J A Ortiz

No ORCID on file · 2 papers in corpus

other 2022

Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing

Journal of assisted reproduction and genetics ·doi:10.1007/s10815-022-02629-3

PURPOSE: To identify candidate variants in genes possibly associated with premature ovarian insufficiency (POI). METHODS: Fourteen women, from 7 families, affected by idiopathic POI were included. Additionally, 98 oocyte donors of the same…

observational 2018

Comprehensive mitochondrial DNA analysis and IVF outcome

Human reproduction open ·doi:10.1093/hropen/hoy023

STUDY QUESTION: Do mitochondrial DNA (mtDNA) copy number and heteroplasmy in human embryos affect the ongoing pregnancy rate? SUMMARY ANSWER: Our study suggests that mtDNA copy number above a specific threshold is associated with the ongoi…