Detalhe da pesquisa
1.
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Am J Hum Genet
; 106(5): 632-645, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330418
2.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genet Med
; 24(4): 851-861, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930662
3.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Genet Med
; 23(3): 534-542, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110267
4.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
5.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
6.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genet Med
; 20(12): 1635-1643, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790872
7.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392081
8.
Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca(2+) -permeable TRPC6 channels.
Hippocampus
; 23(1): 40-52, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22815087
9.
Contributions of rare and common variation to early-onset and atypical dementia risk.
medRxiv
; 2023 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798301
10.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Cold Spring Harb Mol Case Stud
; 9(3)2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308299
11.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
J Pers Med
; 13(7)2023 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511639
12.
Intracellular Ca2+ stores and Ca2+ influx are both required for BDNF to rapidly increase quantal vesicular transmitter release.
Neural Plast
; 2012: 203536, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22811938
13.
Activity-dependent release of endogenous BDNF from mossy fibers evokes a TRPC3 current and Ca2+ elevations in CA3 pyramidal neurons.
J Neurophysiol
; 103(5): 2846-56, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20220070
14.
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836585
15.
TRPC3 channels are necessary for brain-derived neurotrophic factor to activate a nonselective cationic current and to induce dendritic spine formation.
J Neurosci
; 27(19): 5179-89, 2007 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-17494704
16.
Transient receptor potential channels as novel effectors of brain-derived neurotrophic factor signaling: potential implications for Rett syndrome.
Pharmacol Ther
; 113(2): 394-409, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17118456
17.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome Med
; 9(1): 43, 2017 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28554332
18.
Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.
Neurology
; 93(11): 510-514, 2019 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501304
19.
The dynamics of excitatory synapse formation on dendritic spines.
Cellscience
; 5(4): 19-25, 2009 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-20072712
20.
BDNF induces calcium elevations associated with IBDNF, a nonselective cationic current mediated by TRPC channels.
J Neurophysiol
; 98(4): 2476-82, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17699689