Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Rejane Gus"'
Autor:
Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 162-167 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and
Externí odkaz:
https://doaj.org/article/cb2cd21c4abc442088c12a59965a6411
Autor:
Caroline Soares Cristofari Emer, Julio Alejandro Peña Duque, Ana Lúcia Letti Müller, Rejane Gus, Maria Teresa Vieira Sanseverino, André Anjos da Silva, José Antonio de Azevedo Magalhães
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 37, Iss 7, Pp 333-338 (2015)
OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomi
Externí odkaz:
https://doaj.org/article/c7e66d4b9f474bf094ffd91b041073ad
Autor:
Alessandra Fritsch, Ana Lúcia Letti Müller, Maria Teresa Vieira Sanseverino, Rejane Gus Kessler, Patricia Martins Moura Barrios, Lucas Mohr Patusco, José Antonio de Azevedo Magalhães
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 34, Iss 7, Pp 310-315 (2012)
OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados en
Externí odkaz:
https://doaj.org/article/729de8b115fa4a12a8a37461a1458746
Autor:
Guilherme Baldo PhD, Fabiano Poswar MD, Andressa Federhen MSc, Camila Bittar MD, Rejane Gus PhD, Fernanda Bender MSc, Roberto Giugliani MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate. Recently enzyme replacement t
Externí odkaz:
https://doaj.org/article/a572e015164d41bca2496e3a3ff5a08b
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 27, Iss 3, Pp 125-129 (2005)
INTRODUÇÃO: pacientes em amenorréia primária com disgenesia gonadal têm níveis elevados de gonadotrofinas e necessitam de avaliação cromossômica. O estudo citogenético (cariótipo) pode ser realizado na gônada ou no sangue periférico. Nos
Externí odkaz:
https://doaj.org/article/2e4c9049f9764a6eab6395dd45e36d3a
Autor:
Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 4 (2014)
Introduction: During the past few decades, the number of diseases identified to be caused by chromosomal microdeletions has increased quickly, bringing a new and crucial role for cytogenetics on the diagnosis of these conditions. The purpose of this
Externí odkaz:
https://doaj.org/article/9722cfa8ac53483281a24f66cac910e3
Autor:
Sandra Leistner-Segal, Ana Carolina Brusius-Facchin, Rejane Gus, Maira Burin, Maria Teresa Sanseverino, José Antônio Magalhães, Roberto Giugliani
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 4 (2014)
Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells
Externí odkaz:
https://doaj.org/article/338d7fcfbc6542e59e99b67e4181bc90
Autor:
Paula Vendruscolo Tozatti, Ana Lúcia Letti Muller, Maria Teresa Viero Sanseverino, Jose Antonio de Azevedo Magalhães, Raquel Rivero, Rejane Gus
Publikováno v:
Clinical and Biomedical Research, Vol 34, Iss 2 (2014)
Placental mesenchymal dysplasia (PMD) is a rare placental abnormality. We report a case of PMD associated with intrauterine growth restriction (IUGR), which was diagnosed by an ultrasound scan during the second trimester of pregnancy. A 36-year-old p
Externí odkaz:
https://doaj.org/article/112a985cc716435c8c211fbc4146cd88
Autor:
Julio Alejandro Peña Duque, Charles Francisco Ferreira, Suzana de Azevedo Zachia, Maria Teresa Vieira Sanseverino, Rejane Gus, José Antônio de Azevedo Magalhães
Publikováno v:
Genetics and Molecular Biology, Iss 0
Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeu
Externí odkaz:
https://doaj.org/article/ee639a0862304770a8602c7c4cd0f0c8
Autor:
Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Tirelli, Kristiane Michelin, Trapp, Franciele Barbosa, Kessler, Rejane Gus, Oliveira Netto, Alice Brinckmann, Facchin, Ana Carolina Brusius, Leistner-Segal, Sandra, Sanseverino, Maria Teresa Vieira, Souza, Carolina Fischinger Moura de, Wilke, Matheus Vernet Machado Bressan, Oliveira, Thiago, Magalhães, Jose Antonio de Azevedo, Giugliani, Roberto
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and tissues o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::ccdc1748ba58d469192067ef5d79014b
