Detalhe da pesquisa
1.
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Clin Genet
; 99(6): 761-771, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527381
2.
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Clin Chem Lab Med
; 58(12): 2017-2024, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32589593
3.
Noninvasive prenatal diagnosis by cell-free DNA screening for fetomaternal HPA-1a platelet incompatibility.
Transfusion
; 58(10): 2272-2279, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30222855
4.
Consumption of orange fermented beverage improves antioxidant status and reduces peroxidation lipid and inflammatory markers in healthy humans.
J Sci Food Agric
; 98(7): 2777-2786, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124773
5.
Non-invasive Prenatal Diagnosis of Feto-Maternal Platelet Incompatibility by Cold High Resolution Melting Analysis.
Adv Exp Med Biol
; 924: 67-70, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753021
6.
Screening of KRAS Mutation in Pre- and Post-Surgery Serum of Patients Suffering from Colon Cancer by COLD-PCR HRM.
Adv Exp Med Biol
; 924: 39-41, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753016
7.
Detection of p53 Mutations in Circulating DNA of Transplanted Hepatocellular Carcinoma Patients as a Biomarker of Tumor Recurrence.
Adv Exp Med Biol
; 924: 25-28, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753013
8.
Evaluation of the State of Transplanted Liver Health by Monitoring of Organ-Specific Genomic Marker in Circulating DNA from Receptor.
Adv Exp Med Biol
; 924: 113-116, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753030
9.
Prenatal genetic diagnosis of monogenic diseases.
Adv Lab Med
; 4(1): 28-51, 2023 Apr.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37359899
10.
Donor-Specific Cell-Free DNA qPCR Quantification as a Noninvasive Accurate Biomarker for Early Rejection Detection in Liver Transplantation.
J Clin Med
; 12(1)2022 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36614837
11.
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Orphanet J Rare Dis
; 16(1): 233, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020684
12.
Circulating Tumor Cells Enumeration from the Portal Vein for Risk Stratification in Early Pancreatic Cancer Patients.
Cancers (Basel)
; 13(24)2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34944773
13.
Hepatitis C Virus Clearance by Direct-Acting Antivirals Agents Improves Endothelial Dysfunction and Subclinical Atherosclerosis: HEPCAR Study.
Clin Transl Gastroenterol
; 11(8): e00203, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32955194
14.
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Medicine (Baltimore)
; 97(42): e12872, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30335002
15.
Total and Fetal Circulating Cell-Free DNA, Angiogenic, and Antiangiogenic Factors in Preeclampsia and HELLP Syndrome.
Am J Hypertens
; 30(7): 673-682, 2017 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28338787
16.
Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa.
An Pediatr (Engl Ed)
; 95(2): 116-118, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34275779
17.
Circulating cell-free DNA is a predictor of short-term neurological outcome in stroke patients treated with intravenous thrombolysis.
J Circ Biomark
; 5: 1849454416668791, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28936264
18.
Pleural fluid cell-free DNA in parapneumonic pleural effusion.
Clin Biochem
; 48(15): 1003-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26234638
19.
Obstructive sleep apnoea syndrome, endothelial function and markers of endothelialization. Changes after CPAP.
PLoS One
; 10(3): e0122091, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25815511
20.
Monitoring of transplanted liver health by quantification of organ-specific genomic marker in circulating DNA from receptor.
PLoS One
; 9(12): e113987, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25489845