Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bruna L. Diniz"'
Autor:
Maria Angélica T. Ferreira, João Francisco O. Gonzales, Bruna L. Diniz, Maiara A. Floriani, Ana Elisa K. Bau, Rosana C. M. Rosa, Rafael Fabiano M. Rosa, Paulo Ricardo G. Zen
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 54, Iss 5, Pp 333-335 (2018)
ABSTRACT Monilethrix is a genetic condition that affects the hair shaft. We describe a family with this disease, focusing on its clinical aspects and microscopic hair characteristics. The patient was a 10-year-old female with history of hypotrichosis
Externí odkaz:
https://doaj.org/article/a447fe5b7d8649ebbc84ee0bb765f4b6
Increased levels of chitotriosidase in a patient with Alagille syndrome: association or coincidence?
Autor:
Bruna L. Diniz, Maiara A. Floriani, Maria Angélica T. Ferreira, João Francisco O. Gonzales, Nathan H. Lisboa, André Ricardo Jakimiu, Janaina Yacy H. Ferreira, Rafael Fabiano M. Rosa, Paulo Ricardo G. Zen
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 54, Iss 1, Pp 37-39 (2018)
ABSTRACT We describe a case of a patient with Alagille syndrome (AS) presenting an increased level of the enzyme chitotriosidase (ChT), evaluating factors that could justify the relationship between AS and ChT. He was a male patient with cholestatic
Externí odkaz:
https://doaj.org/article/0bddbf1297ac488d80151434683743e0
Autor:
Camilla M. V. Pereira, Larissa V. Cruz, Marina C. Girotto, André C. Cunha, Jorge Alberto B. Telles, Bruna L. Diniz, Rosana C. M. Rosa, Paulo Ricardo G. Zen, Rafael Fabiano M. Rosa
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 54, Iss 2, Pp 109-110 (2018)
ABSTRACT Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis (PA), an association still not described in the literature. Fetal ultrasound revealed righ
Externí odkaz:
https://doaj.org/article/51f11870f36444b59c7d92b9138fe9f0
Autor:
Maiara A. Floriani, Andressa S. Santos, Bruna L. Diniz, Andressa B. Glaeser, Paulo R. Gazzola Zen, Rafael F. Machado Rosa
Publikováno v:
Molecular Syndromology. 14:1-10
Introduction: Congenital heart disease (CHD) is the most common type of congenital defect reported to be one of the leading causes of mortality in the first year of life. Microdeletion and microduplication syndromes (MMS) are associated with cardiac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26a2b7e15d2819a90b4e1aa9b52dd527
https://doi.org/10.1159/000525247
https://doi.org/10.1159/000525247