Detalhe da pesquisa
1.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126281
2.
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Clin Genet
; 105(5): 499-509, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221796
3.
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.
Am J Med Genet A
; 188(9): 2627-2636, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35789103
4.
Deletion of mTOR in liver epithelial cells enhances hepatic metastasis of colon cancer.
J Pathol
; 255(3): 270-284, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34309874
5.
A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome.
Clin Genet
; 100(3): 298-307, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013972
6.
Cardiac MRI in Patients with Acute Chest Pain.
Radiographics
; 41(1): 8-31, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337967
7.
Impact of isolated hepatitis C virus (HCV) core-specific antibody detection and viral RNA amplification among HCV-seronegative dialysis patients at risk for infection.
J Clin Microbiol
; 52(8): 3053-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24850345
8.
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.
medRxiv
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503210
9.
Formation of S-(carboxymethyl)-cysteine in rat liver mitochondrial proteins: effects of caloric and methionine restriction.
Amino Acids
; 44(2): 361-71, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722543
10.
Paediatric patients with a tracheostomy: a multicentre epidemiological study.
Eur Respir J
; 40(6): 1502-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22496314
11.
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Front Cell Dev Biol
; 10: 1020609, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36726590
12.
Effect of methionine dietary supplementation on mitochondrial oxygen radical generation and oxidative DNA damage in rat liver and heart.
J Bioenerg Biomembr
; 41(3): 309-21, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19633937
13.
Effect of 40% restriction of dietary amino acids (except methionine) on mitochondrial oxidative stress and biogenesis, AIF and SIRT1 in rat liver.
Biogerontology
; 10(5): 579-92, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19039676
14.
[Effect of restricting amino acids except methionine on mitochondrial oxidative stress]. / Efecto de la restricción de aminoácidos excepto la metionina sobre el estrés oxidativo mitocondrial.
Rev Esp Geriatr Gerontol
; 44(4): 194-9, 2009.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19577342
15.
Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.
Int J Neonatal Screen
; 5(3): 32, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072991
16.
MEK1/2 inhibitor withdrawal reverses acquired resistance driven by BRAFV600E amplification whereas KRASG13D amplification promotes EMT-chemoresistance.
Nat Commun
; 10(1): 2030, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048689
17.
Effect of every other day feeding on mitochondrial free radical production and oxidative stress in mouse liver.
Rejuvenation Res
; 11(3): 621-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18593280
18.
Methionine restriction decreases mitochondrial oxygen radical generation and leak as well as oxidative damage to mitochondrial DNA and proteins.
FASEB J
; 20(8): 1064-73, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16770005
19.
Dietary protein restriction decreases oxidative protein damage, peroxidizability index, and mitochondrial complex I content in rat liver.
J Gerontol A Biol Sci Med Sci
; 62(4): 352-60, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17452727
20.
Methionine restriction decreases endogenous oxidative molecular damage and increases mitochondrial biogenesis and uncoupling protein 4 in rat brain.
Rejuvenation Res
; 10(4): 473-84, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17716000