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Journal Abstract Search

273 related items for PubMed ID: 21708027

  • 1. 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]

  • 2. 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 Jun 27; 17(1):72. PubMed ID: 11139246
    [Abstract] [Full Text] [Related]

  • 3. 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 Jun 27; 14():1744806918781140. PubMed ID: 29770739
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  • 4. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
    Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E.
    Neuromuscul Disord; 2006 Jan 27; 16(1):19-25. PubMed ID: 16373086
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  • 6. 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 27; 45(2):549-555. PubMed ID: 28345382
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  • 7. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
    Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM.
    Am J Med Genet A; 2017 Apr 27; 173(4):1009-1016. PubMed ID: 28328124
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  • 8. 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
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  • 9. 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
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  • 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 30; 12 Suppl 1():I20-32. PubMed ID: 12102460
    [Abstract] [Full Text] [Related]

  • 12. [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 30; 31(5):574-7. PubMed ID: 25297584
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 30; 468():39-45. PubMed ID: 28192073
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  • 15. 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 30; 46(6):2445-2457. PubMed ID: 29619836
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  • 18. 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 30; 18(2):159-66. PubMed ID: 18077166
    [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 30; 30(10):1357-61. PubMed ID: 25316729
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  • 20. 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 Sep 30; 15():1345081. PubMed ID: 38798698
    [Abstract] [Full Text] [Related]

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