Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Autor: Salomé de Almeida, Patrícia Mendes, José M. Inácio, Rui Anjos, José António Belo, Duarte Martins, José Maio, Fernando Cristo

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e471fc5be288e33884a87e815a4001a
http://link.springer.com/article/10.1186/s12881-017-0444-1

Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Autor: Cabrera, Rodrigo, Miranda-Fernández, Marta-Catalina, Huertas Quiñones, Victor Manuel, Carreño, Marisol, Pineda, Ivonne, Restrepo, Carlos M., Silva, Claudia Tamar, Quero, Rossi, Cano, Juan David, Manrique, Diana Carolina, Camacho, Camila, Tabares, Sebastián, García, Alberto, Sandoval, Néstor, Moreno-Medina, Karen, Dennis Verano, Rodolfo Jose

Publikováno v: Repositorio U. El Bosque
Universidad El Bosque
instacron:Universidad El Bosque
Kouchoukos, N.T., Kirklin, J.W., Ebstein anomaly (2013) Cardiac Surgery: Morphology, Diagnostic Criteria, Natural History, Techniques, Results, and Indications, pp. 1576-1598., In, Kouchoukos NT, Blackstone EH, Hanley FL, eds., 4th ed, Philadelphia, PA, Elsevier/Saunders
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Background: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. Hypothesis: Phenotypic characterization of EA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b865e980bc50d0b7e1558c8af175673a

Congenital Heart Septum Defect Diagnosis on Chest X-Ray Features Using Neural Networks

Autor: K. Vanisree, S. Jyothi

Publikováno v: 2016 Second International Conference on Computational Intelligence & Communication Technology (CICT).

Artificial Neural Network is an information processing paradigm that is inspired by the biological nervous system. Decision Support System (DSS) has been identified as one of the important solution providers in the emerging field of Artificial Neural

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e11dbf753c8998fd9587500b0e1d575
https://doi.org/10.1109/cict.2016.59

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

Autor: Bruno Dallapiccola, Bruno Marino, Marleny Salazar, Victoria E. Villegas, Paola Daniele, Giuseppe Caianiello, Sonia Pachón, Giuseppe Pacileo, Giuseppe Limongelli, Federico Núñez, Valeria Maddaloni, Víctor Caicedo, Alessandro De Luca, Jaime E. Bernal, Federica Consoli

Publikováno v: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd5a8a623af37e6e54b91df57d73e95
https://repository.urosario.edu.co/handle/10336/24009

Our experience on minimally invasive heart surgery operations through right anterolateral minithoracotomy

Autor: Beşo?ul, Y., Özcan, V., Yavuz, T., Tünerir, B., Aslan, R.

Objective: Minimal invasive cardiac surgical techniques recently have been applied in the management of various cardiac lesions. The aim of the study was to evaluate right anterolateral minithoracotomy as an alternative procedures with a better cosme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cc6442113555564e2d7133b73a0a5426
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/5348