Genetics of primary ovarian insufficiency: new developments and opportunities

Y Qin, X Jiao, JL Simpson… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

Genetics of primary ovarian insufficiency: a review

C Fortuño, E Labarta - Journal of assisted reproduction and genetics, 2014 - Springer
Primary ovarian insufficiency is one of the main causes of female infertility owing to an
abnormal ovarian reserve. Its relevance has increased in more recent years due to the fact …

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

M Thakur, G Feldman, EE Puscheck - Journal of assisted reproduction and …, 2018 - Springer
Classic galactosemia is an inborn error of the metabolism with devastating consequences.
Newborn screening has been successful in markedly reducing the acute neonatal symptoms …

[HTML][HTML] The genetics of non-syndromic primary ovarian insufficiency: a systematic review

R Venturella, V De Vivo, A Carlea… - … Journal of Fertility & …, 2019 - ncbi.nlm.nih.gov
Several causes for primary ovarian insufficiency (POI) have been described, including
iatrogenic and environmental factor, viral infections, chronic disease as well as genetic …

Personalized reproductive medicine on the brink: progress, opportunities and challenges ahead

PY Beim, M Elashoff, TT Hu-Seliger - Reproductive biomedicine online, 2013 - Elsevier
Significant progress has been made in several fields of medicine towards personalizing
treatment recommendations based on individual patient genotype. As the number of clinical …

Genetics of premature ovarian failure: new developments in etiology

Y Qin, JL Simpson, ZJ Chen - Genetics of human infertility, 2017 - karger.com
Premature ovarian failure (POF), also termed primary ovarian insufficiency, is a common
disorder in women of reproductive age. This discussion focuses predominately on single …

Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts

JL Simpson - Emery and Rimoin's Principles and Practice of Medical …, 2022 - Elsevier
Hypogonadotropic and hypergonadotropic forms of hypogonadism exist. In the
hypogonadotropic phenotype, functional etiology originates from GnRH neurons in the …

[PDF][PDF] Prematür ovaryen yetmezlikli hastalarda karyotip değerlendirmesi

A Akdöner, M Celiloğlu, E Çağlıyan… - Forbes Tıp …, 2020 - jag.journalagent.com
Amaç: Kromozom anomalileri, prematür ovaryen yetmezliğin önemli nedenlerinden birisidir
ve reprodüktif yönetimde kromozom analizinin önemi doğrulanmıştır. Sayısal ve yapısal …

Primary Ovarian Insufficiency: Current Understanding and Diagnostic Approaches.

R Priya, K Bhaskaran, A Suresh… - Journal of …, 2023 - search.ebscohost.com
Primary ovarian insufficiency (POI) is a medical condition where ovarian function stops
prematurely, typically before the age of 40. This condition leads to infertility and produces …

Genome-Wide Association Studies of Ovarian Function Disorders

CK Leung, H Zhao, Y Lv, G Lu, ZJ Chen - The Ovary, 2019 - Elsevier
Genome-wide association study (GWAS) has revolutionized the identification of causal
genetic variants and the subsequent characterization of complex genetic traits. GWAS is a …