J Soc Gynecol Investig 10, 315-322.
|
[11] |
Suzumori, N., and M. Sugiura-Ogasawara, 2010. Genetic factors as a cause of miscarriage. Curr Med Chem 17, 3431-3437.
|
[12] |
Treff, N. R., X. Tao, W. J. Schillings, P. A. Bergh, R. T. Scott, Jr. and B. Levy, 2011. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril 96, e58-65.
|
[13] |
Treff, N. R., K. Thompson, M. Rafizadeh, M. Chow, L. Morrison, X. Tao, H. Garnsey, C. V. Reda, T. L. Metzgar, S. Neal, C. Jalas, R. T. Scott, Jr. and E. J. Forman, 2016. SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts. J Assist Reprod Genet 33, 1115-1119.
|
[14] |
Vandeweyer, G., and R. F. Kooy, 2009. Balanced translocations in mental retardation. Hum Genet 126, 133-147.
|
[15] |
Wang, L., J. Shen, D. S. Cram, M. Ma, H. Wang, W. Zhang, J. Fan, Z. Gao, L. Zhang, Z. Li, M. Xu, D. A. Leigh, A. O. Trounson, J. Liu and Y. Yao, 2017. Preferential selection and transfer of euploid noncarrier embryos in preimplantation genetic diagnosis cycles for reciprocal translocations. Fertil Steril 108, 620-627 e624.
|
[16] |
Warburton, D., 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49, 995-1013.
|
[17] |
Wilton, L., A. Thornhill, J. Traeger-Synodinos, K. D. Sermon and J. C. Harper, 2009. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 24, 1221-1228.
|
[18] |
Xu, J., Z. Zhang, W. Niu, Q. Yang, G. Yao, S. Shi, H. Jin, W. Song, L. Chen, X. Zhang, Y. Guo, Y. Su, L. Hu, J. Zhai, Y. Zhang, F. Dong, Y. Gao, W. Li, S. Bo, M. Hu, J. Ren, L. Huang, S. Lu, X. S. Xie and Y. Sun, 2017. Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos. Proc Natl Acad Sci U S A 114, E8695-E8702.
|
[19] |
Yan, Z., Y. Wang, Y. Nie, X. Zhi, X. Zhu, M. Qin, S. Guan, Y. Ren, Y. Kuo, D. Chang, W. Chen, P. Yuan, L. Yan and J. Qiao, 2018. Identifying normal embryos from reciprocal translocation carriers by whole chromosome haplotyping. J Genet Genomics 45, 505-508.
|
[20] |
Zhang, S., C. Lei, J. Wu, J. Zhou, H. Sun, J. Fu, Y. Sun, X. Sun, D. Lu and Y. Zhang, 2017. The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers. BMC Med Genomics 10, 60.
|