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Artigo de periodico
Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders (2024)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Scliar, Marília de Oliveira; Souza, Carolina Fischinger Moura de; Linden Jr, Hélio Van Der; Fernandes, Walter Luiz Magalhães; Otto, Paulo A ; Vianna-Morgante, Angela M ; Haddad, Luciana Amaral ; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Kim, Chong Ae; Rosenberg, Carla ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidades: IB, BIOINFORMÁTICA, FM
Subjects: MICROCEFALIA, NEUROLOGIA, GENÉTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology, 2024Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03894-8. Acesso em: 08 jul. 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Scliar, M. de O., Souza, C. F. M. de, Linden Jr, H. V. D., et al. (2024). Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology. doi:10.1007/s12035-023-03894-8
NLM
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 jul. 08 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 jul. 08 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Artigo de periodico
Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants (2023)
Chaves, Luiza D; Carvalho, Laura M. L; Tolezano, Giovanna C; Pires, Sara F; Costa, Silvia S; Scliar, Marília O. de; Giuliani, Liane de R; Bertola, Débora Romeo ; Santos-Rebouças, Cíntia B; Seo, Go Hun; Otto, Paulo A ; Rosenberg, Carla ; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidade: IB
Subjects: MULHERES, CROMOSSOMO X, RETARDO MENTAL, GENÉTICA MÉDICA
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ABNT
CHAVES, Luiza D et al. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, v. 60, p. 3758–3769, 2023Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03311-0. Acesso em: 08 jul. 2024.
APA
Chaves, L. D., Carvalho, L. M. L., Tolezano, G. C., Pires, S. F., Costa, S. S., Scliar, M. O. de, et al. (2023). Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, 60, 3758–3769. doi:10.1007/s12035-023-03311-0
NLM
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Vancouver
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Artigo de periodico
Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature (2022)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; 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 M ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Source: Journal of Autism and Developmental Disorders. Unidades: IB, FM
Subjects: MICROCEFALIA, REVISÃO SISTEMÁTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10803-022-05853-z. Acesso em: 08 jul. 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Freire, B. L., Homma, T. K., Honjo, R. S., et al. (2022). Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-022-05853-z
NLM
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 jul. 08 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 jul. 08 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Artigo de periodico
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil (2022)
Krepischi, Ana Cristina Victorino ; Villela, Darine; Costa, Silvia Souza da; Bertola, Débora R. ; Vianna-Morgante, Angela M ; Pearson, Peter L; Rosenberg, Carla
Source: Scientific Reports. Unidade: IB
Subjects: DOENÇAS CONGÊNITAS, CROMOSSOMOS, GENÉTICA, ACONSELHAMENTO GENÉTICO
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ABNT
KREPISCHI, Ana Cristina Victorino et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports, v. 12, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41598-022-19274-6. Acesso em: 08 jul. 2024.
APA
Krepischi, A. C. V., Villela, D., Costa, S. S. da, Bertola, D. R., Vianna-Morgante, A. M., Pearson, P. L., & Rosenberg, C. (2022). Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports, 12. doi:10.1038/s41598-022-19274-6
NLM
Krepischi ACV, Villela D, Costa SS da, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil [Internet]. Scientific Reports. 2022 ; 12[citado 2024 jul. 08 ] Available from: https://doi.org/10.1038/s41598-022-19274-6
Vancouver
Krepischi ACV, Villela D, Costa SS da, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil [Internet]. Scientific Reports. 2022 ; 12[citado 2024 jul. 08 ] Available from: https://doi.org/10.1038/s41598-022-19274-6
Artigo de periodico
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses (2021)
Villela, Darine ; Mazzonetto, Patricia C; Migliavacca, Michele P; Perrone, Eduardo; Guida, Gustavo; Milanezi, Maria Fernanda G; Jorge, Alexander A. L ; Ribeiro-Bicudo, Lucilene A ; Kok, Fernando ; Campagnari, Francine; Rosso-Giuliani, Liane de; Costa, Silvia Souza da; Vianna-Morgante, Angela M ; Pearson, Peter L; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: American Journal of Medical Genetics. Part A. Unidades: FM, IB
Subjects: DOENÇAS GENÉTICAS, DOENÇAS CONGÊNITAS, ANORMALIDADES CROMOSSÔMICAS, TRANSTORNO AUTÍSTICO
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ABNT
VILLELA, Darine et al. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, v. 185, n. 8, p. 2335-2344, 2021Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.62237. Acesso em: 08 jul. 2024.
APA
Villela, D., Mazzonetto, P. C., Migliavacca, M. P., Perrone, E., Guida, G., Milanezi, M. F. G., et al. (2021). Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, 185( 8), 2335-2344. doi:10.1002/ajmg.a.62237
NLM
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Vancouver
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1002/ajmg.a.62237
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 Cristina Victorino
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 et al. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, v. 5, p. 1-3, 2018Tradução . . Disponível em: https://doi.org/10.1038/hgv.2018.10. Acesso em: 08 jul. 2024.
