Genetics of ovarian insufficiency and defects of folliculogenesis

MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

Genetics of premature ovarian insufficiency and the association with X-autosome translocations

A Di-Battista, M Moysés-Oliveira… - Reproduction, 2020 - rep.bioscientifica.com
Premature ovarian insufficiency (POI) is the cessation of menstruation before the age of 40
and can result from different etiologies, including genetic, autoimmune, and iatrogenic. Of …

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

A Heddar, C Ogur, S Da Costa, I Braham… - …, 2022 - thelancet.com
Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

Genetics of primary ovarian insufficiency in the next-generation sequencing era

MM França, BB Mendonca - Journal of the Endocrine Society, 2020 - academic.oup.com
Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency

MM Franca, MFA Funari, AM Lerario, MG Santos… - PLoS …, 2020 - journals.plos.org
Primary ovarian insufficiency (POI) is a heterogeneous disorder associated with several
genes. The majority of cases are still unsolved. Our aim was to identify the molecular …

Loss of Nobox prevents ovarian differentiation from juvenile ovaries in zebrafish

M Qin, Q Xie, K Wu, X Zhou, W Ge - Biology of Reproduction, 2022 - academic.oup.com
As a species without master sex-determining genes, zebrafish displays high plasticity in sex
differentiation, making it an excellent model for studying the regulatory mechanisms …

[HTML][HTML] SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

AM Lerario, DR Mohan, LR Montenegro, MFA Funari… - Clinics, 2020 - SciELO Brasil
OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused
gene panels is becoming increasingly common for molecular diagnostics. However …

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

MM Franca, X Han, MFA Funari… - The Journal of …, 2019 - academic.oup.com
Context Primary ovarian insufficiency (POI) is a cause of female infertility. However, the
genetic etiology of this disorder remains unknown in most patients with POI. Objective To …

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

B Chen, L Li, J Wang, T Li, H Pan, B Liu, Y Zhou… - Journal of ovarian …, 2018 - Springer
Background To dissect the genetic alteration in two sisters with premature ovarian
insufficiency (POI) from a consanguineous family. Methods Whole-exome sequencing …

Ambiguous genitalia

SF Witchel, PA Lee - Sperling Pediatric Endocrinology, 2021 - Elsevier
Disorders of sex development (DSDs) comprise a spectrum of disorders in which
chromosomal, genetic, gonadal, hormonal, or anatomic aspects of sex are atypical …