Detalhe da pesquisa
1.
Novel filamin C (FLNC) variant causes a severe form of familial mixed hypertrophic-restrictive cardiomyopathy.
Am J Med Genet A
; 191(6): 1508-1517, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864778
2.
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Am J Hum Genet
; 102(6): 1078-1089, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754767
3.
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
BMC Cardiovasc Disord
; 21(1): 126, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673806
4.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res
; 25(3): 305-15, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25637381
5.
LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
Am J Kidney Dis
; 72(2): 296-301, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246420
6.
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
Hum Mutat
; 36(7): 728-39, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25963598
7.
First, do no harm: direct-to-consumer genetic testing.
Genet Med
; 21(2): 510-511, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29904164
8.
Elevated proteasome capacity extends replicative lifespan in Saccharomyces cerevisiae.
PLoS Genet
; 7(9): e1002253, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21931558
9.
End-of-life cell cycle arrest contributes to stochasticity of yeast replicative aging.
FEMS Yeast Res
; 13(3): 267-76, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23336757
10.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Transl Vis Sci Technol
; 11(1): 6, 2022 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34985506
11.
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PLoS One
; 16(2): e0245681, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534821
12.
Analysis of nucleic acid binding by a recombinant translin-trax complex.
Biochem Biophys Res Commun
; 396(3): 709-13, 2010 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20450889
13.
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
Eur J Hum Genet
; 28(11): 1497-1508, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576952
14.
Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.
Neuromuscul Disord
; 28(7): 606-609, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779757
15.
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Mol Genet Genomic Med
; 6(6): 1148-1156, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30393977
16.
Transcription errors induce proteotoxic stress and shorten cellular lifespan.
Nat Commun
; 6: 8065, 2015 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26304740
17.
A Comprehensive Analysis of Replicative Lifespan in 4,698 Single-Gene Deletion Strains Uncovers Conserved Mechanisms of Aging.
Cell Metab
; 22(5): 895-906, 2015 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26456335
18.
Stress profiling of longevity mutants identifies Afg3 as a mitochondrial determinant of cytoplasmic mRNA translation and aging.
Aging Cell
; 12(1): 156-66, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23167605
19.
Dietary restriction and mitochondrial function link replicative and chronological aging in Saccharomyces cerevisiae.
Exp Gerontol
; 48(10): 1006-13, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23235143
20.
Molecular mechanisms underlying genotype-dependent responses to dietary restriction.
Aging Cell
; 12(6): 1050-61, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23837470