Browsing by Author "Riegel, Mariluce"
Now showing items 21-40 of 56
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Diagnostic and treatment strategies in mucopolysaccharidosis VI
Vairo, Filippo Pinto e; Federhen, Andressa; Baldo, Guilherme; Burin, Maira Graeff; Riegel, Mariluce; Leistner-Segal, Sandra; Giugliani, Roberto (2015) [Journal article]Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown ... -
Diagnóstico integrado de leucemia promielocítica aguda com diferenciação basofílica : relato de caso
Spagnol, Fabiane; Farias, Mariela Granero; Tabares Calvache, Ebellins; Santana, Vitor Barreto; Schaefer, Pedro Guilherme; Burin, Mariana Monteiro; Gomez, Eduardo Wandame; Alegretti, Ana Paula; Riegel, Mariluce; Weber, Cristiane Seganfredo; Paz, Alessandra Aparecida (2021) [Abstract published in event] -
Distribuicão das características fenotípicas da Síndrome de Turner em pacientes de um serviço genética médica
Riegel, Mariluce; Santos, Alexandra dos; Guerin, Yherar L. Serrano; Barcaro, Márcia; Kersting, Daniela; Fedrizzi, Daniela (1996) [Abstract published in event] -
Estudo citomolecular de regiões cromossômicas associadas a doenças genômicas
Mergener, Rafaella; Souza, Karen Regina Silva de; Dorfman, Luiza Emy; Riegel, Mariluce (2013) [Abstract published in event] -
Estudo comparativo dos cariótipos na Síndrome de Turner : HCPA x literatura
Kersting, Daniela; Barcaro, Marcia; Guerin, Yherar Lavic Serrano; Fedrizzi, Daniela; Santos, Alexandra dos; Nogueira, Antonio; Riegel, Mariluce; Faccini, Lavinia Schuler (1996) [Abstract published in event] -
Evaluation of genomic instability and cancer prevention
Maluf, Sharbel Weidner; Riegel, Mariluce; Almeida Junior, Sílvio L. W.; Jaeger, Janaína Pacheco; Souza, Ana Paula Lazzaretti de; Santana, Valcinete F.; Dorfman, Luiza Emy; Trombetta, Giselle Benvenutti; Bacelar, Alexandre; Erdtmann, Bernardo (2001) [Journal article]OBJECTIVES: This study aimed at verifying the damage index acquired from the environment and from an inherited condition in the leukocytes of workers occupationally exposed to Xradiation and antineoplastic drugs, patients ... -
Gene interaction network analysis in Wolf-Hirschhorn Syndrome
Corrêa, Thiago; Mergener, Rafaella; Leite, Júlio César; Galera, Marcial Francis; Moreira, Lília Maria de Azevedo; Vargas, José Eduardo; Riegel, Mariluce (2017) [Abstract published in event] -
Hemophagocytosis by blasts in a child with acute monocytic leukemia after chemotherapy
Farias, Mariela Granero; Freitas, Priscila Aparecida Correa; Pedrazzani, Fabiane Spagnol; Souza, Meriene Viquetti; Alegretti, Ana Paula; Riegel, Mariluce; Taniguchi, Adriano Nori Rodrigues; Daudt, Liane Esteves (2021) [Journal article]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: ... -
Hibridação genômica comparativa baseada em microarranjos (array-CGH)
Riegel, Mariluce (2012) [Abstract published in event] -
Hibridização genômica comparativa baseada em microarranjos em neonatos com anomalias congênitas : detecção de desequilíbrios cromossômicos
Dorfman, Luiza Emy; Leite, Júlio César Loguercio; Giugliani, Roberto; Riegel, Mariluce (2015) [Journal article]Objective: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects ... -
Human molecular cytogenetics : from cells to nucleotides
Riegel, Mariluce (2014) [Journal article]The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or ... -
Infertilidade : uma análise citogenética em casais inférteis
Petter, C.M.; Riegel, Mariluce; Flores, Renato Zamora (1996) [Abstract published in event] -
Information and diagnosis networks : tools to improve diagnosis and treatment for patients with rare genetic diseases
Vieira, Taiane Alves; Trapp, Franciele Barbosa; Souza, Carolina Fischinger Moura de; Faccini, Lavinia Schuler; Jardim, Laura Bannach; Schwartz, Ida Vanessa Doederlein; Riegel, Mariluce; Vargas, Carmen Regla; Burin, Maira Graeff; Leistner-Segal, Sandra; Prolla, Patrícia Ashton; Giugliani, Roberto (2019) [Journal article]Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many ... -
Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome
Corrêa, Thiago; Feltes, Bruno César; Riegel, Mariluce (2019) [Journal article]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 ... -
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype
Riegel, Mariluce; Moreira, Lília Maria de Azevedo; Espírito Santo, Layla Damasceno do; Toralles, Maria Betânia Pereira; Schinzel, Albert (2014) [Journal article]Background Few patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic ... -
Investigação citogenética-molecular de microdeleções cromossômicas associadas a doenças genômicas
Barcellos, Natália (2013) [Dissertation]Introdução: Durante as últimas décadas, a utilização de métodos moleculares como Hibridizacão in situ por fluorescência (FISH) e Hibridização Genômica Comparativa (array-CGH) mudou dramaticamente a perspectiva em relação ... -
Investigação citogenômica em indivíduos com deficiência intelectual idiopática
Abreu, Ludmila Serafim de; Riegel, Mariluce; Campos Júnior, Mário; Simão, Rafaela; Pina Neto, João Monteiro (2015) [Abstract published in event] -
Investigação neonatal de distúrbio de diferenciação sexual e restrição de crescimento conduz a diagnóstico familiar de raro cromossomo em anel
Oliveira, Bibiana Mello de; Sehbe, Mariana Eberle; Costa, Eduardo Corrêa; Giacomini, Clarice Beatriz; Riegel, Mariluce; Leite, Júlio César Loguercio (2017) [Abstract published in event] -
Malformações em fetos com trissomia dos cromossomos 13, 18 e 21 : resultados de 20 anos de experiência em um hospital público brasileiro
Kessler, Rejane Gus; Cristofari, Caroline Cristofari; Müller, Ana Lúcia Letti; Sanseverino, Maria Teresa Vieira; Barrios, Patricia Martins Moura; Silva, André Anjos da; Riegel, Mariluce; Magalhães, Jose Antonio de Azevedo (2015) [Abstract published in event] -
Mecanismos de variações cromossômicas estruturais associadas ao ganho de número de cópias de DNA
Mergener, Rafaella; Rosa, Rafael Fabiano Machado; Riegel, Mariluce (2015) [Abstract published in event]