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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1995 2
1999 2
2000 3
2002 2
2004 1
2005 1
2006 1
2007 1
2009 1
2010 1
2011 1
2013 1
2014 2
2015 3
2016 2
2017 2
2019 2
2020 2
2021 2
2023 2
2024 1

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33 results

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Page 1
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.
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Guey S, Hervé D, Kossorotoff M, Ha G, Aloui C, Bergametti F, Arnould M, Guenou H, Hadjadj J, Dubois Teklali F, Riant F, Balligand JL, Uzan G, Villoutreix BO, Tournier-Lasserve E. Guey S, et al. Among authors: bergametti f. Hum Genomics. 2023 Mar 20;17(1):24. doi: 10.1186/s40246-023-00471-x. Hum Genomics. 2023. PMID: 36941667 Free PMC article.
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Coste T, Hervé D, Neau JP, Jouvent E, Ba F, Bergametti F, Lamy M, Cogez J, Derache N, Schneckenburger R, Grelet M, Gollion C, Lanotte L, Lauer V, Layet V, Urbanczyk C, Didic M, Raynouard I, Delaval L, Dassa J, Florea A, Badiu C, Nguyen K, Tournier-Lasserve E. Coste T, et al. Among authors: bergametti f. Brain. 2021 Oct 22;144(9):2616-2624. doi: 10.1093/brain/awab271. Brain. 2021. PMID: 34270682
Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
Cousyn L, Demeret S, Philippi A, Bergametti F, Villa C, Morbini P, Riant F, Soulier J, Tournier-Lasserve E, Denier C. Cousyn L, et al. Among authors: bergametti f. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):98-100. doi: 10.1136/jnnp-2023-331260. J Neurol Neurosurg Psychiatry. 2023. PMID: 37451692 No abstract available.
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Aloui C, Hervé D, Marenne G, Savenier F, Le Guennec K, Bergametti F, Verdura E, Ludwig TE, Lebenberg J, Jabeur W, Morel H, Coste T, Demarquay G, Bachoumas P, Cogez J, Mathey G, Bernard E; FREX consortium; Chabriat H, Génin E, Tournier-Lasserve E. Aloui C, et al. Among authors: bergametti f. Ann Neurol. 2021 Dec;90(6):962-975. doi: 10.1002/ana.26242. Epub 2021 Oct 20. Ann Neurol. 2021. PMID: 34606115
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.
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. Among authors: bergametti f. 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.
33 results