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Artigo de periodico
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation (2020)
Guerra, João V.S; Oliveira-Santos, José; Oliveira, Danyllo F ; Leal, Gabriela F.; Oliveira, João Ricardo M.; Costa, Sílvia S; Krepischi, Ana C.V. ; Vianna-Morgante, Angela M. ; Maschietto, Mariana
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, PESSOAS COM DEFICIÊNCIA INTELECTUAL, METILAÇÃO DE DNA, MUTAÇÃO GENÉTICA
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ABNT
GUERRA, João V.S; OLIVEIRA-SANTOS, José; OLIVEIRA, Danyllo F; et al. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. European Journal of Medical Genetics, Issy les Moulineaux, v. 63, n. 3, 2020. Disponível em: < http://dx.doi.org/10.1016/j.ejmg.2019.103737 > DOI: 10.1016/j.ejmg.2019.103737.
APA
Guerra, J. V. S., Oliveira-Santos, J., Oliveira, D. F., Leal, G. F., Oliveira, J. R. M., Costa, S. S., et al. (2020). DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation. European Journal of Medical Genetics, 63( 3). doi:10.1016/j.ejmg.2019.103737
NLM
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation [Internet]. European Journal of Medical Genetics. 2020 ; 63( 3):Available from: http://dx.doi.org/10.1016/j.ejmg.2019.103737
Vancouver
Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation [Internet]. European Journal of Medical Genetics. 2020 ; 63( 3):Available from: http://dx.doi.org/10.1016/j.ejmg.2019.103737
Artigo de periodico
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly (2018)
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
Source: Journal of Medical Genetics. Unidade: IB
Subjects: MICROCEFALIA, EXPRESSÃO GÊNICA, DOENÇAS GENÉTICAS, CRESCIMENTO E DESENVOLVIMENTO, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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ABNT
OLIVEIRA, Danyllo; LEAL, Gabriela Ferraz; SERTIÉ, Andréa L; et al. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, London, p. 1-5, 2018. Disponível em: < http://dx.doi.org/10.1136/jmedgenet-2018-105471 > DOI: 10.1136/jmedgenet-2018-105471.
APA
Oliveira, D., Leal, G. F., Sertié, A. L., Caires Jr, L. C., Goulart, E., Musso, C. M., et al. (2018). 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, 1-5. doi:10.1136/jmedgenet-2018-105471
NLM
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.Available from: http://dx.doi.org/10.1136/jmedgenet-2018-105471
Vancouver
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.Available from: http://dx.doi.org/10.1136/jmedgenet-2018-105471
Artigo de periodico
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability (2018)
Malvezzi, João V. M; Magalhaes, Ingrid H; Costa, Sílvia S; Otto, Paulo A; Rosenberg, Carla; Bertola, Débora R; Fernandes, Walter L. M; Vianna-Morgante, Angela M; Krepischi, Ana C. V
Source: Human Genome Variation. Unidade: IB
Subjects: MICROCEFALIA, DEFICIÊNCIA MENTAL, MUTAÇÃO GENÉTICA, DELEÇÃO DE GENES, ANORMALIDADES CONGÊNITAS, DEFICIÊNCIA VISUAL, CÉLULAS-TRONCO
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ABNT
MALVEZZI, João V. M; MAGALHAES, Ingrid H; COSTA, Sílvia S; et al. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, London, v. 5, p. 1-3, 2018. Disponível em: < http://dx.doi.org/10.1038/hgv.2018.10 > DOI: 10.1038/hgv.2018.10.
