Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Edoarda Vasco de Albuquerque Albuquerque"'
Autor:
Alexia Morgana Santos Sales, Júlia Gonçalves Ferreira, Raquel Fernandes Vanderlei Vasco, Edoarda Vasco de Albuquerque Albuquerque
Publikováno v:
HSJ, Vol 14, Iss 1 (2024)
Objective: To determine the epidemiological profile of patients with type 2 diabetes mellitus in a teaching unit. Method: In this observational, cross-sectional, and descriptive study, data from the medical records of consultations conducted between
Externí odkaz:
https://doaj.org/article/ee69dc1a6ed44be3ac19bd594058a771
Autor:
Lucas José Tavares de Magalhães, Victor Gomes Rocha, Thiago Costa de Almeida, Edoarda Vasco de Albuquerque Albuquerque
Publikováno v:
Archives of Endocrinology and Metabolism (2023)
ABSTRACT Objective: We investigated the prevalence of adrenal incidentalomas (AIs) in a nonselected Brazilian population in chest computed tomography (CT) performed during the COVID-19 pandemic. Materials and methods: This was a retrospective cross-s
Externí odkaz:
https://doaj.org/article/93975bde990c43298d3a09ce7fab266f
Autor:
Funari, Kim Ca, Antonio M. Lerario, Paulo Ferrez Collett-Solberg, Edoarda Vasco de Albuquerque Albuquerque, Andrew Dauber, Miura Sugayama Sm, Honjo Kawahira Rs, Bruna L Freire, Thais Kataoka Homma, Mirian Yumie Nishi, Jorge Aal, Alexsandra C. Malaquias, Arnhold Ijp, Gabriela A Vasques, Débora Romeo Bertola
Publikováno v:
The Journal of Pediatrics. 215:192-198
Objective To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design For whole exome sequencing analysis, we selected 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc4e67eea6104c9b74119e3a4633f0f7
https://doi.org/10.1016/j.jpeds.2019.08.024
https://doi.org/10.1016/j.jpeds.2019.08.024
Autor:
Thais Kataoka Homma, Thais H. Inoue-Lima, Mirian Yumie Nishi, Ericka B. Trarbach, Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Renata C. Scalco, Berenice B. Mendonca
Publikováno v:
Endocrine Connections, Vol 8, Iss 11, Pp 1513-1519 (2019)
Endocrine Connections
Endocrine Connections
Most patients with Turner syndrome (TS) need hormone replacement therapy because of hypergonadotropic hypogonadism; individual outcomes, however, are highly variable. Our objective was to assess the influence of five estrogen receptor 1 gene (ESR1) p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2c49567efe43817bb1c69db2b40f2e
https://doi.org/10.1530/ec-19-0398
https://doi.org/10.1530/ec-19-0398
Autor:
Michelle Bianchi de Moraes, Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Natalia Torres, Elisangela P S Quedas, Alexsandra C. Malaquias, R.M. Noronha, Débora Romeo Bertola, Sandra M.F. Villares, Mariana F A Funari, Thais Kataoka Homma
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(3)
Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba04b7c40c5fddb3c10a3928b9c61de
https://pubmed.ncbi.nlm.nih.gov/33382187
https://pubmed.ncbi.nlm.nih.gov/33382187
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USP
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
A altura é uma característica humana com alta herdabilidade e a maioria das patologias que ocorrem durante a infância levam a um prejuízo do crescimento. Desta forma, a alta estatura é uma condição clínica em que é esperado uma maior influê
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e271c1d4cb0f9dcc18f157de1a6f4cfb
https://doi.org/10.11606/t.5.2020.tde-11022020-125314
https://doi.org/10.11606/t.5.2020.tde-11022020-125314
Autor:
Takeshi Mizuguchi, Bertrand Isidor, Satomi Mitsuhashi, Naomichi Matsumoto, Margaret C. S. Boguszewski, Cesar Luiz Boguszewski, Edoarda Vasco de Albuquerque Albuquerque, Noriko Miyake, Alexander A. L. Jorge, Mariana F A Funari, Satoko Miyatake, Atsushi Takata, Eri Imagawa, Antonio M. Lerario
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED. Recently, germline mutations in the SUZ12, EZH2 and EED genes have been reported in Weaver syndrome (WS) or Weaver-like syndrome, suggesting a functional link
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65accf288b032759b1e396b90e1fc88d
https://doi.org/10.1111/cge.13415
https://doi.org/10.1111/cge.13415
Publikováno v:
European Journal of Endocrinology. 176:R339-R353
Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8b204e5f58fdab73bbb4861ecc0c07
https://doi.org/10.1530/eje-16-1054
https://doi.org/10.1530/eje-16-1054
Autor:
Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Andrew Dauber, Thais Kataoka Homma, Rachel Sayuri Honjo, Antonio M. Lerario, Gabriela A Vasques, Débora Romeo Bertola, Alexsandra C. Malaquias, Mariana F A Funari, Chong Ae Kim, Bruna L Freire
Publikováno v:
Hormone research in paediatrics. 92(2)
Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by dysmorphic facial features, short stature, and expressive language delay. Objective: The aim of this study was to describe a cohort of patients with FHS and review the li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b33d494b919156fa63ca8ba02a17a7b3
https://pubmed.ncbi.nlm.nih.gov/31715605
https://pubmed.ncbi.nlm.nih.gov/31715605
Autor:
Marisa Passarelli, Paula Waki Lopes da Rosa, Maria Heloisa Massola Schimizu, Edoarda Vasco de Albuquerque Albuquerque, Rodrigo Bomeny de Paulo, Katrin Koehler, Ivo J.P. Arnhold, Berenice B. Mendonca, Angela Huebner, Maria Candida Barisson Villares Fragoso, Antonio Carlos Seguro, Madson Q. Almeida, Ana Luiza De Almeida Cardoso, Ana Claudia Latronico
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Introduction: Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. Increased oxidative stress, demonstrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bdf47fb200b79072cff8487f4b418d8
https://tud.qucosa.de/id/qucosa:70616
https://tud.qucosa.de/id/qucosa:70616