Associated Papers
Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.
Sierra-Rivera A et al.
Laboratory Medicine, 2026
A Novel Inflammatory Autoimmune-Like NTRK1-Associated Phenotype in an Adult Man.
Karabinos A et al.
Molecular Syndromology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 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
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Cho JH et al.
Molecular Genetics & Genomic Medicine, 2024
Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.
Xu Q et al.
Medicine, 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
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis.
Hong EJ et al.
Annals of Dermatology, 2023
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Congenital insensitivity to pain with anhidrosis: A report of two unrelated Chinese families with novel mutations in NTRK1 gene.
Li Y et al.
Medicina Clinica, 2021
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Li S et al.
Molecular Genetics & Genomic Medicine, 2021
Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.
Li L et al.
Frontiers in Pediatrics, 2021
Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis.
Yang K et al.
Frontiers in Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.
Zhao F et al.
European Journal of Neurology, 2020
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese A et al.
Neurology, 2020
[Congenital insensitivity to pain with anhidrosis: A case report and literature review].
Chen Y et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2019
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
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 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
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.
Nam TS et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.
Lv F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis.
Wang T et al.
The Journal of International Medical Research, 2017
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.
Wang QL et al.
Pediatric Neurology, 2016
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.
Jung CL et al.
Journal of Child Neurology, 2013
Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.
Indo Y
Clinical Genetics, 2012
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Li M et al.
Genetics and Molecular Research : Gmr, 2012
Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.
Lee ST et al.
Muscle & Nerve, 2009
Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.
Guo YC et al.
European Neurology, 2004
Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
Indo Y
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2002
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
Indo Y
Human Mutation, 2001