Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Mariluce Riegel"'
Autor:
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological
Externí odkaz:
https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646
Autor:
Sharbel W. Maluf, Ricardo Pires, Gisele B. Trombetta, Luiza Dorfman, Verônica Contini, Luís Arruda, Mariluce Riegel
Publikováno v:
Clinical and Biomedical Research, Vol 22, Iss 3 (2022)
Descrevemos o paciente HP, do sexo masculino, o qual apresentava quadro clínico de retardo mental leve, clinodactilia, camptodactilia, padrão alterado das pregas nas mãos e fenda palatina incompleta. Além do exame clínico, foram utilizadas técn
Externí odkaz:
https://doaj.org/article/17ca0b4cdbba4c6aacb76175449af129
Autor:
Sharbel W. Maluf, Mariluce Riegel, Silvio L.W. Almeida Jr, Janaína P. Jaeger, Ana P.B. Souza, Valcinete F. Santana, Luiza E. Dorfman, Gisele B. Trombetta, Alexandre Bacelar, Bernardo Erdtmann
Publikováno v:
Clinical and Biomedical Research, Vol 21, Iss 3 (2022)
OBJETIVOS: Este estudo teve como objetivo avaliar o nível de mutagênese em indivíduos normais não expostos, em trabalhadores expostos à radiação ionizante e drogas antineoplásicas e em indivíduos portadores de doenças genéticas, comparando
Externí odkaz:
https://doaj.org/article/37a2f974130440eaa779fc6007a0e772
Autor:
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 96-106 (2019)
Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form. This retrospective cross‐sect
Externí odkaz:
https://doaj.org/article/1bbbfb537c654eac817e77128b9848d4
Autor:
Mariela Granero Farias, Priscila Aparecida Correa Freitas, Fabiane Spagnol, Meriene Viquetti de Souza, Ana Paula Alegretti, Mariluce Riegel, Adriano Nori Rodrigues Taniguchi, Liane Esteves Daudt
Publikováno v:
Revista Paulista de Pediatria, Vol 39 (2020)
ABSTRACT Objective: To describe the case of a child who presented hemophagocytic lymphohistiocytosis (HLH) associated with acute monocytic leukemia after chemotherapy, with hemophagocytosis caused by leukemic cells. Case description: In a university
Externí odkaz:
https://doaj.org/article/96c576049f554a588ff05c1b4edc10af
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat syndrome (CdCS). Chromosomal mi
Externí odkaz:
https://doaj.org/article/2412f2ed1d174e6fb7a5e3b59f00582b
Publikováno v:
Case Reports in Genetics, Vol 2020 (2020)
Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed n
Externí odkaz:
https://doaj.org/article/52847765c48746a5800b7f65d880720c
Autor:
Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin
Publikováno v:
Genetics and Molecular Biology, Vol 40, Iss 1, Pp 31-39 (2017)
Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these condition
Externí odkaz:
https://doaj.org/article/7126ad6f4f3a4e189aaf98e00dbfe4a2
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein in
Externí odkaz:
https://doaj.org/article/ac2743f2d5c3413798920b7a20802eff
Autor:
Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiologica
Externí odkaz:
https://doaj.org/article/3b9cfc2431bf4168914bb31ecb58b269