32 results on '"Bergametti, Françoise"'
Search Results
2. An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease
3. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
4. Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
5. Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy
6. Additional file 1 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
7. Additional file 5 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
8. Additional file 2 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
9. Additional file 3 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
10. Additional file 4 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
11. Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia
12. Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya
13. Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease
14. Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
15. Cerebral Cavernous Malformations Arise Independent of the Heart of Glass Receptor
16. Genetics of cavernous angiomas
17. Interaction of hepatitis B virus X protein with damaged DNA-binding protein p127: Structural analysis and identification of antagonists
18. Correct binding of viral X protein to UVDDB-p127 cellular protein is critical for efficient infection by hepatitis B viruses
19. UVDDB p127-binding modulates activities and intracellular distribution of Hepatitis B virus X protein
20. The proapoptotic effect of hepatitis B virus HBx protein correlates with its transactivation activity in stably transfected cell lines
21. Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations
22. Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
23. De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
24. Disruption of a miR‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy
25. Biallelic variants in NOS3and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
26. Can whole-exome sequencing data be used for linkage analysis?
27. HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease
28. Genotype–phenotype correlations in cerebral cavernous malformations patients
29. Turnover of Hepatitis B Virus X Protein Is Regulated by Damaged DNA-Binding Complex
30. Can whole-exome sequencing data be used for linkage analysis?
31. A genomic approach of the hepatitis C virus generates a protein interaction map
32. Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.