Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism-Reference-Cited by-同舟云学术

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Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism

Published:2019-05-08 Issue:2 Volume:13 Page:165-173
ISSN:1976-0280
Container-title:BioChip Journal
language:en
Short-container-title:BioChip J

Author:

Shen Xiaoting,Chen Dongjia,Xu Yan,Fu Yu,Zhou Canquan

Publisher

Springer Science and Business Media LLC

Subject

Electrical and Electronic Engineering,Biomedical Engineering,Bioengineering,Biotechnology

Link

http://link.springer.com/content/pdf/10.1007/s13206-018-3207-y.pdf

Reference24 articles.

1. Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.M., Maroteaux, P., Le Merrer, M. & Munnich, A. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371, 252–4 (1994).

2. Shiang, R., Thompson, L.M., Zhu, Y.Z., Church, D.M., Fielder, T.J., Bocian, M., Winokur, S.T. & Wasmuth, J.J. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335–42 (1994).

3. Moutou, C., Rongieres, C., Bettahar-Lebugle, K., Gardes, N., Philippe, C. & Viville, S. Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. Hum. Reprod. 18, 509–514 (2003).

4. Di Rocco, F., Biosse Duplan, M., Heuzé, Y., Kaci, N., Komla-Ebri, D., Munnich, A., Mugniery, E., Benoist-Lasselin, C. & Legeai-Mallet, L. FGFR3 mutation causes abnormal membranous ossification in achondroplasia. Hum. Mol. Genet. 23, 2914–25 (2014).

5. Altarescu, G., Renbaum, P., Brooks, P.B., Margalioth, E.J., Ben Chetrit, A., Munter, G., Levy-Lahad, E. & Eldar-Geva, T. Successful polar body-based preimplantation genetic diagnosis for achondroplasia. Reprod. BioMed. Online 16, 276–82 (2008).

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