22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency-Reference-Cited by-同舟云学术

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

Published:2018-03-14 Issue:5 Volume:63 Page:691-698
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Jaillard Sylvie^ORCID,Tucker Elena J,Akloul Linda,Beaumont Marion,Domin Mathilde,Pasquier Laurent,Jouve Guilhem,Odent Sylvie,Belaud-Rotureau Marc-Antoine,Ravel Célia

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0433-z.pdf

Reference29 articles.

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3. Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D. Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet. 2012;13:122.

4. Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, Mota-Vieira L. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. BMC Pediatr. 2015;15:95.

5. Tucker T, Giroux S, Clément V, Langlois S, Friedman JM, Rousseau F. Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. Mol Genet Genom Med. 2013;1:87–97.

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