In 50 cases, there was a causative mutation in a known monogenicdisease gene.
2
Our findings corroborate PIGP as a monogenicdisease gene for developmental and epileptic encephalopathy.
3
Neurodegenerative monogenicdiseases often affect tissues and organs beyond the nervous system.
4
Several acute monogenicdiseases affect multiple body systems, causing death in childhood.
5
Syndromic forms are in many cases due to chromosomal aberrations or monogenicdiseases.
Ús de polygenic disease en anglès
1
Osteoporosis is a polygenicdisease, whose determining loci have not yet been identified.
2
Human essential hypertension is a polygenicdisease whose phenotypic expression is modulated by the environment.
3
Osteoporosis is a common polygenicdisease and global healthcare priority but its genetic basis remains largely unknown.
4
Genetic studies in patients and mouse models have shown that alopecia areata is a complex, polygenicdisease.
5
Essential hypertension is a complex, polygenicdisease derived from the interaction of patient's genetic background with the environment.
6
Consanguinity increases risk for numerous monogenic and polygenicdiseases.
7
Nutritional genomics aims to prevent, treat, and manage polygenicdiseases through targeted therapies formulated from individuals' genetic makeup and dietary intake.
8
If validated, GMAS may imply that common polygenicdiseases are related as much to group interactions between normal genes, as to multiple gene mutations.