Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

Monday, June 29, 2015
We found that ADAMTS19 and BMPR2 mutations might be related to premature ovarian failure (POF) pathogenesis. We proposed that heterozygous LHCGR mutations might contribute, with variants in further POF genes, toward premature menopause.

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Regulatory role of microRNAs in ovarian function

Sunday, June 1, 2014
MicroRNAs have a fundamental role in the regulation of gene expression in the ovary. Research on the role in physiological and dysfunctional ovulation may offer new diagnostic and therapeutic strategies.

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Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure

Monday, March 31, 2014
In large cohorts of Chinese and Serbian women with nonsyndromic premature ovarian failure, 11 novel heterozygous variants were identified in SOHLH2, with several predicted to be deleterious.

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CBX2 gene analysis in patients with 46 XY and 46 XX gonadal disorders of sex development

Friday, March 1, 2013
CBX2 gene disruption, described in one case of 46,XY ovarian disorder of sex development (DSD), is not a common cause of other gonadal DSD forms.

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