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Journal Abstract Search

151 related items for PubMed ID: 22311483

  • 1. [Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis].
    Xie Y, Zhao Y, Zhou JJ, Wang X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Feb; 29(1):13-5. PubMed ID: 22311483
    [Abstract] [Full Text] [Related]

  • 2. A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese.
    Shi Y, Li J, Hu J, Hu J, Sun L, Li H, Shi R, Yang L, Sun Y, Li C.
    Eye Sci; 2011 Dec; 26(4):230-8. PubMed ID: 22187309
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  • 3. Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis.
    Nie XM, Cai SJ, Xie B, Chen XW, Jiang M.
    Genet Mol Res; 2016 Mar 31; 15(1):. PubMed ID: 27051017
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  • 4. Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.
    Zhang AM, Wang H, Sun P, Hu QX, He Y, Yao YG.
    Mol Vis; 2013 Mar 31; 19():1631-8. PubMed ID: 23901247
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  • 5. Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
    Salvi F, Pastorelli F, Plasmati R, Ferlini A, Grazi GL, Jovine E, Mascalchi M, Tassinari CA.
    Neurol Sci; 2005 Jun 31; 26(2):140-2. PubMed ID: 15995833
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  • 6. Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation.
    Naderi AS, Farsian FN, Igarashi P.
    Am J Med Sci; 2007 Sep 31; 334(3):219-21. PubMed ID: 17873539
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  • 7. Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR amyloid.
    Eriksson M, Büttner J, Todorov T, Yumlu S, Schönland S, Hegenbart U, Kristen AV, Dengler T, Lohse P, Helmke B, Schmidt H, Röcken C.
    Am J Surg Pathol; 2009 Jan 31; 33(1):58-65. PubMed ID: 18830126
    [Abstract] [Full Text] [Related]

  • 8. Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.
    Zhang Y, Deng YL, Ma JF, Zheng L, Hong Z, Wang ZQ, Sheng CY, Xiao Q, Cao L, Chen SD.
    Neurodegener Dis; 2011 Jan 31; 8(4):187-93. PubMed ID: 21135536
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  • 9. A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.
    Tarquini R, Perfetto F, Bergesio F, Miliani A, Del Pace S, Frusconi S, Minuti B, Pelo E, Torricelli F.
    Amyloid; 2007 Dec 31; 14(4):289-92. PubMed ID: 17968689
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  • 11. A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only.
    Ran LX, Zheng ZY, Xie B, Nie XM, Chen XW, Su G, Cai SJ.
    Exp Eye Res; 2018 Apr 31; 169():13-19. PubMed ID: 29360446
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  • 13. Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene.
    Augustin S, Llige D, Andreu A, González A, Genescà J.
    Eur J Clin Invest; 2007 Aug 31; 37(8):673-8. PubMed ID: 17635579
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  • 14. Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene.
    Roe RH, Fisher Y, Eagle RC, Fine HF, Cunningham ET.
    Ophthalmology; 2007 Nov 31; 114(11):e33-7. PubMed ID: 17980738
    [Abstract] [Full Text] [Related]

  • 15. Familial amyloidotic polyneuropathy: report of patients heterozygous for the transthyretin Gly42 gene.
    Murakami T, Yi S, Yamamoto K, Maruyama S, Araki S.
    Ann Neurol; 1992 Mar 31; 31(3):340-2. PubMed ID: 1637142
    [Abstract] [Full Text] [Related]

  • 16. Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.
    Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR.
    Neurology; 2003 May 27; 60(10):1625-30. PubMed ID: 12771253
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  • 20. Screening and biochemical characterization of transthyretin variants in the Portuguese population.
    Alves IL, Altland K, Almeida MR, Winter P, Saraiva MJ.
    Hum Mutat; 1997 May 27; 9(3):226-33. PubMed ID: 9090525
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