Detalhe da pesquisa
1.
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
Hum Mutat
; 41(2): 412-419, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660686
2.
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Hum Genet
; 138(11-12): 1409-1417, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31748968
3.
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
Am J Hum Genet
; 98(5): 909-918, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132593
4.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Brain
; 141(6): 1703-1718, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29668857
5.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160831
6.
MECP2 impairs neuronal structure by regulating KIBRA.
Neurobiol Dis
; 91: 284-91, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27015692
7.
Protective variant for hippocampal atrophy identified by whole exome sequencing.
Ann Neurol
; 77(3): 547-52, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25559091
8.
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Cells
; 12(10)2023 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408271
9.
Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study.
Breast Cancer Res
; 13(6): R114, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22087758
10.
Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.
Breast Cancer Res Treat
; 127(3): 819-29, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21161372
11.
Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro.
Biol Open
; 10(1)2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32878879
12.
DNA Methylation and Expression Profiles of Whole Blood in Parkinson's Disease.
Front Genet
; 12: 640266, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33981329
13.
Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes.
Sci Data
; 8(1): 276, 2021 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711851
14.
Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier.
Genes (Basel)
; 11(6)2020 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32486318
15.
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Neurol Genet
; 6(4): e468, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754643
16.
Genetic differentiation among wild populations of Tribolium castaneum estimated using microsatellite markers.
J Hered
; 100(6): 732-41, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19734259
17.
Transcriptome response of human skeletal muscle to divergent exercise stimuli.
J Appl Physiol (1985)
; 124(6): 1529-1540, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543133
18.
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
Front Aging Neurosci
; 10: 155, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29896098
19.
A Guide to Single-Cell Transcriptomics in Adult Rodent Brain: The Medium Spiny Neuron Transcriptome Revisited.
Front Cell Neurosci
; 12: 159, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970990
20.
The PKC-ß selective inhibitor, Enzastaurin, impairs memory in middle-aged rats.
PLoS One
; 13(6): e0198256, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29870545