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Journal Abstract Search

295 related items for PubMed ID: 29619836

  • 1. Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
    Liu Z, Liu J, Liu G, Cao W, Liu S, Chen Y, Zuo Y, Chen W, Chen J, Zhang Y, Huang S, Qiu G, Giampietro PF, Zhang F, Wu Z, Wu N.
    J Int Med Res; 2018 Jun; 46(6):2445-2457. PubMed ID: 29619836
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
    Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA.
    Neurogenetics; 2021 Oct 30; 22(4):333-341. PubMed ID: 34405299
    [Abstract] [Full Text] [Related]

  • 5. Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
    Cho JH, Hwang S, Kwak YH, Yum MS, Seo GH, Koh JY, Ju YS, Yoon JH, Kang M, Do HS, Kim S, Kim GH, Bae H, Lee BH.
    Mol Genet Genomic Med; 2024 Apr 30; 12(4):e2430. PubMed ID: 38581121
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  • 7. 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 30; 12 Suppl 1():I20-32. PubMed ID: 12102460
    [Abstract] [Full Text] [Related]

  • 8. 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 30; 18(4):308-18. PubMed ID: 11668614
    [Abstract] [Full Text] [Related]

  • 9. Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
    Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.
    Hum Genet; 2000 Jan 30; 106(1):116-24. PubMed ID: 10982191
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  • 11. 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 30; 18(6):462-71. PubMed ID: 11748840
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 22(2):92-99. PubMed ID: 28177573
    [Abstract] [Full Text] [Related]

  • 13. [Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis].
    Li B, Zhang Z, Wu X, Chen W, Chen J, Lyu Q, Liu G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct 10; 34(5):646-649. PubMed ID: 28981924
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [A novel mutation of NTRK1 gene in a family with congenital insensitivity to pain with anhidrosis].
    Tang Y, Zheng D, Li Q, Wang Z, Lin Y, Lan F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 13; 31(5):574-7. PubMed ID: 25297584
    [Abstract] [Full Text] [Related]

  • 16. 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 13; 18(2):159-66. PubMed ID: 18077166
    [Abstract] [Full Text] [Related]

  • 17. Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.
    Lv F, Xu XJ, Song YW, Li LJ, Wang O, Jiang Y, Xia WB, Xing XP, Gao P, Li M.
    Clin Chim Acta; 2017 May 13; 468():39-45. PubMed ID: 28192073
    [Abstract] [Full Text] [Related]

  • 18. 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 May 13; 14():1744806918781140. PubMed ID: 29770739
    [Abstract] [Full Text] [Related]

  • 19. Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.
    Liu S, Wu N, Liu J, Ming X, Chen J, Pavelec D, Su X, Qiu G, Tian Y, Giampietro P, Wu Z.
    J Child Neurol; 2015 Sep 13; 30(10):1357-61. PubMed ID: 25316729
    [Abstract] [Full Text] [Related]

  • 20. 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]

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