Clinical management of congenital hypogonadotropic hypogonadism
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …
The fibroblast growth factor signaling pathway
DM Ornitz, N Itoh - Wiley Interdisciplinary Reviews …, 2015 - Wiley Online Library
The signaling component of the mammalian Fibroblast Growth Factor (FGF) family is
comprised of eighteen secreted proteins that interact with four signaling tyrosine kinase FGF …
comprised of eighteen secreted proteins that interact with four signaling tyrosine kinase FGF …
[HTML][HTML] Determinants of base editing outcomes from target library analysis and machine learning
Although base editors are widely used to install targeted point mutations, the factors that
determine base editing outcomes are not well understood. We characterized sequence …
determine base editing outcomes are not well understood. We characterized sequence …
[HTML][HTML] European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
U Boehm, PM Bouloux, MT Dattani… - Nature Reviews …, 2015 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …
Anosmia—a clinical review
S Boesveldt, EM Postma, D Boak… - Chemical …, 2017 - academic.oup.com
Anosmia and hyposmia, the inability or decreased ability to smell, is estimated to afflict 3–
20% of the population. Risk of olfactory dysfunction increases with old age and may also …
20% of the population. Risk of olfactory dysfunction increases with old age and may also …
Paediatric and adult-onset male hypogonadism
A Salonia, G Rastrelli, G Hackett… - Nature reviews Disease …, 2019 - nature.com
The hypothalamic–pituitary–gonadal axis is of relevance in many processes related to the
development, maturation and ageing of the male. Through this axis, a cascade of …
development, maturation and ageing of the male. Through this axis, a cascade of …
Cleft lip and palate: understanding genetic and environmental influences
MJ Dixon, ML Marazita, TH Beaty… - Nature Reviews Genetics, 2011 - nature.com
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can
occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic …
occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic …
Orofacial clefts embryology, classification, epidemiology, and genetics
G Nasreddine, J El Hajj… - … Research/Reviews in …, 2021 - Elsevier
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …
United States after Down syndrome and are the most common head and neck congenital …
Genetics of cleft lip and cleft palate
EJ Leslie, ML Marazita - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …
Kisspeptins and reproduction: physiological roles and regulatory mechanisms
L Pinilla, E Aguilar, C Dieguez, RP Millar… - Physiological …, 2012 - journals.physiology.org
Procreation is essential for survival of species. Not surprisingly, complex neuronal networks
have evolved to mediate the diverse internal and external environmental inputs that regulate …
have evolved to mediate the diverse internal and external environmental inputs that regulate …