Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease
B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …
Hypothalamic-pituitary-ovarian axis disorders impacting female fertility
S Mikhael, A Punjala-Patel, L Gavrilova-Jordan - Biomedicines, 2019 - mdpi.com
The hypothalamic-pituitary-ovarian (HPO) axis is a tightly regulated system controlling
female reproduction. HPO axis dysfunction leading to ovulation disorders can be classified …
female reproduction. HPO axis dysfunction leading to ovulation disorders can be classified …
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of …
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare,
related diseases that prevent normal pubertal development and cause infertility in affected …
related diseases that prevent normal pubertal development and cause infertility in affected …
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
Objective Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of
growth and puberty (CDGP) represent rare and common forms of GnRH deficiency …
growth and puberty (CDGP) represent rare and common forms of GnRH deficiency …
Congenital hypogonadotropic hypogonadism and Kallmann syndrome: past, present, and future
SH Kim - Endocrinology and metabolism, 2015 - synapse.koreamed.org
The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG) axis
are essential for normal reproductive competence. The key factor that regulates the function …
are essential for normal reproductive competence. The key factor that regulates the function …
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism
C Bouvattier, L Maione, J Bouligand, C Dodé… - Nature Reviews …, 2012 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) causes pubertal failure and infertility in
both women and men due to partial or total secretory failure of the two pituitary …
both women and men due to partial or total secretory failure of the two pituitary …
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory
AL Mitchell, A Dwyer, N Pitteloud, R Quinton - Trends in Endocrinology & …, 2011 - cell.com
Idiopathic hypogonadotropic hypogonadism (IHH) is defined by absent or incomplete
puberty and characterised biochemically by low levels of sex steroids, with low or …
puberty and characterised biochemically by low levels of sex steroids, with low or …
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
J Young, C Metay, J Bouligand, B Tou… - Human …, 2012 - academic.oup.com
BACKGROUND Kallmann syndrome (KS) is a genetic disorder associating pubertal failure
with congenitally absent or impaired sense of smell. KS is related to defective neuronal …
with congenitally absent or impaired sense of smell. KS is related to defective neuronal …
Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model: adjusting to life in the “-omics” era
MI Stamou, KH Cox, WF Crowley Jr - Endocrine reviews, 2015 - academic.oup.com
The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite
coordination of an assortment of cellular networks, all converging on the GnRH neurons …
coordination of an assortment of cellular networks, all converging on the GnRH neurons …