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:
Rafael Fabiano Machado Rosa, Alessandra Pawelec da Silva, Thayse Bienert Goetze, Bianca de Almeida Bier, Sheila Tamanini de Almeida, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen
Publikováno v:
Brazilian Journal of Otorhinolaryngology, Vol 77, Iss 4, Pp 455-460 (2011)
Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE: To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS: The sample consisted
Externí odkaz:
https://doaj.org/article/c5315df09a2b4374b1c7557302f87724
Autor:
Rafael Fabiano Machado Rosa, Raquel Papandreus Dibi, Jamile dos Santos Picetti, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 30, Iss 10, Pp 511-517 (2008)
OBJETIVO: correlacionar as manifestações clínicas de pacientes com amenorréia e anormalidades do cromossomo X. MÉTODOS: realizou-se uma análise retrospectiva dos achados clínicos e laboratoriais das pacientes com amenorréia e anormalidades do
Externí odkaz:
https://doaj.org/article/6749ee65fac9478db5cdf4bb49888496
Autor:
Carla Graziadio, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Louise Lapagesse de Camargo Pinto, Liselotte Menke Barea, Giorgio Adriano Paskulin
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 67, Iss 3a, Pp 689-691 (2009)
Externí odkaz:
https://doaj.org/article/852febb0a20c486aadb1d296c3b2d351
Autor:
Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Cláudia Pires Ricachinevsky, Carlo Benatti Pilla, Vera Lúcia Berenstein Pereira, Tatiana Roman, Marilela Varella-Garcia, Giorgio Adriano Paskulin
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 93, Iss 4, Pp e67-e69 (2009)
Externí odkaz:
https://doaj.org/article/4009687bca0e4852b1490a4b2e8c77ee
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:
Rafael Fabiano Machado Rosa, Rosana Cardoso Manique Rosa, Rita Carolina Pozzer Krumenauer, Marileila Varella-Garcia, Giorgio Adriano Paskulin
Publikováno v:
Brazilian Journal of Otorhinolaryngology, Vol 77, Iss 4, Pp 540-540 (2011)
Externí odkaz:
https://doaj.org/article/2b7c21314cec4667a3a560b521371fa8
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