Zobrazeno 1 - 10
of 159
pro vyhledávání: '"Giorgio A. Paskulin"'
Autor:
Rafael F. M. Rosa, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo R. G. Zen, Ceres A. V. de Oliveira, Carla Graziadio, Giorgio A. Paskulin
Publikováno v:
Jornal de Pediatria, Vol 88, Iss 5, Pp 401-405 (2012)
OBJETIVO: Verificar a frequência e os tipos de anormalidades de membros observadas entre pacientes com trissomia do cromossomo 18, ou síndrome de Edwards (SE). MÉTODO: A amostra foi constituída de pacientes consecutivos avaliados por um serviço
Externí odkaz:
https://doaj.org/article/04ad4f3aa9f34e94a26b56aeabe99344
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia, Vol 31, Iss 5, Pp 321-325 (2009)
O risco aumentado de desenvolvimento de leucemia apresentado pelos indivíduos portadores de síndrome de Down (SD) já é bem conhecido. Entretanto, a contribuição do cromossomo 21 extraconstitucional ao processo de leucemogênese, ainda não est
Externí odkaz:
https://doaj.org/article/d07d8ce3c9a14c3b9520963f07a0337e
Autor:
Luiza E. Dorfman, Agnes F. R. P. Silva, Giorgio A. Paskulin, Rafael F. M. Rosa, Paulo R. G. Zen
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 51, Iss 4, Pp 229-230 (2015)
ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambe
Externí odkaz:
https://doaj.org/article/409ad97a23b64621b1a0d59a8ed49c72
Autor:
Dayane Bohn Koshiyama Rodrigues, Ceres Andréia Vieira de Oliveira, Carla Graziadio, Giorgio Adriano Paskulin, Fabiano Pasqualotto Soares, Paulo Ricardo Gazzola Zen, Patrícia Trevisan, Marileila Varella-Garcia, Valentina Oliveira Provenzi, Rafael Fabiano Machado Rosa
Publikováno v:
J Neuropathol Exp Neurol
We investigated 113 adult Brazilian patients with glioblastoma (GBM) for comparison with patients from distinct geographical areas and evaluation of suitability for novel targeted therapies. Patients were assessed for clinical features and tumor geno
Autor:
Carla Graziadio, Paulo Ricardo Gazzola Zen, Vinicius Freitas de Mattos, Ronnie Peterson Marcondes Alves, Giorgio Adriano Paskulin, Rafael Fabiano Machado Rosa, Rene Lenhardt, Patrícia Trevisan
Publikováno v:
Pediatric Neurology. 50:612-615
Background Gomez-Lopez-Hernandez syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion, and rhombencephalosynapsis. We report the second case with this co
Autor:
Dayane Bohn Koshiyama, Giorgio Adriano Paskulin, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa, Patrícia Trevisan
Publikováno v:
British Journal of Medicine and Medical Research. 4:2296-2311
Introduction: The importance of cytogenetics in neoplastic processes such as leukemia is known. In 1914, Theodor Boveri suggested that chromosomal abnormalities were cellular alterations that cause the transition from normal to malignant proliferatio
Autor:
Juliane Nascimento da Silva, Flávia Valladão Thiesen, Ceres Andréia Vieira de Oliveira, Patrícia Trevisan, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen, Alessandra Pawelec da Silva, Rafael Fabiano Machado Rosa
Publikováno v:
Environmental Monitoring and Assessment. 186:2195-2204
The search for reliable biomarkers of human exposure to benzene and its derivatives is still subject of research. Many of the proposed biomarkers have limitations ranging from the low sensitivity to the wide variability of results. Thus, the aim of o
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
Autor:
Rosana Cardoso Manique Rosa, Rafael Fabiano Machado Rosa, Patrícia Petry, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin, Carla Graziadio, Vinicius Freitas de Mattos, Janaina Borges Polli
Publikováno v:
American Journal of Medical Genetics Part A. 161:1278-1283
Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The
Autor:
Rafael Fabiano M. Rosa, Rosana Cardoso M. Rosa, Paulo Ricardo G. Zen, Carla Graziadio, Giorgio Adriano Paskulin
Publikováno v:
Revista Paulista de Pediatria, Vol 31, Iss 1, Pp 111-120 (2013)
OBJETIVO: Revisar as características clínicas, etiológicas, diagnósticas e prognósticas da trissomia do cromossomo 18 (síndrome de Edwards). FONTES DE DADOS: Foram pesquisados artigos científicos presentes nos portais MedLine, Lilacs e SciELO,
Autor:
Rosana Cardoso Manique Rosa, Rafael Fabiano Machado Rosa, José Antônio Monteiro Flores, Eliete Golendziner, Ceres Andréia Vieira de Oliveira, Marileila Varella-Garcia, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 99, Iss 6, Pp 1092-1099 (2012)
Arquivos Brasileiros de Cardiologia, Iss ahead, p 0 (2012)
Arquivos Brasileiros de Cardiologia, Iss ahead, p 0 (2012)
FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC), trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em c