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Page 1
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E. Miskinyte S, et al. Among authors: bergametti f. Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596366 Free PMC article.
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E; Société Française de Neurochirurgie. Bergametti F, et al. Am J Hum Genet. 2005 Jan;76(1):42-51. doi: 10.1086/426952. Epub 2004 Nov 12. Am J Hum Genet. 2005. PMID: 15543491 Free PMC article.
Genetics of cavernous angiomas.
Labauge P, Denier C, Bergametti F, Tournier-Lasserve E. Labauge P, et al. Among authors: bergametti f. Lancet Neurol. 2007 Mar;6(3):237-44. doi: 10.1016/S1474-4422(07)70053-4. Lancet Neurol. 2007. PMID: 17303530 Review.
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
Riant F, Bergametti F, Fournier HD, Chapon F, Michalak-Provost S, Cecillon M, Lejeune P, Hosseini H, Choe C, Orth M, Bernreuther C, Boulday G, Denier C, Labauge P, Tournier-Lasserve E. Riant F, et al. Among authors: bergametti f. Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3. Mol Syndromol. 2013. PMID: 23801932 Free PMC article.
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. Among authors: bergametti f. 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.
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. Verdura E, et al. Among authors: bergametti f. Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10. Brain. 2015. PMID: 26063658
Can whole-exome sequencing data be used for linkage analysis?
Gazal S, Gosset S, Verdura E, Bergametti F, Guey S, Babron MC, Tournier-Lasserve E. Gazal S, et al. Among authors: bergametti f. Eur J Hum Genet. 2016 Apr;24(4):581-6. doi: 10.1038/ejhg.2015.143. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173971 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. Among authors: bergametti f. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
34 results