Detalhe da pesquisa
1.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Genet Med;
21(10): 2199-2207, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30894705
2.
TNFα and IL-1ß but not IL-18 Suppresses Hippocampal Long-Term Potentiation Directly at the Synapse.
Neurochem Res;
44(1): 49-60, 2019 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29619614
3.
Topologically associated domains enriched for lineage-specific genes reveal expression-dependent nuclear topologies during myogenesis.
Proc Natl Acad Sci U S A;
113(12): E1691-700, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26957603
4.
Interstitial telomeric loops and implications of the interaction between TRF2 and lamin A/C.
Differentiation;
102: 19-26, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29979997
5.
An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3.
Am J Med Genet A;
176(12): 2858-2861, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30450763
6.
Synapse-specific IL-1 receptor subunit reconfiguration augments vulnerability to IL-1ß in the aged hippocampus.
Proc Natl Acad Sci U S A;
112(36): E5078-87, 2015 Sep 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26305968
7.
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Hum Mutat;
38(5): 600-608, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28106320
8.
Rapamycin and interleukin-1ß impair brain-derived neurotrophic factor-dependent neuron survival by modulating autophagy.
J Biol Chem;
289(30): 20615-29, 2014 Jul 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24917666
9.
Using a chat-based informed consent tool in large-scale genomic research.
J Am Med Inform Assoc;
31(2): 472-478, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37665746
10.
Brain-derived neurotrophic factor-dependent synaptic plasticity is suppressed by interleukin-1ß via p38 mitogen-activated protein kinase.
J Neurosci;
32(49): 17714-24, 2012 Dec 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23223292
11.
"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
bioRxiv;
2023 Jan 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36747692
12.
Interferon regulatory factor 4 (IRF4) interacts with NFATc2 to modulate interleukin 4 gene expression.
J Exp Med;
195(8): 1003-12, 2002 Apr 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11956291
13.
A-type nuclear lamins act as transcriptional repressors when targeted to promoters.
Exp Cell Res;
315(6): 996-1007, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19272320
14.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet;
28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32483341
15.
Inhibition of LTP-Induced Translation by IL-1ß Reduces the Level of Newly Synthesized Proteins in Hippocampal Dendrites.
ACS Chem Neurosci;
10(3): 1197-1203, 2019 03 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30695637
16.
Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.
Mol Genet Genomic Med;
7(5): e630, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30900393
17.
Author Correction: Varying levels of X chromosome coalescence in female somatic cells alters the balance of X-linked dosage compensation and is implicated in female-dominant systemic lupus erythematosus.
Sci Rep;
9(1): 16145, 2019 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31673014
18.
Varying levels of X chromosome coalescence in female somatic cells alters the balance of X-linked dosage compensation and is implicated in female-dominant systemic lupus erythematosus.
Sci Rep;
9(1): 8011, 2019 05 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31142749
19.
Age- and calorie-independent life span extension from dietary restriction by bacterial deprivation in Caenorhabditis elegans.
BMC Dev Biol;
8: 49, 2008 May 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18457595
20.
Clinical Epigenetic Therapies Disrupt Sex Chromosome Dosage Compensation in Human Female Cells.
Gend Genome;
2(1): 2-7, 2018 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30899898