Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice-Reference-Cited by-同舟云学术

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Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

Published:2018-04-30 Issue:9 Volume:26 Page:1319-1328
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tucker Elena J.,Grover Sonia R.,Robevska Gorjana,van den Bergen Jocelyn,Hanna Chloe,Sinclair Andrew H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0140-4.pdf

Reference39 articles.

1. Haller-Kikkatalo K, Uibo R, Kurg A, Salumets A. The prevalence and phenotypic characteristics of spontaneous premature ovarian failure: a general population registry-based study. Hum Reprod. 2015;30:1229–38.

2. Tucker EJ, Grover SR, Bachelot A, Touraine P, Sinclair AH. Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum. Endocr Rev. 2016;37:609–35.

3. Eggers S, Sadedin S, van den Bergen JA, et al. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016;17:243.

4. Varon R, Dutrannoy V, Weikert G, et al. Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Hum Mol Genet. 2006;15:679–89.

5. Sadedin SP, Dashnow H, James PA, et al. Cpipe: a shared variant detection pipeline designed for diagnostic settings. Genome Med. 2015;7:68.

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