Systematic review of central pancreatectomy and meta-analysis of central versus distal pancreatectomy

…, T Campagnaro, C Bacchelli… - Journal of British …, 2013 - academic.oup.com
Background Central pancreatectomy (CP) is a parenchyma-sparing surgical procedure that
enables the removal of benign and/or low-grade malignant lesions from the neck and …

[HTML][HTML] Managing Bardet–Biedl syndrome—now and in the future

E Forsythe, J Kenny, C Bacchelli, PL Beales - Frontiers in pediatrics, 2018 - frontiersin.org
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by
defects in genes encoding for proteins that localize to the primary cilium/basal body …

Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency

C Bacchelli, S Buckridge, AJ Thrasher… - Clinical & …, 2007 - academic.oup.com
Common variable immunodeficiency (CVID) is a primary immunodeficiency that typically
affects adults and is characterized by abnormalities of quantative and qualitative humoral …

[PDF][PDF] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease

…, W Astle, A Attwood, S Austin, C Bacchelli… - The American Journal of …, 2017 - cell.com
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

PL Beales, E Bland, JL Tobin, C Bacchelli, B Tuysuz… - Nature …, 2007 - nature.com
Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often
leads to death in infancy because of a severely constricted thoracic cage and respiratory …

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

I Slade, C Bacchelli, H Davies, A Murray… - Journal of medical …, 2011 - jmg.bmj.com
Background Constitutional DICER1 mutations were recently reported to cause familial
pleuropulmonary blastoma (PPB). Aim To investigate the contribution and phenotypic …

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency …

U Salzer, C Bacchelli, S Buckridge… - Blood, The Journal …, 2009 - ashpublications.org
TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin
ligand interactor (TACI), a B cell–specific tumor necrosis factor (TNF) receptor superfamily …

[HTML][HTML] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

…, R Antrobus, G Arumugakani, C Bacchelli… - Journal of allergy and …, 2018 - Elsevier
Background The genetic cause of primary immunodeficiency disease (PID) carries
prognostic information. Objective We conducted a whole-genome sequencing study …

[PDF][PDF] Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

FR Goodman, C Bacchelli, AF Brady, LA Brueton… - The American Journal of …, 2000 - cell.com
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the
distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has …

Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years

…, K Gilmour, HH Uhlig, C Bacchelli… - Journal of Crohn's …, 2017 - academic.oup.com
Objectives: Inflammatory bowel disease [IBD] presenting in early childhood is extremely
rare. More recently, progress has been made to identify children with monogenic forms of …