Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Maria Betânia P, Toralles"'
Autor:
Jéssica Silva Soares, Renata Maria Rabello da Silva Lago, Maria Betânia Pereira Toralles, Laís Ribeiro Mota, Esmeralda Santos Alves, Acácia Fernandes Lacerda de Carvalho
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 65, Iss 6, Pp 739-746 (2021)
ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosa
Externí odkaz:
https://doaj.org/article/d9ef12af76e8411c8b8b068f12746555
Autor:
Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associated with seizures an
Externí odkaz:
https://doaj.org/article/22adc8b7ac914df3a0cf5814817a5e60
Publikováno v:
CoDAS, Vol 33, Iss 5 (2021)
RESUMO Objetivo Descrever o perfil vocal de indivíduos 46,XX com hiperplasia adrenal congênita, acompanhados no Ambulatório de Genética da Universidade Federal da Bahia (UFBA). Método Trata-se de um estudo descritivo e exploratório, com corte t
Externí odkaz:
https://doaj.org/article/8e1372814e2c4b41aaa2297ab90f167c
Autor:
Zeni Drubi Nogueira, Ney Boa-Sorte, Maria Efigênia de Queiroz Leite, Maria Betânia Pereira Toralles, Tatiana Amorim
Publikováno v:
Revista Paulista de Pediatria, Vol 39 (2021)
ABSTRACT Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period. Meth
Externí odkaz:
https://doaj.org/article/bf9c4d712e104b7fb85a15b9ee9cc532
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 20, Iss 3, Pp 381-386 (2016)
Context: Type 1 diabetes mellitus (T1DM) is caused by an immune-mediated destruction of pancreatic beta cells. Other autoimmune diseases can be observed in association with T1DM. The screening for celiac disease (CD) and Hashimoto's thyroiditis is ne
Externí odkaz:
https://doaj.org/article/f780bc18f10c436e943944a44679ad8e
Autor:
Bianca Costa Mota, Luciana Mattos Barros Oliveira, Renata Lago, Paula Brito, Ana Karina Canguçú-Campinho, Ubirajara Barroso, Maria Betânia Pereira Toralles
Publikováno v:
International Brazilian Journal of Urology, Vol 41, Iss 5, Pp 975-981 (2015)
ABSTRACT The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY join
Externí odkaz:
https://doaj.org/article/5fb3292577114fe2bfe7e8985ca59214
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 17, Iss 6, Pp 1053-1056 (2013)
Objectives: This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth. Materials and Methods: Retrospective, descriptive, cross-sectional study conducted from Ja
Externí odkaz:
https://doaj.org/article/6493b1d3296640aa98927d625b9803a1
Publikováno v:
Revista Brasileira em Promoção da Saúde, Vol 19, Iss 4, Pp 203-208 (2012)
The transient rise in 17-hidroxiprogesterone (17-OHP) diagnosed by neonatal screening test (NST) may lead to the incorrect diagnosis of congenital adrenal hyperplasia. To investigate this condition, a retrospective study was conducted on medical regi
Externí odkaz:
https://doaj.org/article/6284036cfd7246b280bddb05fddde102
Autor:
Maria Betânia Pereira Toralles, Jamile Rosário Kalil, Liv Aparicio Cerqueira, Crésio de Aragão Dantas Alves
Publikováno v:
Revista Brasileira em Promoção da Saúde, Vol 20, Iss 2, Pp 104-110 (2012)
The action of glucocorticoids is modulated by isoenzymes 11?-hidroxiesteróide desidrogenases (11?-HSD) type 1 and 2. The knowledge concerning these isoenzymes contribute to the understanding of the regulatory mechanisms involved in several disease p
Externí odkaz:
https://doaj.org/article/3464dacc14614448bc3d96a770365d56
Publikováno v:
Revista Brasileira em Promoção da Saúde, Vol 19, Iss 3, Pp 155-163 (2012)
In order to allow early diagnosis and more efficient treatments, many studies have been trying to define genetic markers of rheumatic diseases. Amongst them, antigens and alleles of the HLA (Human Leukocyte Antigens) system are distinguished. Located
Externí odkaz:
https://doaj.org/article/3e9675f435a145a38c683172cedafa41