Significats de monogenic disease en anglès

In 50 cases, there was a causative mutation in a known monogenic disease gene.

Our findings corroborate PIGP as a monogenic disease gene for developmental and epileptic encephalopathy.

Neurodegenerative monogenic diseases often affect tissues and organs beyond the nervous system.

Several acute monogenic diseases affect multiple body systems, causing death in childhood.

Syndromic forms are in many cases due to chromosomal aberrations or monogenic diseases.

The inherited disorders of hemoglobin synthesis constitute the most common monogenic diseases worldwide.

Conclusions: Targeted sequencing of maternal plasma DNA for NIPD of monogenic diseases is feasible.

As these two diseases are monogenic diseases, they make an attractive setting for gene therapy.

These tests were expensive and targeted only at people with family histories of so-called monogenic diseases.

The present work demonstrates the feasibility of gene editing-based therapeutics toward monogenic diseases such as CF.

The detection platform can also be extended to analyze the mutational profiles of other monogenic diseases.

They expected to find maybe one person with a marker for one of those rare, monogenic diseases.

In the last decades the molecular basis of monogenic diseases has been largely unraveled, although their treatment has often remained unsatisfactory.

Retinal neurodegenerative diseases are especially attractive targets for gene replacement therapy, which appears to be clinically effective for several monogenic diseases.

Analyzing rare trophoblastic cells from Papanicolaou smears carrying the entire fetal genome provides an alternative method for noninvasive detection of monogenic diseases.

Gene therapy is a promising treatment option for monogenic diseases, but success has been seen in only a handful of studies thus far.