Associated Papers
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Dermine S et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
Chen JM et al.
Genes, 2021
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB et al.
Clinical and Translational Gastroenterology, 2018
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2018
Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Beer S et al.
Gut, 2013
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
Masson E et al.
Plos One, 2013
Chymotrypsin C mutations in chronic pancreatitis.
Zhou J et al.
Journal of Gastroenterology and Hepatology, 2011
Genetics of pancreatitis: a guide for clinicians.
Witt H
Digestive Diseases (basel, Switzerland), 2010
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
Masson E et al.
Human Genetics, 2008
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
Rosendahl J et al.
Nature Genetics, 2008