Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Congenital Insensitivity To Pain With Anhidrosis[original query] |
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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. Human mutation 2001 1 17 (1): 72. Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, Schmitz |
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a journal of neurology 2009 Oct 132 (Pt 10): 2699-711. Rotthier Annelies, Baets Jonathan, De Vriendt Els, Jacobs An, Auer-Grumbach Michaela, Lévy Nicolas, Bonello-Palot Nathalie, Kilic Sara Sebnem, Weis Joachim, Nascimento Andrés, Swinkels Marielle, Kruyt Moyo C, Jordanova Albena, De Jonghe Peter, Timmerman Vince |
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. Pediatric neurology 2016 Apr . Wang Qing-Li, Guo Shanna, Duan Guangyou, Ying Ying, Huang Penghao, Liu Jing Yu, Zhang Xianw |
Associations between single-nucleotide polymorphisms in the NTRK1 gene and basal pain sensitivity in young Han Chinese women. Neuroscience letters 2017 Oct . Li Ningbo, Duan Guangyou, Sun Jiaoli, Guo Shanna, Wang Qingli, Zheng Hua, Wang Cong, Zhu Changmao, Liu Yi, Zhang Xianw |
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. Journal of pain research 2019 2 12 453-465. Li Ningbo, Guo Shanna, Wang Qingli, Duan Guangyou, Sun Jiaoli, Liu Yi, Zhang Jin, Wang Cong, Zhu Changmao, Liu Jingyu, Zhang Xianw |
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. Clinical neurology and neurosurgery 2019 12 189 105636. Masri Amira, Shboul Mohammad, Khasawneh Aisha, Jadallah Rama, ALmustafa Asma, Escande-Beillard Nathalie, Hamamy Hanan, Bakri Faris, Reversade Bru |
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis. European journal of neurology 2020 3 27 (8): 1697-1705. 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 |
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