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Journal Abstract Search

252 related items for PubMed ID: 27184211

  • 1. Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
    Kurth I, Baumgartner M, Schabhüttl M, Tomni C, Windhager R, Strom TM, Wieland T, Gremel K, Auer-Grumbach M.
    Am J Med Genet B Neuropsychiatr Genet; 2016 Sep; 171(6):875-8. PubMed ID: 27184211
    [Abstract] [Full Text] [Related]

  • 2. 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.
    Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.
    Hum Mutat; 2001 Oct; 18(4):308-18. PubMed ID: 11668614
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  • 4. Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.
    Nam TS, Li W, Yoon S, Eom GH, Kim MK, Jung ST, Choi SY.
    J Peripher Nerv Syst; 2017 Jun; 22(2):92-99. PubMed ID: 28177573
    [Abstract] [Full Text] [Related]

  • 5. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
    Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B.
    Neuromuscul Disord; 2008 Feb; 18(2):159-66. PubMed ID: 18077166
    [Abstract] [Full Text] [Related]

  • 6. Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.
    Zhao F, Mao B, Geng X, Ren X, Wang Y, Guan Y, Li S, Li L, Zhang S, You Y, Cao Y, Yang T, Zhao X.
    Eur J Neurol; 2020 Aug; 27(8):1697-1705. PubMed ID: 32219930
    [Abstract] [Full Text] [Related]

  • 7. Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).
    Wang WB, Cao YJ, Lyu SS, Zuo RT, Zhang ZL, Kang QL.
    Gene; 2018 Dec 30; 679():253-259. PubMed ID: 30201336
    [Abstract] [Full Text] [Related]

  • 8. A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.
    Sarasola E, Rodríguez JA, Garrote E, Arístegui J, García-Barcina MJ.
    BMC Med Genet; 2011 Jun 27; 12():86. PubMed ID: 21708027
    [Abstract] [Full Text] [Related]

  • 9. Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
    Li S, Hu HY, Xu JJ, Feng ZK, Sun YQ, Chen X, Yang K, Li YZ, Zhang DL.
    Mol Genet Genomic Med; 2021 Nov 27; 9(11):e1839. PubMed ID: 34674383
    [Abstract] [Full Text] [Related]

  • 10. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
    Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.
    Hum Mutat; 2001 Nov 27; 17(1):72. PubMed ID: 11139246
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Clin Auton Res; 2002 May 27; 12 Suppl 1():I20-32. PubMed ID: 12102460
    [Abstract] [Full Text] [Related]

  • 12. Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family.
    Algahtani H, Naseer MI, Al-Qahtani M, Abdulrahman SA, Boker F, Shirah B.
    J Neurol Sci; 2016 Nov 15; 370():35-38. PubMed ID: 27772781
    [Abstract] [Full Text] [Related]

  • 13. Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
    Li M, Liang JY, Sun ZH, Zhang H, Yao ZR.
    Genet Mol Res; 2012 Aug 13; 11(3):2156-62. PubMed ID: 22653642
    [Abstract] [Full Text] [Related]

  • 14. A rare case of congenital insensitivity to pain with anhidrosis.
    Sreenivasan V, Karunakar P, Madhileti S, Govindaswamy Ramamoorthy J, Gulati R.
    Paediatr Int Child Health; 2024 Aug 13; 44(2):59-62. PubMed ID: 38659257
    [Abstract] [Full Text] [Related]

  • 15. Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis.
    Lee ST, Lee J, Lee M, Kim JW, Ki CS.
    Muscle Nerve; 2009 Nov 13; 40(5):855-9. PubMed ID: 19618435
    [Abstract] [Full Text] [Related]

  • 16. Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
    Geng X, Liu Y, Ren X, Guan Y, Wang Y, Mao B, Zhao X, Zhang X.
    Mol Pain; 2018 Nov 13; 14():1744806918781140. PubMed ID: 29770739
    [Abstract] [Full Text] [Related]

  • 17. 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.
    Hum Mutat; 2001 Dec 13; 18(6):462-71. PubMed ID: 11748840
    [Abstract] [Full Text] [Related]

  • 18. 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, Li H, Xiang J, Wei B, Zhang Q, Zhu Q, Liu M, Sun M, Li H.
    J Int Med Res; 2017 Apr 13; 45(2):549-555. PubMed ID: 28345382
    [Abstract] [Full Text] [Related]

  • 19. A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.
    Sun L, Dai J, Zhang Y, Zhou L, Ren Y, Wang H.
    Front Genet; 2024 Apr 13; 15():1345081. PubMed ID: 38798698
    [Abstract] [Full Text] [Related]

  • 20. [Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].
    Raspall-Chaure M, Del Toro-Riera M, Gratacós M, Cuenca-León E, Ferrer I, Indo Y, Roig-Quilis M, Macaya-Ruiz A.
    Rev Neurol; 2024 Apr 13; 41(4):218-22. PubMed ID: 16075400
    [Abstract] [Full Text] [Related]

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