APA
Malvezzi, J. V. M., Magalhaes, I. H., Costa, S. S., Otto, P. A., Rosenberg, C., Bertola, D. R., et al. (2018). KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, 5, 1-3. doi:10.1038/hgv.2018.10
NLM
Malvezzi JVM, Magalhaes IH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability [Internet]. Human Genome Variation. 2018 ; 5 1-3.Available from: http://dx.doi.org/10.1038/hgv.2018.10
Vancouver
Malvezzi JVM, Magalhaes IH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability [Internet]. Human Genome Variation. 2018 ; 5 1-3.Available from: http://dx.doi.org/10.1038/hgv.2018.10
Apresentacao sonora/cenica/entrevista
Mesa redonda com Regina Mingroni Netto, Juliana Cuzzi, Thomaz Gollop e Angela Vianna Morgante no "I Simpósio de Aconselhamento Genético Multidisciplinar: Atuação e Perspectivas": atuação e perspectivas (2018)
Mingroni-Netto, Regina Célia ; Cuzzi, Juliana; Gollop, Thomaz ; Morgante, Angela Vianna
Conference titles: Simpósio de Aconselhamento Genético Multidisciplinar: Atuação e Perspectivas. Unidade: IB
Subjects: ACONSELHAMENTO GENÉTICO, GENÉTICA, GENETICISTAS
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ABNT
MINGRONI-NETTO, Regina Célia; CUZZI, Juliana; GOLLOP, Thomaz; MORGANTE, Angela Vianna. Mesa redonda com Regina Mingroni Netto, Juliana Cuzzi, Thomaz Gollop e Angela Vianna Morgante no "I Simpósio de Aconselhamento Genético Multidisciplinar: Atuação e Perspectivas": atuação e perspectivas. [S.l: s.n.], 2018.
APA
Mingroni-Netto, R. C., Cuzzi, J., Gollop, T., & Morgante, A. V. (2018). Mesa redonda com Regina Mingroni Netto, Juliana Cuzzi, Thomaz Gollop e Angela Vianna Morgante no "I Simpósio de Aconselhamento Genético Multidisciplinar: Atuação e Perspectivas": atuação e perspectivas. Sao Paulo.
NLM
Mingroni-Netto RC, Cuzzi J, Gollop T, Morgante AV. Mesa redonda com Regina Mingroni Netto, Juliana Cuzzi, Thomaz Gollop e Angela Vianna Morgante no "I Simpósio de Aconselhamento Genético Multidisciplinar: Atuação e Perspectivas": atuação e perspectivas. 2018 ;
Vancouver
Mingroni-Netto RC, Cuzzi J, Gollop T, Morgante AV. Mesa redonda com Regina Mingroni Netto, Juliana Cuzzi, Thomaz Gollop e Angela Vianna Morgante no "I Simpósio de Aconselhamento Genético Multidisciplinar: Atuação e Perspectivas": atuação e perspectivas. 2018 ;
Artigo de periodico
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion (2018)
Santos, Alexsandro dos; Campagnari, Francine; Krepischi, Ana Cristina Victorino; Câmara, Maria de Lourdes Ribeiro; Brasil, Rita de Cássia E. de Arruda; Vieira, Ligia; Vianna-Morgante, Angela M; Otto, Paulo A; Pearson, Peter L; Rosenberg, Carla
Source: Chromosome Research. Unidade: IB
Subjects: TELÔMERO, ANORMALIDADES CROMOSSÔMICAS, DOENÇAS GENÉTICAS
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ABNT
SANTOS, Alexsandro dos; CAMPAGNARI, Francine; KREPISCHI, Ana Cristina Victorino; et al. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, Dordrecht, v. 26, p. 191-198, 2018. Disponível em: < http://dx.doi.org/10.1007/s10577-018-9578-z > DOI: 10.1007/s10577-018-9578-z.
