Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.
Xing Y et al.
Frontiers in Genetics, 2025
Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report.
Liu Y et al.
Frontiers in Pediatrics, 2025
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
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
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
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.
Klaassen K et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
A glioneuronal tumor with CLIP2-MET fusion.
Chowdhury T et al.
Npj Genomic Medicine, 2020
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
Rygiel AM et al.
Human Mutation, 2015
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
Németh BC et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014
An overview of hereditary pancreatitis.
Rebours V et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012
Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.
Chua KH et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2011
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
Szmola R et al.
Journal of Medical Genetics, 2010
Copy number variations in chronic pancreatitis.
Chen JM et al.
Cytogenetic and Genome Research, 2008
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.
Teich N et al.
Human Mutation, 2006
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
Teich N et al.
Human Mutation, 2005
[A case of chronic pancreatitis in a young woman with the cationic trypsinogen (PRSS1) gene mutation].
Kakinoki K et al.
Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2002