Diagnosis and treatment of tuberculosis in children

D Shingadia, V Novelli - The Lancet infectious diseases, 2003 - thelancet.com
There has been a recent global resurgence of tuberculosis in both resource—limited and
some resource—rich countries. Several factors have contributed to this resurgence …

Association of the FOXO3A locus with extreme longevity in a southern Italian centenarian study

…, A Malovini, R Roncarati, V Novelli… - Annual Review of …, 2009 - liebertpub.com
A number of potential candidate genes in a variety of biological pathways have been
associated with longevity in model organisms. Many of these genes have human homologs …

The radiological spectrum of invasive aspergillosis in children: a 10-year review

KE Thomas, CM Owens, PA Veys, V Novelli… - Pediatric radiology, 2003 - Springer
Background Invasive aspergillosis is an uncommon but life-threatening event in the
immunocompromised child. Attempts at fungal isolation are often unrewarding and a high …

HIV evolution: CTL escape mutation and reversion after transmission

…, G Taylor, H Lyall, G Tudor-Williams, V Novelli… - Nature medicine, 2004 - nature.com
Within-patient HIV evolution reflects the strong selection pressure driving viral escape from
cytotoxic T-lymphocyte (CTL) recognition. Whether this intrapatient accumulation of escape …

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

…, D Edgar, J Clarke, VA Oxelius, M Brai, V Novelli… - Nature …, 1999 - nature.com
The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine
and environmental mycobacteria in humans remains largely unknown. We describe 18 …

Frontotemporal dementia and its subtypes: a genome-wide association study

…, G Logroscino, R Capozzo, V Novelli… - The Lancet …, 2014 - thelancet.com
Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad
range of clinical manifestations, differential pathological signatures, and genetic variability …

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

…, D Richter, F Haerynck, F De Baets, V Novelli… - Medicine, 2010 - journals.lww.com
Interleukin-12 receptor A1 (IL-12RA1) deficiency is the most common form of Mendelian
susceptibility to mycobacterial disease (MSMD). We undertook an international survey of …

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

…, A Pfenniger, H Chkourko Gusky, V Novelli… - Circulation, 2014 - Am Heart Assoc
Background—Brugada syndrome (BrS) primarily associates with the loss of sodium channel
function. Previous studies showed features consistent with sodium current (I Na) deficit in …

Tuberculosis of the central nervous system in children: a 20-year survey

NJ Farinha, KA Razali, H Holzel, G Morgan… - Journal of infection, 2000 - Elsevier
Objective: To review our experience of central nervous system (CNS) tuberculosis at a major
British paediatric tertiary referral centre, following the introduction of CT Scan facilities …

An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome

A Adler, V Novelli, AS Amin, E Abiusi, M Care… - Circulation, 2020 - Am Heart Assoc
Background: Long QT syndrome (LQTS) is the first described and most common inherited
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this …