APA
Santos, A. dos, Campagnari, F., Krepischi, A. C. V., Câmara, M. de L. R., Brasil, R. de C. E. de A., Vieira, L., et al. (2018). Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, 26, 191-198. doi:10.1007/s10577-018-9578-z
NLM
Santos A dos, Campagnari F, Krepischi ACV, Câmara M de LR, Brasil R de CE de A, Vieira L, Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion [Internet]. Chromosome Research. 2018 ; 26 191-198.Available from: http://dx.doi.org/10.1007/s10577-018-9578-z
Vancouver
Santos A dos, Campagnari F, Krepischi ACV, Câmara M de LR, Brasil R de CE de A, Vieira L, Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion [Internet]. Chromosome Research. 2018 ; 26 191-198.Available from: http://dx.doi.org/10.1007/s10577-018-9578-z
Artigo de periodico
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases (2018)
Carneiro, Thaise NR; Krepischi, Ana CV; Costa, Sílvia S; Silva, Israel Tojal da; Vianna-Morgante, Angela M; Valieris, Renan; Ezquina, Suzana AM; Bertola, Débora R; Otto, Paulo A; Rosenberg, Carla
Source: The Application of Clinical Genetics. Unidade: IB
Subjects: GENOMAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, DEFICIÊNCIA MENTAL, EXONS, DIAGNÓSTICO
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ABNT
CARNEIRO, Thaise NR; KREPISCHI, Ana CV; COSTA, Sílvia S; et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, Macclesfield, v. 11, p. 93-98, 2018. Disponível em: < http://dx.doi.org/10.2147/TACG.S165799 > DOI: 10.2147/TACG.S165799.
APA
Carneiro, T. N. R., Krepischi, A. C. V., Costa, S. S., Silva, I. T. da, Vianna-Morgante, A. M., Valieris, R., et al. (2018). Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, 11, 93-98. doi:10.2147/TACG.S165799
NLM
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.Available from: http://dx.doi.org/10.2147/TACG.S165799
Vancouver
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.Available from: http://dx.doi.org/10.2147/TACG.S165799
Artigo de periodico
Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review (2017)
Bonaldi, Adriano; Kashiwabara, André; Araújo, Érica S. de; Pereira, Lygia V; Paschoal, Alexandre R; Andozia, Mayra B; Villela, Darine; Rivas, Maria P; Suemoto, Claudia K; Pasqualucci, Carlos A; Grinberg, Lea T; Brentani, Helena; Maria-Engler, Silvya Stuchi ; Carraro, Dirce M; Vianna-Morgante, Angela M; Rosenberg, Carla; Vasques, Luciana R; Krepischi, Ana
Source: Epigenomes. Unidades: IB, FM, FCF
Subjects: METILAÇÃO DE DNA, GENOMAS, EXPRESSÃO GÊNICA, GENÉTICA MÉDICA, EPIGÊNESE GENÉTICA, EMBRIÃO
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ABNT
BONALDI, Adriano; KASHIWABARA, André; ARAÚJO, Érica S. de; et al. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. Epigenomes, Basel, v. 1, n. 2, p. 1-5, 2017. Disponível em: < http://dx.doi.org/10.3390/epigenomes1020013 > DOI: 10.3390/epigenomes1020013.
APA
Bonaldi, A., Kashiwabara, A., Araújo, É. S. de, Pereira, L. V., Paschoal, A. R., Andozia, M. B., et al. (2017). Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. Epigenomes, 1( 2), 1-5. doi:10.3390/epigenomes1020013
NLM
Bonaldi A, Kashiwabara A, Araújo ÉS de, Pereira LV, Paschoal AR, Andozia MB, Villela D, Rivas MP, Suemoto CK, Pasqualucci CA, Grinberg LT, Brentani H, Maria-Engler SS, Carraro DM, Vianna-Morgante AM, Rosenberg C, Vasques LR, Krepischi A. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review [Internet]. Epigenomes. 2017 ; 1( 2): 1-5.Available from: http://dx.doi.org/10.3390/epigenomes1020013
Vancouver
Bonaldi A, Kashiwabara A, Araújo ÉS de, Pereira LV, Paschoal AR, Andozia MB, Villela D, Rivas MP, Suemoto CK, Pasqualucci CA, Grinberg LT, Brentani H, Maria-Engler SS, Carraro DM, Vianna-Morgante AM, Rosenberg C, Vasques LR, Krepischi A. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review [Internet]. Epigenomes. 2017 ; 1( 2): 1-5.Available from: http://dx.doi.org/10.3390/epigenomes1020013
Artigo de periodico
Regulatory variants of FOXG1 in the context of its topological domain organisation (2017)
Mehrjouy, Mana M; Fonseca, Ana Carolina S; Ehmke, Nadja; Paskulin, Giorgio; Novelli, Antonio; Benedicenti, Francesco; Mencarelli, Maria Antonietta; Renieri, Alessandra; Busa, Tiffany; Missirian, Chantal; Hansen, Claus; Abe, Kikue Terada; Speck-Martins, Carlos Eduardo; Vianna-Morgante, Angela M; Bak, Mads; Tommerup, Niels
Source: European Journal of Human Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, CÉLULAS-TRONCO, GENOMAS, CROMOSSOMOS, NEUROGENÉTICA, GENÉTICA MÉDICA
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ABNT
MEHRJOUY, Mana M; FONSECA, Ana Carolina S; EHMKE, Nadja; et al. Regulatory variants of FOXG1 in the context of its topological domain organisation. European Journal of Human Genetics, London, 2017. Disponível em: < http://dx.doi.org/10.1038/s41431-017-0011-4 > DOI: 10.1038/s41431-017-0011-4.
