A whole-genome sequencing–based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations-Reference-Cited by-同舟云学术

A whole-genome sequencing–based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations

Published:2020-08-11 Issue:10 Volume:37 Page:2525-2533
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Yuan Ping,Xia Jun,Ou Songbang,Liu Ping,Du Tao,Zheng Lingyan,Yin Xuyang,Xie Lin,Zhang Sijia,Yan Huijuan,Gao Ya,Zhang Qingxue,Jiang Hui,Chen Fang,Wang Wenjun^ORCID

Funder

the National Natural Science Foundation of China

the Chinese Medical Association clinical medical research special fund, Research and development of young physicians in reproductive medicine

the Shenzhen Birth Defect Screening Project Lab

the Shenzhen Municipal Government of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Developmental Biology,Obstetrics and Gynaecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-020-01921-4.pdf

Reference20 articles.

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2. Mao R, McDonald J, Cantwell M, Tang W, Ward K. The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses. Genet Test. 2005;9:121–5.

3. Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26:33–40.

4. Altarescu G, Eldar-Geva T, Varshower I, Brooks B, Haran EZ, Margalioth EJ, et al. Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations. Hum Reprod. 2009;24:3225–9.

5. Chen L, Diao Z, Xu Z, Zhou J, Yan G, Sun H. The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta. Syst Biol Reprod Med. 2019;65:75–80.

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