Developmental and genetic disorders in spermatogenesis

Developmental and genetic disorders in spermatogenesis.

The most common cause of male infertility is idiopathic. Fresh insights based on genetic and molecular analysis of the human genome permit classification of formerly unexplained disorders in spermatogenesis. In this article, we review new procedures that expand diagnostic and therapeutic approaches to male infertility. Recombinant DNA technology makes it possible to detect specific chromosomal ...

Developmental Trajectories in Genetic Disorders

As the cognitive system develops over infancy and through childhood, profound changes in capacity and complexity occur. It is no surprise, then, that neurodevelopmental disorders of genetic origin are emergent over time. Characteristic cognitive profiles arise as neurodevelopmental

Using developmental trajectories to understand genetic disorders

The developmental biology of genetic Notch disorders.

Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function...

Disorders of spermatogenesis

Zusammenfassung medgen 2018 · 30:12–20 https://doi.org/10.1007/s11825-018-0181-7 © The Author(s) 2018. This article is an open access publication. F. Tüttelmann · C. Ruckert · A. Röpke Disorders of spermatogenesis. Perspectives for novel genetic diagnostics after 20 years of unchanged routine