APA
Mehrjouy, M. M., Fonseca, A. C. S., Ehmke, N., Paskulin, G., Novelli, A., Benedicenti, F., et al. (2017). Regulatory variants of FOXG1 in the context of its topological domain organisation. European Journal of Human Genetics. doi:10.1038/s41431-017-0011-4
NLM
Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N. Regulatory variants of FOXG1 in the context of its topological domain organisation [Internet]. European Journal of Human Genetics. 2017 ;Available from: http://dx.doi.org/10.1038/s41431-017-0011-4
Vancouver
Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N. Regulatory variants of FOXG1 in the context of its topological domain organisation [Internet]. European Journal of Human Genetics. 2017 ;Available from: http://dx.doi.org/10.1038/s41431-017-0011-4
Artigo de periodico
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting (2017)
Villela, Darine; Costa, Silvia Souza; Vianna-Morgante, Angela M; Krepischi, Ana C. V; Rosenberg, Carla
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: CITOGENÉTICA MOLECULAR, SEQUÊNCIA DO DNA, GENOMAS, ANORMALIDADES CROMOSSÔMICAS, NUCLEOTÍDEOS
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ABNT
VILLELA, Darine; COSTA, Silvia Souza; VIANNA-MORGANTE, Angela M; KREPISCHI, Ana C. V; ROSENBERG, Carla. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, Issy les Moulineaux, v. 60, n. 12, p. 667-674, 2017. Disponível em: < http://dx.doi.org/10.1016/j.ejmg.2017.08.020 > DOI: 10.1016/j.ejmg.2017.08.020.
APA
Villela, D., Costa, S. S., Vianna-Morgante, A. M., Krepischi, A. C. V., & Rosenberg, C. (2017). Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, 60( 12), 667-674. doi:10.1016/j.ejmg.2017.08.020
NLM
Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting [Internet]. European Journal of Medical Genetics. 2017 ; 60( 12): 667-674.Available from: http://dx.doi.org/10.1016/j.ejmg.2017.08.020
Vancouver
Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting [Internet]. European Journal of Medical Genetics. 2017 ; 60( 12): 667-674.Available from: http://dx.doi.org/10.1016/j.ejmg.2017.08.020
Artigo de periodico
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation (2015)
Fonseca, Ana Carolina S.; Bonaldi, Adriano; Fonseca, Simone A. S.; Otto, Paulo Alberto; Kok, Fernando; Bak, Mads; Tommerup, Niels; Vianna-Morgante, Angela Maria
Source: Molecular Cytogenetics. Unidades: IB, FM
Subjects: GENÉTICA, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS
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ABNT
FONSECA, Ana Carolina S.; BONALDI, Adriano; FONSECA, Simone A. S.; et al. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. Molecular Cytogenetics, London, 2015. Disponível em: < https://doi.org/10.1186/s13039-015-0205-9 > DOI: 10.1186/s13039-015-0205-9.
