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Research Progresses in Understanding the Pathophysiology of Moyamoya Disease.
Bersano A, Guey S, Bedini G, Nava S, Hervé D, Vajkoczy P, Tatlisumak T, Sareela M, van der Zwan A, Klijn CJ, Braun KP, Kronenburg A, Acerbi F, Brown MM, Calviere L, Cordonnier C, Henon H, Thines L, Khan N, Czabanka M, Kraemer M, Simister R, Prontera P, Tournier-Lasserve E, Parati E; European Moyamoya Disease Initiative. Bersano A, et al. Cerebrovasc Dis. 2016;41(3-4):105-18. doi: 10.1159/000442298. Epub 2016 Jan 12. Cerebrovasc Dis. 2016. PMID: 26756907 Free article. Review.
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
Hervé D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E. Hervé D, et al. Am J Hum Genet. 2014 Mar 6;94(3):385-94. doi: 10.1016/j.ajhg.2014.01.018. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581742 Free PMC article.
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E. Verdura E, et al. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M. Guey S, et al. J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25. J Med Genet. 2017. PMID: 28343148
Rare variant association testing for multicategory phenotype.
Bocher O, Marenne G, Saint Pierre A, Ludwig TE, Guey S, Tournier-Lasserve E, Perdry H, Génin E. Bocher O, et al. Genet Epidemiol. 2019 Sep;43(6):646-656. doi: 10.1002/gepi.22210. Epub 2019 May 13. Genet Epidemiol. 2019. PMID: 31087445
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM. Pinard A, et al. Genet Med. 2020 Feb;22(2):427-431. doi: 10.1038/s41436-019-0639-2. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474762 Free PMC article.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
Aloui C, Guey S, Pipiras E, Kossorotoff M, Guéden S, Corpechot M, Bessou P, Pedespan JM, Husson M, Hervé D, Riant F, Kraemer M, Steffann J, Quenez O, Tournier-Lasserve E. Aloui C, et al. J Med Genet. 2020 May;57(5):339-346. doi: 10.1136/jmedgenet-2019-106525. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924698
255 results