Literature DB >> 25043520

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Katherine R Smith1, Richard J Leventer, Mark T Mackay, Kate Pope, Greta Gillies, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25043520     DOI： 10.1111/ijs.12306

Source DB:  PubMed          Journal:  Int J Stroke        ISSN： 1747-4930            Impact factor:   5.266


× No keyword cloud information.
  5 in total

1.  Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Authors:  Stéphanie Guey; Markus Kraemer; Dominique Hervé; Thomas Ludwig; Manoëlle Kossorotoff; Françoise Bergametti; Jan Claudius Schwitalla; Simone Choi; Lucile Broseus; Isabelle Callebaut; Emmanuelle Genin; Elisabeth Tournier-Lasserve
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

2.  RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Authors:  Sirui Zhou; Amirthagowri Ambalavanan; Daniel Rochefort; Pingxing Xie; Cynthia V Bourassa; Pascale Hince; Alexandre Dionne-Laporte; Dan Spiegelman; Ziv Gan-Or; Cathy Mirarchi; Vessela Zaharieva; Nicolas Dupré; Hatasu Kobayashi; Toshiaki Hitomi; Kouji Harada; Akio Koizumi; Lan Xiong; Patrick A Dion; Guy A Rouleau
Journal:  Am J Hum Genet       Date:  2016-10-13       Impact factor: 11.025

Review 3.  Childhood stroke.

Authors:  Peter B Sporns; Heather J Fullerton; Sarah Lee; Helen Kim; Warren D Lo; Mark T Mackay; Moritz Wildgruber
Journal:  Nat Rev Dis Primers       Date:  2022-02-24       Impact factor: 52.329

4.  Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Authors:  Andrey N Gagunashvili; Louise Ocaka; Daniel Kelberman; Pinki Munot; Chiara Bacchelli; Philip L Beales; Vijeya Ganesan
Journal:  Hum Genome Var       Date:  2019-08-08

Review 5.  The Genetic Basis of Moyamoya Disease.

Authors:  R Mertens; M Graupera; H Gerhardt; A Bersano; E Tournier-Lasserve; M A Mensah; S Mundlos; P Vajkoczy
Journal:  Transl Stroke Res       Date:  2021-09-16       Impact factor: 6.829
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.