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.[citado 2024 jul. 08 ] Available from: https://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.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1038/hgv.2018.10
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 et al. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, v. 26, p. 191-198, 2018Tradução . . Disponível em: https://doi.org/10.1007/s10577-018-9578-z. Acesso em: 08 jul. 2024.
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.[citado 2024 jul. 08 ] Available from: https://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.[citado 2024 jul. 08 ] Available from: https://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 Cristina Victorino ; 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 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, v. 11, p. 93-98, 2018Tradução . . Disponível em: https://doi.org/10.2147/TACG.S165799. Acesso em: 08 jul. 2024.
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.[citado 2024 jul. 08 ] Available from: https://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.[citado 2024 jul. 08 ] Available from: https://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 da Veiga ; 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 Cristina Victorino
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 et al. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. Epigenomes, v. 1, n. 2, p. 1-5, 2017Tradução . . Disponível em: https://doi.org/10.3390/epigenomes1020013. Acesso em: 08 jul. 2024.
APA
Bonaldi, A., Kashiwabara, A., Araújo, É. S. de, Pereira, L. da 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 L da V, 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 ACV. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review [Internet]. Epigenomes. 2017 ; 1( 2): 1-5.[citado 2024 jul. 08 ] Available from: https://doi.org/10.3390/epigenomes1020013
Vancouver
Bonaldi A, Kashiwabara A, Araújo ÉS de, Pereira L da V, 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 ACV. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review [Internet]. Epigenomes. 2017 ; 1( 2): 1-5.[citado 2024 jul. 08 ] Available from: https://doi.org/10.3390/epigenomes1020013
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 Cristina Victorino ; 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 et al. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, v. 60, n. 12, p. 667-674, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2017.08.020. Acesso em: 08 jul. 2024.
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.[citado 2024 jul. 08 ] Available from: https://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.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1016/j.ejmg.2017.08.020
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 Cristina Victorino ; Nordenskjöld, Agneta; Price, Susan M; Rosenberg, Carla ; Turnpenny, Peter D; Vianna-Morgante, Angela M ; Nordgren, Ann
Source: European Journal of Human Genetics. Unidade: IB
Subjects: FENÓTIPOS, ANOMALIA FACIAL, RETARDO MENTAL, GENÉTICA MÉDICA
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ABNT
LAURELL, Tobias et al. Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics, v. 21, n. 10, p. 1085-1092, 2013Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2012.306. Acesso em: 08 jul. 2024.
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.[citado 2024 jul. 08 ] Available from: https://doi.org/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.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1038/ejhg.2012.306
Trabalho de evento-resumo
X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation (2013)
Vianna-Morgante, Angela M ; Oliveira-Santos, Jose; Costa, Sílvia S; Bonaldi, Adriano; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: Poster Abstracts. Conference titles: International GENCODYS Conference. Integrative Networks in Intellectual Disabilities. Unidade: IB
Subjects: GENÉTICA, CROMOSSOMO X, DEFICIÊNCIA MENTAL
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ABNT
VIANNA-MORGANTE, Angela M et al. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. 2013, Anais.. Paphos: Genetic and Epigenetic Networks in Cognitive Dysfunction - GENCODY, 2013. . Acesso em: 08 jul. 2024.
APA
Vianna-Morgante, A. M., Oliveira-Santos, J., Costa, S. S., Bonaldi, A., Krepischi, A. C. V., & 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 ACV, Rosenberg C. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Poster Abstracts. 2013 ;[citado 2024 jul. 08 ]
Vancouver
Vianna-Morgante AM, Oliveira-Santos J, Costa SS, Bonaldi A, Krepischi ACV, Rosenberg C. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Poster Abstracts. 2013 ;[citado 2024 jul. 08 ]
Artigo de periodico
Germline DNA copy number variation in familial and early-onset breast cancer (2012)
Krepischi, Ana Cristina Victorino ; Achatz, Maria Izabel W; Santos, Erika Maria Monteiro; Costa, Sílvia S; Lisboa, Bianca Cristina Garcia; Brentani, Helena; Santos, Tiago M; Gonçalves, Amanda; Nóbrega, Amanda F; Pearson, Peter Lees; Vianna-Morgante, Angela M ; Carraro, Dirce M; Brentani, Ricardo Renzo; Rosenberg, Carla
Source: Breast Cancer Research. Unidades: IB, FM
Subjects: NEOPLASIAS MAMÁRIAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Research, v. 14, n. 1, p. R24-R31, 2012Tradução . . Disponível em: https://doi.org/10.1186/bcr3109. Acesso em: 08 jul. 2024.
