User profiles for Gianpiero L. Cavalleri
gianpiero cavalleriProfessor of Human Genetics, the Royal College of Surgeons in Ireland Verified email at rcsi.ie Cited by 16091 |
[HTML][HTML] The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a
collaborative network of researchers working together on a range of large-scale studies that …
collaborative network of researchers working together on a range of large-scale studies that …
Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review
This review examines the association of a subset of endothelial nitric oxide synthase gene (NOS3)
polymorphisms (Glu298Asp, intron 4, and -786T>C) with cardiovascular disease. The …
polymorphisms (Glu298Asp, intron 4, and -786T>C) with cardiovascular disease. The …
Epilepsy in the mTORopathies: opportunities for precision medicine
PB Moloney, GL Cavalleri, N Delanty - Brain communications, 2021 - academic.oup.com
The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …
cell metabolism, growth, proliferation and survival. The main cellular activity of the …
Identification of common variants associated with human hippocampal and intracranial volumes
Identifying genetic variants influencing human brain structures may reveal new biological
mechanisms underlying cognition and neuropsychiatric illness. The volume of the …
mechanisms underlying cognition and neuropsychiatric illness. The volume of the …
Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders
CM Beall, GL Cavalleri, L Deng… - Proceedings of the …, 2010 - National Acad Sciences
By impairing both function and survival, the severe reduction in oxygen availability associated
with high-altitude environments is likely to act as an agent of natural selection. We used …
with high-altitude environments is likely to act as an agent of natural selection. We used …
[HTML][HTML] HLA-A* 3101 and carbamazepine-induced hypersensitivity reactions in Europeans
…, P Deloukas, N Delanty, GL Cavalleri… - … England Journal of …, 2011 - Mass Medical Soc
Background Carbamazepine causes various forms of hypersensitivity reactions, ranging from
maculopapular exanthema to severe blistering reactions. The HLA-B*1502 allele has been …
maculopapular exanthema to severe blistering reactions. The HLA-B*1502 allele has been …
Excavating Y-chromosome haplotype strata in Anatolia
Abstract Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52
distinct haplotypes with considerable haplogroup substructure, as exemplified by their …
distinct haplotypes with considerable haplogroup substructure, as exemplified by their …
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
Progressive functional decline in the epilepsies is largely unexplained. We formed the
ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, …
ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, …
[HTML][HTML] Novel genetic loci associated with hippocampal volume
…, VD Calhoun, DM Cannon, GL Cavalleri - Nature …, 2017 - nature.com
The hippocampal formation is a brain structure integrally involved in episodic memory, spatial
navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal …
navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal …
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin
…, SM Sisodiya, GL Cavalleri… - Proceedings of the …, 2005 - National Acad Sciences
Phenytoin and carbamazepine are effective and inexpensive anti-epileptic drugs (AEDs).
As with many AEDs, a broad range of doses is used, with the final “maintenance” dose …
As with many AEDs, a broad range of doses is used, with the final “maintenance” dose …