10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly
Oliveira, Danyllo, Leal, Gabriela Ferraz, Sertié, Andréa L, Caires Jr, Luiz Carlos, Goulart, Ernesto, Musso, Camila Manso, Oliveira, João Ricardo Mendes de, Krepischi, Ana Cristina Victorino, Vianna-Morgante, Angela Maria, Zatz, Mayana
Published in Journal of medical genetics (01.08.2019)
Published in Journal of medical genetics (01.08.2019)
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Quantification of CSF biomarkers using an electrochemiluminescence-based detection system in the differential diagnosis of AD and sCJD
Llorens, Franc, Kruse, Niels, Schmitz, Matthias, Shafiq, Mohsin, da Cunha, José Eriton Gomes, Gotzman, Nadine, Zafar, Saima, Thune, Katrin, de Oliveira, João Ricardo Mendes, Mollenhauer, Brit, Zerr, Inga
Published in Journal of neurology (01.10.2015)
Published in Journal of neurology (01.10.2015)
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Journal Article
Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
Ferreira, Laura D., Leal, Gabriela F., de Oliveira, João Ricardo Mendes
Published in Journal of molecular neuroscience (01.12.2021)
Published in Journal of molecular neuroscience (01.12.2021)
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Journal Article
Exploring the Genetic Predisposition to Zika Virus Congenital Syndrome
de Barros, Paula Vitória Macêdo, de Oliveira, João Ricardo Mendes
Published in The Journal of infectious diseases (17.08.2020)
Published in The Journal of infectious diseases (17.08.2020)
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Journal Article
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers
Nicolas, Gaël, Charbonnier, Camille, de Lemos, Roberta Rodrigues, Richard, Anne-Claire, Guillin, Olivier, Wallon, David, Legati, Andrea, Geschwind, Daniel, Coppola, Giovanni, Frebourg, Thierry, Campion, Dominique, de Oliveira, João Ricardo Mendes, Hannequin, Didier
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.10.2015)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.10.2015)
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MiR-9-5p Regulates Genes Linked to Cerebral Calcification in the Osteogenic Differentiation Model and Induces Generalized Alteration in the Ion Channels
Bezerra, Darlene Paiva, de Aguiar, Juliana Pereira, Keasey, Matthew Philip, Rodrigues, Cláudio Gabriel, de Oliveira, João Ricardo Mendes
Published in Journal of molecular neuroscience (01.09.2021)
Published in Journal of molecular neuroscience (01.09.2021)
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Journal Article
Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice
Jensen, Nina, Schrøder, Henrik Daa, Hejbøl, Eva Kildall, Füchtbauer, Ernst-Martin, de Oliveira, João Ricardo Mendes, Pedersen, Lene
Published in Journal of molecular neuroscience (01.11.2013)
Published in Journal of molecular neuroscience (01.11.2013)
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Journal Article
The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases
Moura, Denis A. P., de Oliveira, João Ricardo Mendes
Published in Journal of molecular neuroscience (01.12.2020)
Published in Journal of molecular neuroscience (01.12.2020)
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Journal Article
Basal ganglia calcification as a putative cause for cognitive decline
de Oliveira, João Ricardo Mendes, de Oliveira, Matheus Fernandes
Published in Dementia & neuropsychologia (01.06.2013)
Published in Dementia & neuropsychologia (01.06.2013)
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Journal Article
Calcitriol Reverses the Down-Regulation Pattern of Tuberous Sclerosis Complex Genes in an In Vitro Calcification Model
dos Santos Junior, Eraldo Fonseca, de Lemos Gitirana, Roberta Rodrigues, Bezerra, Darlene Paiva, de Oliveira, João Ricardo Mendes
Published in Journal of molecular neuroscience (01.01.2018)
Published in Journal of molecular neuroscience (01.01.2018)
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Journal Article
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
David, Stéphanie, Ferreira, Joana, Quenez, Olivier, Rovelet-Lecrux, Anne, Richard, Anne-Claire, Vérin, Marc, Jurici, Snejana, Le Ber, Isabelle, Boland, Anne, Deleuze, Jean-François, Frebourg, Thierry, Mendes de Oliveira, João Ricardo, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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