| 1 | HSAN4, NTRK1
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| Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.
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| Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC.
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| Clin Genet 75(3):230-6.
2009
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| 2 | CCT5, ELP1, HSAN1, HSAN2A, HSAN3, HSAN4, HSAN5, NGF, NTRK1, SNSP, SPTLC1, WNK1
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| Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
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| Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.
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| Brain 132(Pt 10):2699-711. Epub 2009 Aug 3.PMID: 19651702 2009
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| 3 | HSAN4, NTRK1
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| Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.
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| Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M.
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| Neurogenetics 9(2):119-25. Epub 2008 Mar 6.
2008
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| 4 | HSAN4, NTRK1
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| Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.
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| 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.
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| Neuromuscul Disord 18(2):159-66. Epub 2008 Feb 20.PMID: 18077166 2008
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| 5 | HSAN4, NTRK1
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| A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA).
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| Melamed I, Levy J, Parvari R, Gelfand EW.
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| J Clin Immunol 24(4):441-8. 2004
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| 6 | HSAN4, NTRK1
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| 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.
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| Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.
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| Hum Mutat 18(4):308-18. 2001
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| 7 | HSAN4, NTRK1
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| Mutation and polymorphism analysis of theTRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
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| Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.
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| Hum Genet 106:116-124 2000
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| 8 | HSAN4, NTRK1
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| 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.
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| Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.
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| Am J Med Genet 92(5):353-60. 2000
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| 9 | HSAN4, NTRK1
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| Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis
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| Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y.
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| Hum Genet 107(3):205-9. 2000
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| 10 | HSAN4, NTRK1
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| A Novel NTRK1 Mutation Associated with Congenital Insensitivity to Pain with Anhidrosis.
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| Greco A, et al.
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| Am J Hum Genet 64(4):1207-1210. No abstract available 1999
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| 11 | HSAN4, NTRK1
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| Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding A high-affinity receptor for nerve growth factor.
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| Mardy S, et al.
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| Am J Hum Genet 64(6):1570-9. 1999
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| 12 | NTRK1, HSAN4
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| A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
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| Yotsumoto S, et al.
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| J Invest Dermatol 112(5):810-4. 1999
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| 13 | HSAN4, NTRK1
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| Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
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| Indo Y, et al.
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| Nat Genet 13 : 485-488. 1996
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