APA
Fonseca, A. C. S., Bonaldi, A., Fonseca, S. A. S., Otto, P. A., Kok, F., Bak, M., et al. (2015). The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. Molecular Cytogenetics. doi:10.1186/s13039-015-0205-9
NLM
Fonseca ACS, Bonaldi A, Fonseca SAS, Otto PA, Kok F, Bak M, Tommerup N, Vianna-Morgante AM. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation [Internet]. Molecular Cytogenetics. 2015 ;Available from: https://doi.org/10.1186/s13039-015-0205-9
Vancouver
Fonseca ACS, Bonaldi A, Fonseca SAS, Otto PA, Kok F, Bak M, Tommerup N, Vianna-Morgante AM. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation [Internet]. Molecular Cytogenetics. 2015 ;Available from: https://doi.org/10.1186/s13039-015-0205-9
Artigo de periodico
PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl (2013)
Fonseca, Ana Carolina dos Santos; Bonaldi, Adrianao; Costa, Silvia Souza da; Freitas, M. r; Kok, Fernando; Vianna-Morgante, Angela Maria
Source: Clinical Genetics. Unidade: IB
Subjects: GENÉTICA, DOENÇAS, SISTEMA NERVOSO CENTRAL
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ABNT
FONSECA, Ana Carolina dos Santos; BONALDI, Adrianao; COSTA, Silvia Souza da; et al. PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, Malden, v. 83, n. 2, p. 169-174, 2013. Disponível em: < http://dx.doi.org/10.1111/j.1399-0004.2012.01854.x > DOI: 10.1111/j.1399-0004.2012.01854.x.
APA
Fonseca, A. C. dos S., Bonaldi, A., Costa, S. S. da, Freitas, M. r, Kok, F., & Vianna-Morgante, A. M. (2013). PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, 83( 2), 169-174. doi:10.1111/j.1399-0004.2012.01854.x
NLM
Fonseca AC dos S, Bonaldi A, Costa SS da, Freitas M r, Kok F, Vianna-Morgante AM. PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl [Internet]. Clinical Genetics. 2013 ; 83( 2): 169-174.Available from: http://dx.doi.org/10.1111/j.1399-0004.2012.01854.x
Vancouver
Fonseca AC dos S, Bonaldi A, Costa SS da, Freitas M r, Kok F, Vianna-Morgante AM. PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl [Internet]. Clinical Genetics. 2013 ; 83( 2): 169-174.Available from: http://dx.doi.org/10.1111/j.1399-0004.2012.01854.x
Artigo de periodico
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia (2013)
Fonseca, Ana Carolina S; Bonaldi, Adriano; Bertola, Débora R; Kim, Chong A; Otto, Paulo Alberto; Vianna-Morgante, Angela Maria
Source: BMC Medical Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, GENÉTICA MÉDICA
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ABNT
FONSECA, Ana Carolina S; BONALDI, Adriano; BERTOLA, Débora R; et al. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Medical Genetics, London, v. 14, n. 50, p. 1-10 (on-line), 2013. Disponível em: < http://dx.doi.org/10.1186/1471-2350-14-50 > DOI: 10.1186/1471-2350-14-50.
APA
Fonseca, A. C. S., Bonaldi, A., Bertola, D. R., Kim, C. A., Otto, P. A., & Vianna-Morgante, A. M. (2013). The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Medical Genetics, 14( 50), 1-10 (on-line). doi:10.1186/1471-2350-14-50
NLM
Fonseca ACS, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia [Internet]. BMC Medical Genetics. 2013 ; 14( 50): 1-10 (on-line).Available from: http://dx.doi.org/10.1186/1471-2350-14-50
Vancouver
Fonseca ACS, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia [Internet]. BMC Medical Genetics. 2013 ; 14( 50): 1-10 (on-line).Available from: http://dx.doi.org/10.1186/1471-2350-14-50
Artigo de periodico
Molecular and clinical delineation of the 17q22 microdeletion phenotype (2013)
Laurell, Tobias; Lundin, Johanna; Anderlid, Britt-Marie; Gorski, Jerome L; Grigelioniene, Giedre; Knight, Samantha J. L; Krepischi, Ana C. V; Nordenskjöld, Agneta; Price, Susan M; Rosenberg, Carla; Turnpenny, Peter D; Vianna-Morgante, Angela Maria; Nordgren, Ann
Source: European Journal of Human Genetics. Unidade: IB
Subjects: FENÓTIPOS, ANOMALIA FACIAL, RETARDO MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LAURELL, Tobias; LUNDIN, Johanna; ANDERLID, Britt-Marie; et al. Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics, London, v. 21, n. 10, p. 1085-1092, 2013. Disponível em: < http://10.1038/ejhg.2012.306 > DOI: 10.1038/ejhg.2012.306.
