Research output per year
Research output per year
- 17 results
Search results
-
2025
Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia
Portilla-Rojas, E., Pineda-Sanabria, P., Ramírez, L., Cuevas, M. I., Lores, J., Sarmiento, K. & Zarante, I., 01 Jan 2025, In: Journal of pediatric orthopedics. Part B. 34, 1, p. 9-13 5 p.Research output: Contribution to journal › Article › peer-review
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2024
A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020
Portilla-Rojas, E., Ramírez, L., Moreno, C., Lores, J., Sarmiento, K. & Zarante, I., Feb 2024, In: Birth Defects Research. 116, 2, e2312.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
FLNC Associada a Cardiomiopatia Restritiva e Hipertrabeculação, uma Associação Rara
Translated title of the contribution :FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association Research output: Contribution to journal › Case report article › peer-review
Open Access -
FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association
Aristizabal, A. M., Guzmán-Serrano, C. A., Lizcano, M. I., Mosquera, W., Lores, J., Pachajoa, H. & Cely, C., 2024, In: Arquivos Brasileiros de Cardiologia. 121, 5, e20230790.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Transposition of the great vessels in Bogotá and Cali, Colombia: A current perspective
Pineda-Sanabria, P., Arbelaez-Hoyos, C., Portilla-Rojas, E., Díaz, M. P., Alvarado, E. M., Villarraga, J. S., Lores, J., Sarmiento, K. & Zarante, I., 20 Dec 2024, In: Progress in Pediatric Cardiology. 76, 5 p., 101803.Research output: Contribution to journal › Article › peer-review
Open Access -
2023
Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study
López-Ponce de Leon, J. D., Estacio, M., Giraldo, N., Escalante, M., Rodas, Y., Largo, J., Lores, J., Victoria, M. C., Argote, D., Florez, N., Carrillo, D., Olaya, P., Mejia, M. & Gomez, J. E., Sep 2023, In: Journal of Clinical Medicine. 12, 17, 5682.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Importancia de la genética en la nefrología pediátrica
Translated title of the contribution :Importance of genetics in pediatric nephrology Research output: Contribution to journal › Review article › peer-review
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2022
Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies
Pachajoa, H., Gomez-Pineda, E., Giraldo-Ocampo, S. & Lores, J., 2022, In: Pharmacogenomics and Personalized Medicine. 15, p. 913-918 6 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Neurofibromatosis Type 1 and Hypospadias in a Male 46, XY with a Mutation in the NF1 Gene and a Mutation in NR5A1
Perafan-Valdes, L., Giraldo-Ocampo, S., Lores, J. & Pachajoa, H., 2022, In: Pharmacogenomics and Personalized Medicine. 15, p. 873-878 6 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2021
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
CAUSES study, McTiernan, N., Gill, H., Prada, C. E., Pachajoa, H., Lores, J., Arnesen, T., Adam, S., Du Souich, C., Elliott, A., Lehman, A., Mwenifumbo, J., Nelson, T., Van Karnebeek, C. & Friedman, J., Feb 2021, In: European Journal of Human Genetics. 29, 2, p. 280-288 9 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
2020
Acute pneumonitis and diffuse alveolar hemorrhage secondary to silicone embolism: A case report
Bejarano, A., Bautista, D. F., Sua, L. F., Pérez, B., Lores, J., Aguirre, M. & Fernández-Trujillo, L., 12 Jun 2020, In: Medicine. 99, 24, p. E20578Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
A novel APOC2 mutation in a Colombian patient with recurrent hypertriglyceridemic pancreatitis
Pinilla-Monsalve, G. D., Lores, J., Pachajoa, H., de León, J. D. L. P., López, A., Rodríguez-Rojas, L. X. & Nastasi-Catanese, J. A., 2020, In: Application of Clinical Genetics. 13, p. 63-69 7 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia
Lores, J., Prada, C. E., Ramírez-Montaño, D., Nastasi-Catanese, J. A. & Pachajoa, H., Dec 2020, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 184, 4, p. 1042-1051 10 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Ophthalmic genetics in South America
Daich Varela, M., Moya, R., Schlottmann, P. G., Hufnagel, R. B., Arberas, C., Fernández, F. M., Inga, M. E., Lores, J., Pachajoa, H., Prada, C. E. & Sallum, J. M. F., 01 Sep 2020, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 184, 3, p. 753-761 9 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
2019
Histological Transformation to Small Cell Carcinoma of an Adenosquamous Carcinoma of the Lung With Epidermal Growth Factor Receptor Mutation in Exons 20 and 21 After Treatment With Erlotinib: Case Report
Fernández-Trujillo, L., Tapia, L., Vallejo, M., Aguirre, M., Lores, J. & Sua, L. F., 2019, In: Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine. 13Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Plastic bronchitis: A case report
Grizales, C. L., González, L. M., Castrillon, M. A., Sua, L. F., Lores, J., Aguirre, M. & Fernández-Trujillo, L., 2019, In: Respiratory Medicine Case Reports. 28, 100876.Research output: Contribution to journal › Article › peer-review
8 Scopus citations -
2015
In vitro description of macroscopic changes of dental amalgam discs subject to high temperatures to forensic purposes
Arcos, C., Díaz, J. D., Canencio, K., Rodríguez, D., Viveros, C., Vega, J., Lores, J., Sinisterra, G., Sepúlveda, W. & Moreno, F., Jul 2015, In: Journal of Forensic Odonto-Stomatology. 33, 1, p. 8-18 11 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations