Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
Novel genes and sex differences in COVID-19 severity.
Hum Mol Genet
; 31(22): 3789-3806, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708486
3.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
4.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
5.
Estimation of liver fibrosis using elastography in cholestatic diseases: systematic review and meta-analysis.
Rev Esp Enferm Dig
; 2023 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366032
6.
Prevalence, features and predictive factors of liver nodules in Fontan surgery patients: The VALDIG Fonliver prospective cohort.
J Hepatol
; 72(4): 702-710, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726116
7.
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
J Clin Immunol
; 40(6): 851-860, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32594341
8.
Hepatic cystadenoma as cause of secondary Budd-Chiari syndrome.
Gastroenterol Hepatol
; 47(2): 179-180, 2024 Feb.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36967083
9.
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
BMC Med Genet
; 19(1): 36, 2018 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506490
10.
Mercaptopurine and inflammatory bowel disease: the other thiopurine.
Rev Esp Enferm Dig
; 109(1): 10-16, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27809554
11.
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
BMC Med Genet
; 17(1): 97, 2016 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27964710
12.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648933
13.
Hepatitis E seroprevalence in inflammatory bowel disease.
Gastroenterol Hepatol
; 39(3): 185-90, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26257097
14.
Diastolic dysfunction is a predictor of poor outcomes in patients with cirrhosis, portal hypertension, and a normal creatinine.
Hepatology
; 58(5): 1732-41, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23703953
15.
Prevalence of Electrographic Seizures in Hospitalized Patients With Altered Mental Status With No Significant Seizure Risk Factors Who Underwent Continuous EEG Monitoring: A Retrospective Study.
Cureus
; 16(3): e55903, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38595868
16.
[Rescue therapy with sulfasalazine prior to immunosuppressive or biological agents in ulcerative colitis poorly controlled with mesalazine]. / Rescate con sulfasalazina antes de inmunosupresores o agentes biológicos en la colitis ulcerosa mal controlada con mesalazina.
Gastroenterol Hepatol
; 36(1): 7-10, 2013 Jan.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23195755
17.
Copper and Chromium toxicity is mediated by oxidative stress in Caenorhabditis elegans: The use of nanoparticles as an immobilization strategy.
Environ Toxicol Pharmacol
; 92: 103846, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35288336
18.
Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.
Mol Genet Genomic Med
; 10(5): e1910, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266333
19.
Impact of Goal Directed Therapy in Head and Neck Oncological Surgery with Microsurgical Reconstruction: Free Flap Viability and Complications.
Cancers (Basel)
; 13(7)2021 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801607
20.
Mitochondrial genetic effect on atrial fibrillation: A case-control study.
Mitochondrion
; 56: 15-24, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33171269