Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
about
Nerve growth factor-mediated regulation of pain signalling and proposed new intervention strategies in clinical pain managementWhole genome sequencing of one complex pedigree illustrates challenges with genomic medicineMolecular basis of autosomal recessive diseases among the Palestinian Arabs.Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Pharmacogenetics of new analgesics.Congenital Insensitivity to Pain and Anhydrosis: Diagnostic and Therapeutic Dilemmas revisited.Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General AnesthesiaMolecular genetics of hereditary sensory neuropathies.Identification of pyrazine-based TrkA inhibitors: design, synthesis, evaluation, and computational modeling studies.Neurotrophins and peripheral neuropathies.Genetic mutations that prevent pain: implications for future pain medication.Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosisThe Israeli National Genetic database: a 10-year experience.Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.Brief Report: The Negev Hospital-University-Based (HUB) Autism Database.Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV.Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.Congenital insensitivity to pain with anhidrosis in Sudanese children.In vivo confocal microscopy of hereditary sensory and autonomic neuropathy.Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis.The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis.Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.Hereditary sensory and autonomic neuropathy types IV and V in Japan.Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.Genetic studies of human neuropathic pain conditions: a review.
P2860
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P2860
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
description
2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2000 թվականի հունիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Congenital insensitivity to pa ...... s of nerve conduction studies.
@ast
Congenital insensitivity to pa ...... s of nerve conduction studies.
@en
type
label
Congenital insensitivity to pa ...... s of nerve conduction studies.
@ast
Congenital insensitivity to pa ...... s of nerve conduction studies.
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prefLabel
Congenital insensitivity to pa ...... s of nerve conduction studies.
@ast
Congenital insensitivity to pa ...... s of nerve conduction studies.
@en
P2093
P2860
P921
P1476
Congenital insensitivity to pa ...... s of nerve conduction studies.
@en
P2093
Hershkovitz E
P2860
P304
P356
10.1002/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C
P577
2000-06-01T00:00:00Z