Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes
Costa, Claudia Ismania Samogy, Silva Montenegro, Eduarda Morgana, Zarrei, Mehdi, Sá Moreira, Eloísa, Silva, Isabela Maya Wahys, Oliveira Scliar, Marília, Wang, Jaqueline Yu Ting, Zachi, Elaine Cristina, Branco, Elisa Varella, Costa, Silvia Souza, Lourenço, Naila Cristina Vilaça, Vianna‐Morgante, Angela Maria, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Scherer, Stephen W., Passos‐Bueno, Maria Rita
Published in Clinical genetics (01.01.2022)
Published in Clinical genetics (01.01.2022)
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Journal Article
Two distinct regions in 2q24.2‐q24.3 associated with idiopathic epilepsy
Krepischi, Ana Cristina Victorino, Knijnenburg, Jeroen, Bertola, Debora Romeo, Kim, Chong Ae, Pearson, Peter Lees, Bijlsma, Emilia, Szuhai, Karoly, Kok, Fernando, Vianna‐Morgante, Angela Maria, Rosenberg, Carla
Published in Epilepsia (Copenhagen) (01.12.2010)
Published in Epilepsia (Copenhagen) (01.12.2010)
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Freire, Bruna Lucheze, Homma, Thais Kataoka, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Passos-Bueno, Maria Rita, Koiffmann, Celia Priszkulnik, Kim, Chong Ae, Vianna-Morgante, Angela Maria, de Lima Jorge, Alexander Augusto, Bertola, Débora Romeo, Rosenberg, Carla, Krepischi, Ana Cristina Victorino
Published in Journal of autism and developmental disorders (01.03.2024)
Published in Journal of autism and developmental disorders (01.03.2024)
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Journal Article
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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Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication
Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Scliar, Marília de Oliveira, Fernandes, Walter Luis Magalhães, Otto, Paulo Alberto, Bertola, Débora Romeo, Rosenberg, Carla, Vianna-Morgante, Angela Maria, Krepischi, Ana Cristina Victorino
Published in International journal of molecular and cellular medicine (01.01.2020)
Published in International journal of molecular and cellular medicine (01.01.2020)
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