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Items: 26

1.

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.

Grangeon L, Guey S, Schwitalla JC, Bergametti F, Arnould M, Corpechot M, Hadjadj J, Riant F, Aloui C, Drunat S, Vidaud D, Tournier-Lasserve E, Kraemer M.

Stroke. 2019 Apr;50(4):789-796. doi: 10.1161/STROKEAHA.118.023972.

PMID:
30908154
2.

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

Guey S, Kraemer M, Hervé D, Ludwig T, Kossorotoff M, Bergametti F, Schwitalla JC, Choi S, Broseus L, Callebaut I, Genin E, Tournier-Lasserve E; FREX consortium.

Eur J Hum Genet. 2017 Aug;25(8):995-1003. doi: 10.1038/ejhg.2017.92. Epub 2017 Jun 21.

3.

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.

J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25.

PMID:
28343148
4.

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.

Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.

PMID:
27666438
5.

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.

Eur J Hum Genet. 2016 Apr;24(4):581-6. doi: 10.1038/ejhg.2015.143. Epub 2015 Jul 15.

6.

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.

Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.

PMID:
26063658
7.

Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.

Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C.

Rev Neurol (Paris). 2015 May;171(5):445-9. doi: 10.1016/j.neurol.2015.01.566. Epub 2015 Apr 2.

PMID:
25843205
8.

Cerebral cavernous malformations arise independent of the heart of glass receptor.

Zheng X, Riant F, Bergametti F, Myers CD, Tang AT, Kleaveland B, Pan W, Yang J, Tournier-Lasserve E, Kahn ML.

Stroke. 2014 May;45(5):1505-1509. doi: 10.1161/STROKEAHA.114.004809. Epub 2014 Mar 18.

9.

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.

Am J Hum Genet. 2014 Mar 6;94(3):385-94. doi: 10.1016/j.ajhg.2014.01.018. Epub 2014 Feb 27. Erratum in: Am J Hum Genet. 2014 Apr 3;94(4):642.

10.

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.

Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3.

11.

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.

Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19.

12.

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.

Riant F, Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E.

FEBS J. 2010 Mar;277(5):1070-5. doi: 10.1111/j.1742-4658.2009.07535.x. Epub 2010 Jan 22. Review.

13.

Multiple dural lesions mimicking meningiomas in patients with CCM3/PDCD10 mutations.

Labauge P, Fontaine B, Neau JP, Bergametti F, Riant F, Blecon A, Marchelli F, Arnoult M, Lannuzel A, Clanet M, Olschwang S, Denier C, Tournier-Lasserve E.

Neurology. 2009 Jun 9;72(23):2044-6. doi: 10.1212/WNL.0b013e3181a92b13. No abstract available.

PMID:
19506228
14.

Genetics of cavernous angiomas.

Labauge P, Denier C, Bergametti F, Tournier-Lasserve E.

Lancet Neurol. 2007 Mar;6(3):237-44. Review.

PMID:
17303530
15.

Genotype-phenotype correlations in cerebral cavernous malformations patients.

Denier C, Labauge P, Bergametti F, Marchelli F, Riant F, Arnoult M, Maciazek J, Vicaut E, Brunereau L, Tournier-Lasserve E; Société Française de Neurochirurgie.

Ann Neurol. 2006 Nov;60(5):550-6.

PMID:
17041941
16.

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.

Am J Hum Genet. 2005 Jan;76(1):42-51. Epub 2004 Nov 12.

17.
18.

Turnover of hepatitis B virus X protein is regulated by damaged DNA-binding complex.

Bergametti F, Sitterlin D, Transy C.

J Virol. 2002 Jul;76(13):6495-501.

19.

Correct binding of viral X protein to UVDDB-p127 cellular protein is critical for efficient infection by hepatitis B viruses.

Sitterlin D, Bergametti F, Tiollais P, Tennant BC, Transy C.

Oncogene. 2000 Sep 7;19(38):4427-31.

20.

UVDDB p127-binding modulates activities and intracellular distribution of hepatitis B virus X protein.

Sitterlin D, Bergametti F, Transy C.

Oncogene. 2000 Sep 7;19(38):4417-26.

21.

A genomic approach of the hepatitis C virus generates a protein interaction map.

Flajolet M, Rotondo G, Daviet L, Bergametti F, Inchauspé G, Tiollais P, Transy C, Legrain P.

Gene. 2000 Jan 25;242(1-2):369-79.

PMID:
10721731
22.

Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene.

Kottler ML, Bergametti F, Carrë MC, Morice S, Decoret E, Lagarde JP, Starzec A, Counis R.

Eur J Endocrinol. 1999 Jun;140(6):561-9.

PMID:
10366411
23.

The proapoptotic effect of hepatitis B virus HBx protein correlates with its transactivation activity in stably transfected cell lines.

Bergametti F, Prigent S, Luber B, Benoit A, Tiollais P, Sarasin A, Transy C.

Oncogene. 1999 May 6;18(18):2860-71.

24.

Subregional mapping of the human gonadotropin-releasing hormone receptor (GnRH-R) gene to 4q between the markers D4S392 and D4S409.

Kottler ML, Lorenzo F, Bergametti F, Commerçon P, Souchier C, Counis R.

Hum Genet. 1995 Oct;96(4):477-80.

PMID:
7557974
26.

[Recent data on the gonadoliberin receptor and the neuropeptide control mechanisms for gene expression of gonadotropin hormones].

Counis R, Bouamoud N, Lerrant Y, Starzec A, Moumni M, Kottler ML, Garrel G, Bérault A, Bergametti F.

Contracept Fertil Sex. 1993 Oct;21(10):773-9. Review. French.

PMID:
8269027

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