Associated Papers
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Masson E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Expanding ACMG variant classification guidelines into a general framework.
Masson E et al.
Human Genomics, 2022
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
A glioneuronal tumor with CLIP2-MET fusion.
Chowdhury T et al.
Npj Genomic Medicine, 2020
The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.
Lener MR et al.
Cancer Research and Treatment, 2017
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
Németh BC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
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
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
Szmola R et al.
Journal of Medical Genetics, 2010
Inherited susceptibility to common cancers.
Foulkes WD
The New England Journal of Medicine, 2008
Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
Kalinin VN et al.
World Journal of Gastroenterology, 2006
Trypsinogen mutations in pancreatic disorders.
Vitone LJ et al.
Endocrinology and Metabolism Clinics of North America, 2006
A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene.
Pho-Iam T et al.
World Journal of Gastroenterology, 2005
Cationic trypsinogen mutations and pancreatitis.
Howes N et al.
Gastroenterology Clinics of North America, 2004
"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.
Chen JM et al.
Molecular Genetics and Metabolism, 2003