This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
The mammalian cerebral cortex supports cognitive functions such as sensorimotor integration, memory, and social behaviors. Normal brain function relies on a diverse set of …
JS Lucas, SD Davis, H Omran… - The Lancet Respiratory …, 2020 - thelancet.com
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired function of motile cilia causes failure of mucociliary clearance. Patients typically present with …
A finely regulated system of airway epithelial development governs the differentiation of motile ciliated cells of the human respiratory tract, conferring the body's mucociliary …
C Coutton, J Escoffier, G Martinez… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Male infertility affects> 20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis which has …
C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …
Nutrient pollution of freshwater ecosystems results in predictable increases in carbon (C) sequestration by algae. Tests of nutrient enrichment on the fates of terrestrial organic C …
A Horani, TW Ferkol, SK Dutcher, SL Brody - Paediatric respiratory reviews, 2016 - Elsevier
Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure and function. Our understanding of the complex genetic and functional phenotypes of these …