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 …
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 …
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 …
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
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 …
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 …
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 …
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
Primary ovarian insufficiency (POI), also known as premature ovarian failure, is a disorder of
infertility characterized by amenorrhoea, low estrogen levels and increased gonadotropin …
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 …
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 …
(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 …
(fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and …