Clinical management of congenital hypogonadotropic hypogonadism

J Young, C Xu, GE Papadakis, JS Acierno… - Endocrine …, 2019 - academic.oup.com
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
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 …

[HTML][HTML] Determinants of base editing outcomes from target library analysis and machine learning

M Arbab, MW Shen, B Mok, C Wilson, Ż Matuszek… - Cell, 2020 - cell.com
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 …

[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 …

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 …

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 …

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 …

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 …

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 …

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 …