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 …

Primary ovarian insufficiency

M De Vos, P Devroey, BCJM Fauser - The Lancet, 2010 - thelancet.com
Primary ovarian insufficiency is a subclass of ovarian dysfunction in which the cause is
within the ovary. In most cases, an unknown mechanism leads to premature exhaustion of …

Ovarian aging: mechanisms and clinical consequences

FJ Broekmans, MR Soules, BC Fauser - Endocrine reviews, 2009 - academic.oup.com
Menopause is the final step in the process referred to as ovarian ageing. The age related
decrease in follicle numbers dictates the onset of cycle irregularity and the final cessation of …

Primary ovarian insufficiency

LM Nelson - New England Journal of Medicine, 2009 - Mass Medical Soc
A 30-year-old woman presents with a history of no menses since she stopped taking oral
contraceptives 6 months ago in order to conceive. She had undergone normal puberty, with …

Premature Ovarian Insufficiency-an update on recent advances in understanding and management

S Torrealday, P Kodaman, L Pal - F1000Research, 2017 - pmc.ncbi.nlm.nih.gov
Premature ovarian insufficiency is a complex and relatively poorly understood entity with a
myriad of etiologies and multisystem sequelae that stem from premature deprivation of …

Physiological aspects of female fertility: role of the environment, modern lifestyle, and genetics

RJ Hart - Physiological reviews, 2016 - journals.physiology.org
Abstract Across the Western World there is an increasing trend to postpone childbearing.
Consequently, the negative influence of age on oocyte quality may lead to a difficulty in …

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

CK Welt - Clinical endocrinology, 2008 - Wiley Online Library
Premature ovarian failure (POF) is a disorder with a complicated clinical presentation and
course that is poorly defined by its name. A more scientifically accurate term for the disorder …

Advances in the treatment of fragile X syndrome

RJ Hagerman, E Berry-Kravis, WE Kaufmann… - …, 2009 - publications.aap.org
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-
deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with …

[HTML][HTML] Genes involved in human premature ovarian failure

L Persani, R Rossetti… - Journal of molecular …, 2010 - endocrinology-journals.org
Premature ovarian failure (POF) is an ovarian defect characterized by the premature
depletion of ovarian follicles before the age of 40 years, representing one major cause of …

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene

EW Loomis, JS Eid, P Peluso, J Yin, L Hickey… - Genome …, 2013 - genome.cshlp.org
The human fragile X mental retardation 1 (FMR1) gene contains a (CGG) n trinucleotide
repeat in its 5′ untranslated region (5′ UTR). Expansions of this repeat result in a number …