Detalhe da pesquisa
1.
Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.
Acta Neurochir (Wien)
; 165(12): 4241-4251, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37843608
2.
TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism.
Alzheimers Dement
; 19(7): 2805-2815, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576960
3.
ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels.
Int J Mol Sci
; 24(7)2023 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047093
4.
Wine markers in archeological potteries: detection by GC-MS at ultratrace levels.
Anal Bioanal Chem
; 411(25): 6711-6722, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31372702
5.
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
BMC Med Genet
; 18(1): 20, 2017 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28231770
6.
Behavioral Evolution of Progressive Semantic Aphasia in Comparison with Nonfluent Aphasia.
Dement Geriatr Cogn Disord
; 41(1-2): 1-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26426392
7.
Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion.
Alzheimers Dement
; 10(5 Suppl): S284-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24439166
8.
Characterization of Limnospira platensis PCC 9108 R-M and CRISPR-Cas systems.
Microbiol Res
; 279: 127572, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38101163
9.
A central regulatory system largely controls transcriptional activation and repression responses to phosphate starvation in Arabidopsis.
PLoS Genet
; 6(9): e1001102, 2010 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838596
10.
Improved protein-binding microarrays for the identification of DNA-binding specificities of transcription factors.
Plant J
; 66(4): 700-11, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21284757
11.
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
J Neurol Neurosurg Psychiatry
; 88(11): 996-997, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365590
12.
A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2.
J Clin Med
; 11(11)2022 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35683441
13.
Taxonomic and functional metagenomic profiling of the microbial community in the anoxic sediment of a sub-saline shallow lake (Laguna de Carrizo, Central Spain).
Microb Ecol
; 62(4): 824-37, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21735153
14.
Detection of Genetic Rearrangements in the Regulators of Complement Activation RCA Cluster by High-Throughput Sequencing and MLPA.
Methods Mol Biol
; 2227: 159-178, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847941
15.
Genome-wide identification of small RNA targets based on target enrichment and microarray hybridizations.
Plant J
; 59(5): 840-50, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19453461
16.
α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease.
Alzheimers Res Ther
; 12(1): 139, 2020 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129344
17.
SORL1 Variants in Familial Alzheimer's Disease.
J Alzheimers Dis
; 61(4): 1275-1281, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29376855
18.
Association between CFH, CFB, ARMS2, SERPINF1, VEGFR1 and VEGF polymorphisms and anatomical and functional response to ranibizumab treatment in neovascular age-related macular degeneration.
Acta Ophthalmol
; 96(2): e201-e212, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28926193
19.
Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.
J Alzheimers Dis
; 52(1): 25-31, 2016 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26967212
20.
Sequencing of diverse mandarin, pummelo and orange genomes reveals complex history of admixture during citrus domestication.
Nat Biotechnol
; 32(7): 656-62, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24908277