30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

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 …

[图书][B] Clinical gynecologic endocrinology and infertility

L Speroff, MA Fritz - 2005 - books.google.com
Established as one of the world's most widely read gynecology texts, Clinical Gynecologic
Endocrinology and Infertility is now in its Seventh Edition. In a clear, user-friendly style …

Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum

EJ Tucker, SR Grover, A Bachelot, P Touraine… - Endocrine …, 2016 - academic.oup.com
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

Premature ovarian failure

D Goswami, GS Conway - Human reproduction update, 2005 - academic.oup.com
Premature ovarian failure (POF) causing hypergonadotrophic hypogonadism occurs in 1%
of women. In majority of cases the underlying cause is not identified. The known causes …

Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy

YM van Kasteren, J Schoemaker - Human reproduction update, 1999 - academic.oup.com
Infertility is an important issue for patients with premature ovarian failure (POF). Although
oocyte donation offers an alternative method to achieve a pregnancy, many patients seek to …

Anti-Müllerian hormone: an ovarian reserve marker in primary ovarian insufficiency

JA Visser, I Schipper, JSE Laven… - Nature Reviews …, 2012 - nature.com
Primary ovarian insufficiency (POI), also known as premature ovarian failure, is a disorder of
infertility characterized by amenorrhoea, low estrogen levels and increased gonadotropin …

Premature ovarian failure in the fragile X syndrome

SL Sherman - American journal of medical genetics, 2000 - Wiley Online Library
The full mutation leading to the fragile X syndrome is a dynamic trinucleotide repeat located
in the 5′ untranslated region of the FMR1 gene. The premutation allele contains …

The fragile-X premutation: a maturing perspective

PJ Hagerman, RJ Hagerman - The American Journal of Human Genetics, 2004 - cell.com
Carriers of premutation alleles (55–200 CGG repeats) of the fragile-X mental retardation 1
(FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent …

[HTML][HTML] The FMR1 premutation and reproduction

MD Wittenberger, RJ Hagerman, SL Sherman… - Fertility and sterility, 2007 - Elsevier
OBJECTIVE: To update clinicians on the reproductive implications of premutations in FMR1
(fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and …