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Items: 1 to 20 of 154

1.

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 Jul 25;19:1631-8. Print 2013.

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. doi: 10.3969/j.issn.1000-4432.2011.04.010.

PMID:
22187309
3.

Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.

Zou X, Dong F, Zhang S, Tian R, Sui R.

Exp Eye Res. 2013 May;110:44-9. doi: 10.1016/j.exer.2013.02.005. Epub 2013 Feb 21.

PMID:
23438977
4.

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.

Liu T, Zhang B, Jin X, Wang W, Lee J, Li J, Yuan H, Cheng X.

Eye (Lond). 2014 Jan;28(1):26-33. doi: 10.1038/eye.2013.217. Epub 2013 Oct 11.

5.

Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.

Long D, Zeng J, Wu LQ, Tang LS, Wang HL, Wang H.

Ophthalmic Genet. 2012 Mar;33(1):28-33. doi: 10.3109/13816810.2011.599356. Epub 2011 Aug 15.

PMID:
21843040
6.

[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. doi: 10.3760/cma.j.issn.1003-9406.2012.01.004. Chinese.

PMID:
22311483
7.

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;8(4):187-93. doi: 10.1159/000321679. Epub 2010 Dec 3.

PMID:
21135536
8.

Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese.

Mak CM, Kwong YL, Lam CW, Chan SC, Lo CM, Fan ST, Chang CM, Lau YK, U LS, Tam S.

Amyloid. 2007 Dec;14(4):293-7.

PMID:
17968690
9.

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.

PMID:
12771253
10.

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.

Cao W, Ge H, Cui X, Zhang L, Bai J, Fu S, Liu P.

Mol Vis. 2009;15:70-5. Epub 2009 Jan 14.

11.

Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.

Salvi F, Salvi G, Volpe R, Mencucci R, Plasmati R, Michelucci R, Gobbi P, Santangelo M, Ferlini A, Forabosco A, et al.

Ophthalmic Paediatr Genet. 1993 Mar;14(1):9-16.

PMID:
8345958
12.

[Transthyretin Arg-83 mutation in vitreous amyloidosis].

Chen L, Lü L, Zhang P, Li Y, Lin J.

Yan Ke Xue Bao. 2008 Mar;24(1):65-7. Chinese.

PMID:
18709962
13.
14.

Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene.

Roe RH, Fisher Y, Eagle RC Jr, Fine HF, Cunningham ET Jr.

Ophthalmology. 2007 Nov;114(11):e33-7.

PMID:
17980738
15.

Mutation analysis of paired box 6 gene in inherited aniridia in northern China.

Chen P, Zang X, Sun D, Wang Y, Wang Y, Zhao X, Zhang M, Xie L.

Mol Vis. 2013 May 30;19:1169-77. Print 2013.

16.

Hereditary Transthyretin Amyloidosis in Eight Chinese Families.

Meng LC, Lyu H, Zhang W, Liu J, Wang ZX, Yuan Y.

Chin Med J (Engl). 2015 Nov 5;128(21):2902-5. doi: 10.4103/0366-6999.168048.

17.

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.

Magy N, Valleix S, Grateau G, Algros MP, Guillemain R, Kantelip B, Delpech M, Dupond JL.

Amyloid. 2002 Dec;9(4):272-5.

PMID:
12557758
18.

Analysis of mitochondrial haplogroups associated with TTR Val30Ala familial amyloidotic polyneuropathy in Chinese patients.

Liu JY, Jiang XM, Zhang M, Guo YJ.

Int J Neurosci. 2012 Dec;122(12):716-8. doi: 10.3109/00207454.2012.711400. Epub 2012 Aug 15.

PMID:
22784244
19.

Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities.

Yazaki M, Connors LH, Eagle RC Jr, Leff SR, Skinner M, Benson MD.

Amyloid. 2002 Dec;9(4):263-7.

PMID:
12557756
20.

Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.

Lv W, Chen J, Chen W, Hou P, Pang CP, Chen H.

Eye (Lond). 2014 Apr;28(4):452-8. doi: 10.1038/eye.2014.10. Epub 2014 Jan 31.

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