Detalhe da pesquisa
1.
Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.
Am J Respir Cell Mol Biol
; 69(2): 147-158, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36917789
2.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Clin Genet
; 104(6): 637-647, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37702321
3.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Am J Med Genet A
; 191(1): 100-107, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36308343
4.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Clin Genet
; 100(4): 405-411, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34196401
5.
Palenque de San Basilio in Colombia: genetic data support an oral history of a paternal ancestry in Congo.
Proc Biol Sci
; 283(1827): 20152980, 2016 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-27030413
6.
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.
Front Endocrinol (Lausanne)
; 13: 965476, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36072928
7.
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cancers (Basel)
; 14(15)2022 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35954470
8.
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.
Cells
; 10(11)2021 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34831401
9.
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension.
Front Med (Lausanne)
; 8: 625763, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33996849
10.
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.
Cells
; 10(6)2021 06 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34199176
11.
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Genes (Basel)
; 11(10)2020 09 30.
Artigo
Inglês
| MEDLINE | ID: mdl-33007923
12.
[Association between polymorphism in uncoupling proteins and type 2 diabetes in a northwestern Colombian population]. / Asociación de variantes en genes de las proteínas desacoplantes con diabetes mellitus tipo 2 en una población del nordeste colombiano.
Biomedica
; 29(1): 108-18, 2009 Mar.
Artigo
Espanhol
| MEDLINE | ID: mdl-19753844
13.
Prevalence of genetic variants in pediatric pulmonary arterial hypertension associated with corrected D-transposition of the great arteries. The REHIPED registry.
Rev Esp Cardiol (Engl Ed)
; 75(5): 448-450, 2022 05.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-35058221
14.
The role of genetics in pulmonary arterial hypertension associated with congenital heart disease.
Rev Esp Cardiol (Engl Ed)
; 74(10): 884-886, 2021 10.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-33972189
15.
Una respuesta ética en la atención a residencias de ancianos en la pandemia Covid-19 / An ethical response in the care of nursing homes in the covid-19 pandemic
Cuad. bioét
; 31(102): 223-229, mayo-ago. 2020.
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-194279
16.
Calidad de vida relacionada con la salud en tuberculosis: Revisión sistemática y metanálisis / Health related Quality of life in tuberculosis: a systematic review and metanalyses
Infectio
; 22(3): 124-130, jul.-sept. 2018. tab, graf
Artigo
Espanhol
| LILACS, COLNAL | ID: biblio-953979
17.
Amerind ancestry, socioeconomic status and the genetics of type 2 diabetes in a Colombian population.
PLoS One
; 7(4): e33570, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22529894
18.
Exposure of Red Tilapia (Oreochromis spp.) eggs to 17 α-Methyltestosterone and the sex ratio of the fish offspring / Inmersión de ovas de tilapia roja (Oreochromis spp.) en diferentes estadíos de fertilización en una solución de 17 α- metiltestosterona y la proporción fenotípica del sexo / Efeito da imersão de ovas de tilápia vermelha (Oreochromis spp.) em diferentes fases de fertilização numa solução de 17α- metiltestosterona sobre a proporção fenotípica do sexo
Rev. colomb. cienc. pecu
; 24(1): 38-47, ene,-mar. 2011. ilus, tab
Artigo
Espanhol
| LILACS | ID: lil-636076
19.
Asociación de variantes en genes de las proteínas desacoplantes con diabetes mellitus tipo 2 en una población del nordeste colombiano / Association between polymorphism in uncoupling proteins and type 2 diabetes in a northwestern Colombian population
Biomédica (Bogotá)
; 29(1): 108-118, mar. 2009.
Artigo
Espanhol
| LILACS | ID: lil-526102