Detalhe da pesquisa
1.
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Clin Genet
; 99(2): 269-280, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33174221
2.
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management.
J Thromb Thrombolysis
; 50(3): 686-688, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060721
3.
Familial hyperaldosteronism type III a novel case and review of literature.
Rev Endocr Metab Disord
; 20(1): 27-36, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569443
4.
Next generation sequencing in bleeding disorders: two novel variants in the F5 gene (Valencia-1 and Valencia-2) associated with mild factor V deficiency.
J Thromb Thrombolysis
; 48(4): 674-678, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267299
5.
Hb A1c Determination by Capillary Electrophoresis is an Efficient Method for Detecting ß-Thalassemias and Hemoglobin Variants.
Hemoglobin
; 40(5): 335-340, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535164
6.
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
Am J Med Genet A
; 167(6): 1243-51, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899426
7.
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Orphanet J Rare Dis
; 19(1): 26, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279137
8.
Cognitive Profile and Cardiovascular Risk Factors in Older Adults with Mild Cognitive Impairment.
Int J Environ Res Public Health
; 21(4)2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673411
9.
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Cancers (Basel)
; 15(5)2023 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900380
10.
Efficacy of Insulin Titration Driven by SMS in Improving Glycemic Control in People with Type 2 Diabetes.
J Clin Med
; 12(19)2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37835008
11.
Psychometric validation of the MIND Youth Questionnaire (MY-Q) to assess quality of life in Spanish patients with type 1 diabetes between 12 and 25 years old.
Endocrinol Diabetes Nutr (Engl Ed)
; 70(1): 4-13, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36764747
12.
Switching from treatment with sensor augmented pump to hybrid closed loop system in type 1 diabetes: Impact on glycemic control and neuropsychological tests in the real world.
Diabetes Res Clin Pract
; 201: 110730, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236365
13.
Impact of Diabetic Foot Multidisciplinary Unit on Incidence of Lower-Extremity Amputations by Diabetic Foot.
J Clin Med
; 12(17)2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37685675
14.
The Impact of the Length of the Common Intestinal Loop on Metabolic and Nutritional Outcomes of Patients with Severe Obesity Who Undergo of Single Anastomosis Duodeno-Ileal Bypass with Sleeve Gastrectomy: 5-Year Follow-Up.
J Laparoendosc Adv Surg Tech A
; 32(9): 955-961, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35363561
15.
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
Front Immunol
; 12: 625591, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33868243
16.
Diabetic Retinopathy and Skin Tissue Advanced Glycation End Products Are Biomarkers of Cardiovascular Events in Type 2 Diabetic Patients.
J Pers Med
; 11(12)2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34945815
17.
The Gaze Fixation Assessed by Microperimetry: A Useful Tool for the Monitoring of the Cognitive Function in Patients with Type 2 Diabetes.
J Pers Med
; 11(8)2021 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34442342
18.
Clinical Applicability of the Specific Risk Score of Dementia in Type 2 Diabetes in the Identification of Patients with Early Cognitive Impairment: Results of the MOPEAD Study in Spain.
J Clin Med
; 9(9)2020 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32847012
19.
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.
Cancers (Basel)
; 12(11)2020 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33167498
20.
Usefulness of Eye Fixation Assessment for Identifying Type 2 Diabetic Subjects at Risk of Dementia.
J Clin Med
; 8(1)2019 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626106