Identification and interruption of inheritance of familial cryptic translocations: A case report
暂无分享,去创建一个
Jie Ding | Jian Ou | Mengxia Ni | Jian Sun | Chuan‐Chun Yang | Qin‐Yan Zou | Shi‐Yu Xing | Chun‐Hua Lin | Qing-Xia Meng | Ai‐Yan Zheng | Yan Zhang | Ling‐Yin Kong | Bo Liang | Hong Li
[1] Xiliang Wang,et al. One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report , 2021, BMC medical genomics.
[2] Jing Liu,et al. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family , 2021, Molecular genetics & genomic medicine.
[3] Yan Xu,et al. Feasibility study of using unbalanced embryos as a reference to distinguish euploid carrier from noncarrier embryos by single nucleotide polymorphism array for reciprocal translocations , 2021, Prenatal diagnosis.
[4] C. Cinnioğlu,et al. Criteria to evaluate patterns of segmental and complete aneuploidies in preimplantation genetic testing for aneuploidy results suggestive of an inherited balanced translocation or inversion , 2020, F&S reports.
[5] Jianguo Chen,et al. Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements , 2020, Reproductive Biology and Endocrinology.
[6] S. Cheung,et al. Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. , 2019, American journal of human genetics.
[7] Yiu Man Chan,et al. Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis. , 2019, American journal of obstetrics and gynecology.
[8] G. Lin,et al. Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings , 2018, Molecular Cytogenetics.
[9] D. Lu,et al. Analysis of segregation patterns of quadrivalent structures and the effect on genome stability during meiosis in reciprocal translocation carriers , 2018, Human reproduction.
[10] D. Lu,et al. The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers , 2017, BMC Medical Genomics.
[11] N. Tommerup,et al. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing , 2017, PloS one.
[12] Qinyan Zou,et al. Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection , 2015, Molecular Cytogenetics.
[13] Ting Wang,et al. Comparison of variations detection between whole-genome amplification methods used in single-cell resequencing , 2015, GigaScience.
[14] Suying Liu,et al. Quadrivalent asymmetry in reciprocal translocation carriers predicts meiotic segregation patterns in cleavage stage embryos. , 2014, Reproductive biomedicine online.
[15] Wufang Fan,et al. Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male. , 2014, Gene.
[16] Xun Xu,et al. A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole‐Genome Low‐Coverage Sequencing , 2014, Human mutation.
[17] L. Rienzi,et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. , 2011, Human reproduction.
[18] D. Griffin,et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes , 2009, Journal of Medical Genetics.
[19] Leslie Roberts,et al. A Proof of Principle , 2007, Science.
[20] U. Mau-Holzmann. Somatic chromosomal abnormalities in infertile men and women , 2005, Cytogenetic and Genome Research.
[21] M. Pertile,et al. Chromosome translocations in couples with in-vitro fertilization implantation failure. , 1999, Human reproduction.
[22] D. Ledbetter,et al. A complete set of human telomeric probes and their clinical application , 1996, Nature Genetics.
[23] L. Regan,et al. An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases. , 1994, Human reproduction.
[24] P. Jacobs,et al. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. , 1992, Journal of medical genetics.
[25] N. Yabe,et al. A cytogenetic survey of 14,835 consecutive liveborns , 1991, Japanese Journal of Human Genetics.