Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
Mergener, Rafaella, Furtado, Gabriel Vasata, de Mattos, Eduardo Preusser, Leotti, Vanessa Bielefeldt, Jardim, Laura Bannach, Saraiva-Pereira, Maria Luiza
Published in Neuromolecular medicine (01.03.2020)
Published in Neuromolecular medicine (01.03.2020)
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Journal Article
Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome
Huiting, Wouter, Dekker, Suzanne L, van der Lienden, Joris C J, Mergener, Rafaella, Musskopf, Maiara K, Furtado, Gabriel V, Gerrits, Emma, Coit, David, Oghbaie, Mehrnoosh, Di Stefano, Luciano H, Schepers, Hein, van Waarde-Verhagen, Maria A W H, Couzijn, Suzanne, Barazzuol, Lara, LaCava, John, Kampinga, Harm H, Bergink, Steven
Published in eLife (24.02.2022)
Published in eLife (24.02.2022)
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Journal Article
invdup(8)(8q24.13q24.3)—A Complex Alteration and Its Clinical Consequences
Mergener, Rafaella, Nunes, Marcela Rodrigues, Böttcher, Ana Kalise, Siqueira, Monique Banik, Peruzzo, Helena Froener, Merola, Milene Carvalho, Riegel, Mariluce, Zen, Paulo Ricardo Gazzola
Published in Genes (01.07.2024)
Published in Genes (01.07.2024)
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Journal Article
Congenital glucose-galactose malabsorption: A case report about cause and consequence, not exactly in this order
Mergener, Rafaella, Nunes, Marcela Rodrigues, Nascimento, Lívia Polisseni Cotta, Muniz, Victória Feitosa, Graziadio, Carla, Zen, Paulo Ricardo Gazzola
Published in Global pediatrics (01.09.2024)
Published in Global pediatrics (01.09.2024)
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Journal Article
Turner syndrome and neuropsychological abnormalities: a review and case series
Guaraná, Bruna Baierle, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Diniz, Bruna Lixinski, Nunes, Maurício Rouvel, Böttcher, Ana Kalise, Rosa, Rafael Fabiano Machado, Mergener, Rafaella, Zen, Paulo Ricardo Gazzola
Published in Revista Paulista de Pediatria (2025)
Published in Revista Paulista de Pediatria (2025)
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Journal Article
16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?
Nascimento, Lívia Polisseni Cotta, Mergener, Rafaella, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Catao, Juliana Rossi, Silveira, Ana Kalise Böttcher da, Dorfman, Luiza Emy, Graziadio, Carla, Zen, Paulo Ricardo Gazzola
Published in Genes (01.08.2023)
Published in Genes (01.08.2023)
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Journal Article
New microdeletion and microduplication syndromes: A comprehensive review
Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Published in Genetics and molecular biology (01.01.2014)
Published in Genetics and molecular biology (01.01.2014)
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Journal Article
Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil
Riegel, Mariluce, Barcellos, Natália, Mergener, Rafaella, Souza, Karen Regina S. de, Leite, Júlio César L., Gus, Rejane, Moreira, Lilia Maria A., Giugliani, R.
Published in Clinical and Biomedical Research (01.11.2014)
Published in Clinical and Biomedical Research (01.11.2014)
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Journal Article
What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication
Mergener, Rafaella, Nascimento, Lívia Polisseni Cotta, Böttcher, Ana Kalise, Nunes, Marcela Rodrigues, Zen, Paulo Ricardo Gazzola
Published in Cell biochemistry and function (01.10.2024)
Published in Cell biochemistry and function (01.10.2024)
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Journal Article
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
Polese-Bonatto, Márcia, Bock, Hugo, Farias, Ana Carolina S., Mergener, Rafaella, Matte, Maria Cristina, Gil, Mirela S., Nepomuceno, Felipe, Souza, Fernanda T. S., Gus, Rejane, Giugliani, Roberto, Saraiva-Pereira, Maria Luiza
Published in Molecular neurobiology (01.09.2019)
Published in Molecular neurobiology (01.09.2019)
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Journal Article
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome
Riegel, Mariluce, Moreira, Lília Maria Azevedo, Galera, Marcial Francis, Leite, Júlio César Loguercio, Mergener, Rafaella, Corrêa, Thiago, Vargas, José Eduardo
Published in BioMed research international (01.01.2018)
Published in BioMed research international (01.01.2018)
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Journal Article
Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil
Mariluce Riegel, Nathália Barcellos, Rafaella Mergener, Karen Regina Silva de Souza, Júlio César Loguercio Leite, Rejane Gus, Lilia Maria Azevedo Moreira, Roberto Giugliani
Published in Clinical and Biomedical Research (01.11.2014)
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Published in Clinical and Biomedical Research (01.11.2014)
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