Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Rafael F. M. Rosa"'
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:
Priscila H. A. Oliveira, Beatriz S. Souza, Eimi N. Pacheco, Michele S. Menegazzo, Ivan S. Corrêa, Paulo R. G. Zen, Rafael F. M. Rosa, Claudia C. Cesa, Lucia C. Pellanda, Manuel A. P. Vilela
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 110, Iss 1, Pp 84-90
Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed
Externí odkaz:
https://doaj.org/article/8bede482a33649fa86ac085fc8252912
Autor:
Luiza Emy Dorfman, Patrícia Trevisan, Diego A. Paskulin, Maiara A. Floriani, Luiza Carolina R. Scherner, Naiane C. Bassani, Andressa S. Santos, Rafael F. M. Rosa, Paulo Ricardo G. Zen
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial. 57
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75d986551f5f1f1bb8be0701d3438ea9
https://doi.org/10.5935/1676-2444.20210058
https://doi.org/10.5935/1676-2444.20210058
Autor:
Rafael F M, Rosa, Laura, Michelon, Átila, Masiero, Adyr E V, Faria, Vanessa F, De Souza, Cristine, Dietrich, Luciano V, Targa, Valentina O, Provenzi, Silvana R S, Pires, Paulo R G, Zen
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 106(3)
Gastroschisis is the most common abdominal wall defect. It is characterized by herniation of the intestine and other abdominal organs through a defect in the abdominal wall. Neuroblastoma is the most common malignant tumor observed during the neonata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::13231518495fb4926e96236662269a3c
https://pubmed.ncbi.nlm.nih.gov/26875914
https://pubmed.ncbi.nlm.nih.gov/26875914
Autor:
Ana C, Gazolla, André C, da Cunha, Jorge A B, Telles, Rosilene da S, Betat, Mayara A, Romano, Isabel, Marshall, Amanda M, Gobatto, Anna M, de H Bicca, Camila P, Arcolini, Thaís K V, Dal Pai, Luciane R, Vieira, Luciano V, Targa, Ildo, Betineli, Paulo R G, Zen, Rafael F M, Rosa
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 100(10)
Limb-body wall defect is a rare condition characterized by a combination of large and complex defects of the ventral thorax and abdominal wall with craniofacial and limb anomalies.The aim of this study was to describe the experience of our fetal medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::211e839d72678429a652fddb3dd0d2c5
https://pubmed.ncbi.nlm.nih.gov/24975578
https://pubmed.ncbi.nlm.nih.gov/24975578
Autor:
Eugene A, de Zwart-Storm, Rafael F M, Rosa, Patricia E, Martin, Regina, Foelster-Holst, Jorge, Frank, Ana E K, Bau, Paulo R G, Zen, Carla, Graziadio, Giorgio A, Paskulin, Miriam A, Kamps, Michel, van Geel, Maurice A M, van Steensel
Publikováno v:
Experimental dermatology. 20(5)
Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88265f73fcb7eb7ca0a937b5a9c550ee
https://pubmed.ncbi.nlm.nih.gov/21410767
https://pubmed.ncbi.nlm.nih.gov/21410767