APA
Laurell, T., Lundin, J., Anderlid, B. -M., Gorski, J. L., Grigelioniene, G., Knight, S. J. L., et al. (2013). Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics, 21( 10), 1085-1092. doi:10.1038/ejhg.2012.306
NLM
Laurell T, Lundin J, Anderlid B-M, Gorski JL, Grigelioniene G, Knight SJL, Krepischi ACV, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype [Internet]. European Journal of Human Genetics. 2013 ; 21( 10): 1085-1092.Available from: http://10.1038/ejhg.2012.306
Vancouver
Laurell T, Lundin J, Anderlid B-M, Gorski JL, Grigelioniene G, Knight SJL, Krepischi ACV, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype [Internet]. European Journal of Human Genetics. 2013 ; 21( 10): 1085-1092.Available from: http://10.1038/ejhg.2012.306
Trabalho de evento-resumo
Aconselhamento genético (2013)
Vianna-Morgante, Angela Maria
Source: Minicursos. Conference titles: Congresso de Biólogos do CRBio-01. Unidade: IB
Assunto: ACONSELHAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VIANNA-MORGANTE, Angela Maria. Aconselhamento genético. Anais.. Santos: Conselho Regional de Biologia - CRBio-1 (SP, MT, MS), 2013.
APA
Vianna-Morgante, A. M. (2013). Aconselhamento genético. In Minicursos. Santos: Conselho Regional de Biologia - CRBio-1 (SP, MT, MS).
NLM
Vianna-Morgante AM. Aconselhamento genético. Minicursos. 2013 ;
Vancouver
Vianna-Morgante AM. Aconselhamento genético. Minicursos. 2013 ;
Artigo de periodico
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy (2013)
Haddad, Dominik M.; Vilain, Sven; Vos, Melissa; Esposito, Giovanni; Matta, Samer; Kalscheuer, Vera M; Craessaerts, Katleen; Leyssen, Maarten; Nascimento, Rafaella M. P; Vianna-Morgante, Angela Maria; Strooper, Bart De; Esch, Hilde Van; Morais, Vanessa A; Verstreken, Patrik
Source: Molecular Cell. Unidade: IB
Subjects: CROMOSSOMO X, MUTAÇÃO GENÉTICA, DEFICIÊNCIA MENTAL, PROTEÍNAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
HADDAD, Dominik M.; VILAIN, Sven; VOS, Melissa; et al. Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Molecular Cell, Cambridge, v. 50, n. 6, p. 831-843, 2013. Disponível em: < http://dx.doi.org/10.1016/j.molcel.2013.04.012 > DOI: 10.1016/j.molcel.2013.04.012.
APA
Haddad, D. M., Vilain, S., Vos, M., Esposito, G., Matta, S., Kalscheuer, V. M., et al. (2013). Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Molecular Cell, 50( 6), 831-843. doi:10.1016/j.molcel.2013.04.012
NLM
Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RMP, Vianna-Morgante AM, Strooper BD, Esch HV, Morais VA, Verstreken P. Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy [Internet]. Molecular Cell. 2013 ; 50( 6): 831-843.Available from: http://dx.doi.org/10.1016/j.molcel.2013.04.012
Vancouver
Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RMP, Vianna-Morgante AM, Strooper BD, Esch HV, Morais VA, Verstreken P. Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy [Internet]. Molecular Cell. 2013 ; 50( 6): 831-843.Available from: http://dx.doi.org/10.1016/j.molcel.2013.04.012
Trabalho de evento-resumo
Perdas e ganhos de segmentos genômicos e sua associação com doenças genéticas (2013)
Vianna-Morgante, Angela Maria
Source: Mesa redonda. Conference titles: Congresso de Biólogos do CRBio-01. Unidade: IB
Subjects: DNA, GENOMAS, CROMOSSOMOS, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VIANNA-MORGANTE, Angela Maria. Perdas e ganhos de segmentos genômicos e sua associação com doenças genéticas. Anais.. Santos: Conselho Regional de Biologia - CRBio-1 (SP, MT, MS), 2013.
