User profiles for Gianpiero L. Cavalleri

gianpiero cavalleri

Professor 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

…, MA Carless, X Caseras, GL Cavalleri… - Brain imaging and …, 2014 - Springer
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 …

Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review

…, GL Cavalleri, LE Bautista, L Smeeth… - American journal of …, 2006 - academic.oup.com
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 …

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 …

Identification of common variants associated with human hippocampal and intracranial volumes

…, CD Whelan, I Agartz, DI Boomsma, GL Cavalleri… - Nature …, 2012 - nature.com
Identifying genetic variants influencing human brain structures may reveal new biological
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 …

[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 …

Excavating Y-chromosome haplotype strata in Anatolia

…, R King, T Kivisild, E Kalfoğlu, S Atasoy, GL Cavalleri… - Human genetics, 2004 - Springer
Abstract Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52
distinct haplotypes with considerable haplogroup substructure, as exemplified by their …

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

…, C Carlson, GL Cavalleri, F Cendes, L Concha… - Brain, 2018 - academic.oup.com
Progressive functional decline in the epilepsies is largely unexplained. We formed the
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 …

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 …