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Items: 1 to 20 of 108

1.

Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion.

Miyawaki S, Imai H, Shimizu M, Yagi S, Ono H, Mukasa A, Nakatomi H, Shimizu T, Saito N.

Stroke. 2013 Oct;44(10):2894-7. doi: 10.1161/STROKEAHA.113.002477.

2.

Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis/occlusion.

Miyawaki S, Imai H, Takayanagi S, Mukasa A, Nakatomi H, Saito N.

Stroke. 2012 Dec;43(12):3371-4. doi: 10.1161/STROKEAHA.112.663864. Erratum in: Stroke. 2012 Dec;43(12):e182.

3.

Genetic Analysis of RNF213 c.14576G>A Variant in Nonatherosclerotic Quasi-Moyamoya Disease.

Miyawaki S, Imai H, Shimizu M, Yagi S, Ono H, Nakatomi H, Shimizu T, Saito N.

J Stroke Cerebrovasc Dis. 2015 May;24(5):1075-9. doi: 10.1016/j.jstrokecerebrovasdis.2015.01.005.

PMID:
25817623
4.

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N.

Neurology. 2012 Mar 13;78(11):803-10. doi: 10.1212/WNL.0b013e318249f71f.

PMID:
22377813
5.

Role of Ring Finger Protein 213 in Moyamoya Disease.

Ma YG, Zhang Q, Yu LB, Zhao JZ.

Chin Med J (Engl). 2016 20th Oct;129(20):2497-2501. doi: 10.4103/0366-6999.191824. Review.

6.

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.

Kim EH, Yum MS, Ra YS, Park JB, Ahn JS, Kim GH, Goo HW, Ko TS, Yoo HW.

J Neurosurg. 2016 May;124(5):1221-7. doi: 10.3171/2015.4.JNS142900.

PMID:
26430847
7.

Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1.

Phi JH, Choi JW, Seong MW, Kim T, Moon YJ, Lee J, Koh EJ, Ryu SK, Kang TH, Bang JS, Oh CW, Park SS, Lee JY, Wang KC, Kim SK.

J Neurosurg Pediatr. 2016 Jun;17(6):717-22. doi: 10.3171/2015.10.PEDS15537.

PMID:
26849809
8.

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.

Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, Taguri M, Morita S, Matsumoto N.

J Hum Genet. 2012 Dec;57(12):804-6. doi: 10.1038/jhg.2012.105.

PMID:
22931863
9.

Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.

Wu Z, Jiang H, Zhang L, Xu X, Zhang X, Kang Z, Song D, Zhang J, Guan M, Gu Y.

PLoS One. 2012;7(10):e48179. doi: 10.1371/journal.pone.0048179.

10.

Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?

Bang OY, Ryoo S, Kim SJ, Yoon CH, Cha J, Yeon JY, Kim KH, Kim GM, Chung CS, Lee KH, Shin HJ, Ki CS, Jeon P, Kim JS, Hong SC.

PLoS One. 2015 Jun 30;10(6):e0130663. doi: 10.1371/journal.pone.0130663.

11.

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics., Grotta JC, Nickerson DA, Pannu H, Milewicz DM.

Stroke. 2014 Nov;45(11):3200-7. doi: 10.1161/STROKEAHA.114.006244.

12.

Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects.

Wang X, Zhang Z, Liu W, Xiong Y, Sun W, Huang X, Jiang Y, Ni G, Sun W, Zhou L, Wu L, Zhu W, Li H, Liu X, Xu G.

Gene. 2013 Sep 10;526(2):437-42. doi: 10.1016/j.gene.2013.05.083.

PMID:
23769926
13.

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

Moteki Y, Onda H, Kasuya H, Yoneyama T, Okada Y, Hirota K, Mukawa M, Nariai T, Mitani S, Akagawa H.

J Am Heart Assoc. 2015 May 11;4(5). pii: e001862. doi: 10.1161/JAHA.115.001862.

14.

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S.

J Hum Genet. 2011 Jan;56(1):34-40. doi: 10.1038/jhg.2010.132.

PMID:
21048783
15.

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.

Shoemaker LD, Clark MJ, Patwardhan A, Chandratillake G, Garcia S, Chen R, Morgan AA, Leng N, Kirk S, Chen R, Cook DJ, Snyder M, Steinberg GK.

G3 (Bethesda). 2015 Nov 3;6(1):41-9. doi: 10.1534/g3.115.020321.

16.

A new horizon of moyamoya disease and associated health risks explored through RNF213.

Koizumi A, Kobayashi H, Hitomi T, Harada KH, Habu T, Youssefian S.

Environ Health Prev Med. 2016 Mar;21(2):55-70. doi: 10.1007/s12199-015-0498-7. Review.

17.

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.

Jang MA, Shin S, Yoon JH, Ki CS.

BMC Med Genet. 2015 Nov 20;16:109. doi: 10.1186/s12881-015-0252-4.

18.

RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis.

Ma J, Liu Y, Ma L, Huang S, Li H, You C.

Neurol India. 2013 Jan-Feb;61(1):35-9. doi: 10.4103/0028-3886.107927. Review.

19.

Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.

Inoue T, Murakami N, Sakadume S, Kido Y, Kikuchi A, Ichinoi N, Suzuki K, Kure S, Sakuta R.

Pediatr Int. 2015 Aug;57(4):798-801. doi: 10.1111/ped.12689.

PMID:
26315205
20.

Association between the rs112735431 polymorphism of the RNF213 gene and moyamoya disease: A case-control study and meta-analysis.

Huang Y, Cheng D, Zhang J, Zhao W.

J Clin Neurosci. 2016 Oct;32:14-8. doi: 10.1016/j.jocn.2015.11.035.

PMID:
27515544
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