APA
Vianna-Morgante, A. M. (2013). Perdas e ganhos de segmentos genômicos e sua associação com doenças genéticas. In Mesa redonda. Santos: Conselho Regional de Biologia - CRBio-1 (SP, MT, MS).
NLM
Vianna-Morgante AM. Perdas e ganhos de segmentos genômicos e sua associação com doenças genéticas. Mesa redonda. 2013 ;
Vancouver
Vianna-Morgante AM. Perdas e ganhos de segmentos genômicos e sua associação com doenças genéticas. Mesa redonda. 2013 ;
Trabalho de evento-resumo
X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation (2013)
Vianna-Morgante, Angela Maria; Oliveira-Santos, Jose; Costa, Sílvia S; Bonaldi, Adriano; Krepischi, Ana Cristina; Rosenberg, Carla
Source: Poster Abstracts. Conference titles: International GENCODYS Conference. Integrative Networks in Intellectual Disabilities. Unidade: IB
Subjects: GENÉTICA, CROMOSSOMO X, DEFICIÊNCIA MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VIANNA-MORGANTE, Angela Maria; OLIVEIRA-SANTOS, Jose; COSTA, Sílvia S; et al. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Anais.. Paphos: Genetic and Epigenetic Networks in Cognitive Dysfunction - GENCODY, 2013.
APA
Vianna-Morgante, A. M., Oliveira-Santos, J., Costa, S. S., Bonaldi, A., Krepischi, A. C., & Rosenberg, C. (2013). X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. In Poster Abstracts. Paphos: Genetic and Epigenetic Networks in Cognitive Dysfunction - GENCODY.
NLM
Vianna-Morgante AM, Oliveira-Santos J, Costa SS, Bonaldi A, Krepischi AC, Rosenberg C. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Poster Abstracts. 2013 ;
Vancouver
Vianna-Morgante AM, Oliveira-Santos J, Costa SS, Bonaldi A, Krepischi AC, Rosenberg C. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Poster Abstracts. 2013 ;
Artigo de periodico
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes (2013)
Stofanko, Martin; Gonçalves-Dornelas, Higgor; Cunha, Pricila Silva; Pena, Heloísa; Vianna-Morgante, Angela Maria; Pena, Sergio Danilo Junho
Source: PLOS ONE. Unidade: IB
Subjects: TRANSCRIÇÃO GÊNICA, DOENÇAS GENÉTICAS, POLIMORFISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
STOFANKO, Martin; GONÇALVES-DORNELAS, Higgor; CUNHA, Pricila Silva; et al. Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. PLOS ONE, San Francisco, v. 8, n. 4, p. 1-08 art. e61328, 2013. Disponível em: < http://dx.doi.org/10.1371/journal.pone.0061328 > DOI: 10.1371/journal.pone.0061328.
