Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.
Jiang Y et al.
Cell Communication and Signaling : Ccs, 2025
Genetic and Clinical Features of 10 Families With Hereditary Sensory Neuropathies.
Xu K et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.
Higashimoto T et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.
Li S et al.
Pain, 2024
A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.
Sun L et al.
Frontiers in Genetics, 2024
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A et al.
Brain : a Journal of Neurology, 2023
Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report.
Zhang M et al.
Bmc Pediatrics, 2022
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Echaniz-Laguna A et al.
Neurogenetics, 2021
Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.
Li L et al.
Frontiers in Pediatrics, 2021
Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.
Yuan T et al.
Frontiers in Oncology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis.
Li N et al.
Journal of Pain Research, 2019
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).
Wang WB et al.
Gene, 2018
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Liu Z et al.
The Journal of International Medical Research, 2018
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Shaikh SS et al.
Human Mutation, 2017
Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.
Lee ST et al.
Muscle & Nerve, 2009
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Geng X et al.
Molecular Pain, 0