Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion
Santos-Rebouças, Cíntia B, Boy, Raquel, Vianna, Evelyn Q, Gonçalves, Andressa P, Piergiorge, Rafael M, Abdala, Bianca B, Dos Santos, Jussara M, Calassara, Veluma, Machado, Filipe B, Medina-Acosta, Enrique, Pimentel, Márcia M G
Published in Frontiers in genetics (04.03.2020)
Published in Frontiers in genetics (04.03.2020)
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A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay
Santos-Rebouças, Cíntia B., Fintelman-Rodrigues, Natalia, Jensen, Lars R., Kuss, Andreas W., Ribeiro, Márcia G., Campos, Mário, Santos, Jussara M., Pimentel, Márcia M.G.
Published in Neuroscience letters (01.07.2011)
Published in Neuroscience letters (01.07.2011)
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Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease
da Silva, Camilla P., de M. Abreu, Gabriella, Cabello Acero, Pedro H., Campos, Mário, Pereira, João S., de A. Ramos, Sarah R., Nascimento, Caroline M., Voigt, Danielle D., Rosso, Ana Lucia, Araujo Leite, Marco A., Vasconcellos, Luiz Felipe R., Nicaretta, Denise H., Della Coletta, Marcus V., da Silva, Delson José, Gonçalves, Andressa P., dos Santos, Jussara M., Calassara, Veluma, Valença, Débora Cristina T., de M. Martins, Cyro J., Santos-Rebouças, Cíntia B., Pimentel, Márcia M.G.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Association of a Common Variant of the Leptin Gene With Blood Pressure in an Obese Brazilian Population
Genelhu, Virginia A., Celoria, Bruno M.J., Pimentel, Marcia M.G., Duarte, Stênio F.P., Cabello, Pedro H., Francischetti, Emílio A.
Published in American journal of hypertension (01.05.2009)
Published in American journal of hypertension (01.05.2009)
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A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings
Santos-Rebouças, Cíntia B., Boy, Raquel, Fernandes, Gabriela N.S., Gonçalves, Andressa P., Abdala, Bianca B., Gonzalez, Lucas G.C., dos Santos, Jussara M., Pimentel, Márcia M.G.
Published in European journal of medical genetics (01.04.2023)
Published in European journal of medical genetics (01.04.2023)
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CHCHD2 mutational screening in Brazilian patients with familial Parkinson's disease
Voigt, Danielle D., Nascimento, Caroline M., de Souza, Ritiele B., Cabello Acero, Pedro H., Campos Júnior, Mário, da Silva, Camilla P., Pereira, João S., Rosso, Ana Lucia, Araujo Leite, Marco A., Vasconcellos, Luiz Felipe R., Della Coletta, Marcus V., da Silva, Delson J., Nicaretta, Denise H., Gonçalves, Andressa P., dos Santos, Jussara M., Calassara, Veluma, Santos-Rebouças, Cíntia B., Pimentel, Márcia M.G.
Published in Neurobiology of aging (01.02.2019)
Published in Neurobiology of aging (01.02.2019)
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Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil
Abreu, Gabriella de M., Valença, Débora Cristina T., Campos, Mário, da Silva, Camilla P., Pereira, João S., Araujo Leite, Marco A., Rosso, Ana Lucia, Nicaretta, Denise H., Vasconcellos, Luiz Felipe R., da Silva, Delson José, Della Coletta, Marcus V., dos Santos, Jussara M., Gonçalves, Andressa P., Santos-Rebouças, Cíntia B., Pimentel, Márcia M.G.
Published in Neuroscience letters (02.12.2016)
Published in Neuroscience letters (02.12.2016)
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Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation
Pimentel, Márcia M.G, Rodrigues, Fabíola C, Leite, Marco Antônio A, Campos Júnior, Mário, Rosso, Ana Lucia, Nicaretta, Denise H, Pereira, João S, Silva, Delson José, Della Coletta, Marcus V, Vasconcellos, Luiz Felipe R, Abreu, Gabriella M, dos Santos, Jussara M, Santos-Rebouças, Cíntia B
Published in Parkinsonism & related disorders (01.06.2015)
Published in Parkinsonism & related disorders (01.06.2015)
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Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey
Machado-Ferreira, Maria do Carmo, Costa-Lima, Marcelo A., Boy, Raquel T., Esteves, Gabriela S., Pimentel, Márcia M.G.
Published in American journal of medical genetics. Part A (30.04.2004)
Published in American journal of medical genetics. Part A (30.04.2004)
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Co-occurrence of sporadic parkinsonism and late-onset Alzheimer's disease in a Brazilian male with the LRRK2 p.G2019S mutation
Santos-Rebouças, Cíntia B, Abdalla, Cláudia B, Baldi, Fábio José R, Martins, Paloma A, Corrêa, Juliana C, Gonçalves, Andressa P, Cunha, Marcela S, Borges, Margarete B, Pereira, João S, Laks, Jerson, Pimentel, Márcia M G
Published in Genetic testing (01.12.2008)
Published in Genetic testing (01.12.2008)
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