APA
Stofanko, M., Gonçalves-Dornelas, H., Cunha, P. S., Pena, H., Vianna-Morgante, A. M., & Pena, S. D. J. (2013). Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. PLOS ONE, 8( 4), 1-08 art. e61328. doi:10.1371/journal.pone.0061328
NLM
Stofanko M, Gonçalves-Dornelas H, Cunha PS, Pena H, Vianna-Morgante AM, Pena SDJ. Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes [Internet]. PLOS ONE. 2013 ; 8( 4): 1-08 art. e61328.Available from: http://dx.doi.org/10.1371/journal.pone.0061328
Vancouver
Stofanko M, Gonçalves-Dornelas H, Cunha PS, Pena H, Vianna-Morgante AM, Pena SDJ. Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes [Internet]. PLOS ONE. 2013 ; 8( 4): 1-08 art. e61328.Available from: http://dx.doi.org/10.1371/journal.pone.0061328
Artigo de periodico
Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra (2012)
Azevedo, Nathália F; Svartman, Marta; Manchester, Andrea; Moraes-Barros, Nádia de; Stanyon, Roscoe; Vianna-Morgante, Angela Maria
Source: BMC Evolutionary Biology. Unidade: IB
Subjects: XENARTHRA, CARIOTIPAGEM
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
AZEVEDO, Nathália F; SVARTMAN, Marta; MANCHESTER, Andrea; et al. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra. BMC Evolutionary Biology, London, v. 12, n. 36, p. 1-12, 2012. Disponível em: < http://dx.doi.org/10.1186/1471-2148-12-36 > DOI: 10.1186/1471-2148-12-36.
APA
Azevedo, N. F., Svartman, M., Manchester, A., Moraes-Barros, N. de, Stanyon, R., & Vianna-Morgante, A. M. (2012). Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra. BMC Evolutionary Biology, 12( 36), 1-12. doi:10.1186/1471-2148-12-36
NLM
Azevedo NF, Svartman M, Manchester A, Moraes-Barros N de, Stanyon R, Vianna-Morgante AM. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra [Internet]. BMC Evolutionary Biology. 2012 ; 12( 36): 1-12.Available from: http://dx.doi.org/10.1186/1471-2148-12-36
Vancouver
Azevedo NF, Svartman M, Manchester A, Moraes-Barros N de, Stanyon R, Vianna-Morgante AM. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra [Internet]. BMC Evolutionary Biology. 2012 ; 12( 36): 1-12.Available from: http://dx.doi.org/10.1186/1471-2148-12-36
Artigo de periodico
Mutations, clinical findings and survival estimates in South American patients with x-linked adrenoleukodystrophy (2012)
Pereira, Fernanda dos Santos; Matte, Ursula; Habekost, Clarissa Troller; Castilhos, Raphael Machado de; El Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela Maria; Giuliani, Liane; Galera, Marcial Francis; Honjo, Rachel; Kim, Chong Ae; Politei, Juan; Vargas, Carmen Regla; Jardim, Laura Bannach
Source: PLOS ONE. Unidade: IB
Subjects: GENÉTICA, DOENÇAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PEREIRA, Fernanda dos Santos; MATTE, Ursula; HABEKOST, Clarissa Troller; et al. Mutations, clinical findings and survival estimates in South American patients with x-linked adrenoleukodystrophy. PLOS ONE, San Francisco, v. 7, n. 3, p. e34195, 2012. Disponível em: < http://dx.doi.org/10.1371/journal.pone.0034195 > DOI: 10.1371/journal.pone.0034195.
APA
Pereira, F. dos S., Matte, U., Habekost, C. T., Castilhos, R. M. de, El Husny, A. S., Lourenço, C. M., et al. (2012). Mutations, clinical findings and survival estimates in South American patients with x-linked adrenoleukodystrophy. PLOS ONE, 7( 3), e34195. doi:10.1371/journal.pone.0034195
NLM
Pereira F dos S, Matte U, Habekost CT, Castilhos RM de, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB. Mutations, clinical findings and survival estimates in South American patients with x-linked adrenoleukodystrophy [Internet]. PLOS ONE. 2012 ; 7( 3): e34195.Available from: http://dx.doi.org/10.1371/journal.pone.0034195
Vancouver
Pereira F dos S, Matte U, Habekost CT, Castilhos RM de, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB. Mutations, clinical findings and survival estimates in South American patients with x-linked adrenoleukodystrophy [Internet]. PLOS ONE. 2012 ; 7( 3): e34195.Available from: http://dx.doi.org/10.1371/journal.pone.0034195

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