APA
Krepischi, A. C. V., Achatz, M. I. W., Santos, E. M. M., Costa, S. S., Lisboa, B. C. G., Brentani, H., et al. (2012). Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Research, 14( 1), R24-R31. doi:10.1186/bcr3109
NLM
Krepischi ACV, Achatz MIW, Santos EMM, Costa SS, Lisboa BCG, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Germline DNA copy number variation in familial and early-onset breast cancer [Internet]. Breast Cancer Research. 2012 ; 14( 1): R24-R31.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1186/bcr3109
Vancouver
Krepischi ACV, Achatz MIW, Santos EMM, Costa SS, Lisboa BCG, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Germline DNA copy number variation in familial and early-onset breast cancer [Internet]. Breast Cancer Research. 2012 ; 14( 1): R24-R31.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1186/bcr3109
Artigo de periodico
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome (2010)
Mazzeu, J F; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino ; Oudakker, A; Rosenberg, Carla ; Szuhai, K; McGill, J; MacCrauhhan, J; Bokhoven, H van; Brunner, H G
Source: Clinical Genetics. Unidade: IB
Subjects: GENÉTICA, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MAZZEU, J F et al. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics, v. 77 n. 4, p. 404-407, 2010Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.2009.01355.x. Acesso em: 08 jul. 2024.
APA
Mazzeu, J. F., Vianna-Morgante, A. M., Krepischi, A. C. V., Oudakker, A., Rosenberg, C., Szuhai, K., et al. (2010). Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics, 77 n. 4, 404-407. doi:10.1111/j.1399-0004.2009.01355.x
NLM
Mazzeu JF, Vianna-Morgante AM, Krepischi ACV, Oudakker A, Rosenberg C, Szuhai K, McGill J, MacCrauhhan J, Bokhoven H van, Brunner HG. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome [Internet]. Clinical Genetics. 2010 ; 77 n. 4 404-407.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01355.x
Vancouver
Mazzeu JF, Vianna-Morgante AM, Krepischi ACV, Oudakker A, Rosenberg C, Szuhai K, McGill J, MacCrauhhan J, Bokhoven H van, Brunner HG. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome [Internet]. Clinical Genetics. 2010 ; 77 n. 4 404-407.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01355.x
Artigo de periodico
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy (2010)
Krepischi, Ana Cristina Victorino ; Knijnenburg, Jeroen; Bertola, Debora Romeu; Kim, Chong Ae; Pearson, Peter Lees; Bijlsma, Emilia; Szuhai, Karoly; Kok, Fernando; Vianna-Morgante, Angela M ; Rosenberg, Carla
Source: Epilepsia. Unidade: IB
Subjects: EPILEPSIA, GENÉTICA, NEUROLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, v. 51 n. 12, p. 2457-2460, 2010Tradução . . Disponível em: https://doi.org/10.1111/j.1528-1167.2010.02742.x. Acesso em: 08 jul. 2024.
APA
Krepischi, A. C. V., Knijnenburg, J., Bertola, D. R., Kim, C. A., Pearson, P. L., Bijlsma, E., et al. (2010). Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, 51 n. 12, 2457-2460. doi:10.1111/j.1528-1167.2010.02742.x
NLM
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy [Internet]. Epilepsia. 2010 ; 51 n. 12 2457-2460.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1111/j.1528-1167.2010.02742.x
Vancouver
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Pearson PL, Bijlsma E, Szuhai K, Kok F, Vianna-Morgante AM, Rosenberg C. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy [Internet]. Epilepsia. 2010 ; 51 n. 12 2457-2460.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1111/j.1528-1167.2010.02742.x
Artigo de periodico
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation (2010)
Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Costa, Sílvia S; Crolla, John, A.; Huang, Shuwen; Vianna-Morgante, Angela M
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: GENÉTICA, DOENÇAS GENÉTICAS, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. American Journal of Medical Genetics Part A, v. 152A, n. 9, p. 2376-2378, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33554. Acesso em: 08 jul. 2024.
APA
Krepischi, A. C. V., Rosenberg, C., Costa, S. S., Crolla, J., Huang, S., & Vianna-Morgante, A. M. (2010). A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. American Journal of Medical Genetics Part A, 152A( 9), 2376-2378. doi:10.1002/ajmg.a.33554
NLM
Krepischi ACV, Rosenberg C, Costa SS, Crolla J, Huang S, Vianna-Morgante AM. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 9): 2376-2378.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1002/ajmg.a.33554
Vancouver
Krepischi ACV, Rosenberg C, Costa SS, Crolla J, Huang S, Vianna-Morgante AM. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation [Internet]. American Journal of Medical Genetics Part A. 2010 ; 152A( 9): 2376-2378.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1002/ajmg.a.33554
Trabalho de evento-resumo
Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome (2010)
Mazzeu, Juliana Forte; Zhang, Feng; Carvalho, C M; Krepischi, Ana Cristina Victorino ; Yatsenko, S.; Pardono, Eliete; Otto, Paulo A ; Rosenberg, Carla ; Lupsski, J.; Vianna-Morgante, Angela M
Source: Poster Abstracts. Conference titles: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MAZZEU, Juliana Forte et al. Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. 2010, Anais.. Washingtom, DC: Instituto de Biociências, Universidade de São Paulo, 2010. . Acesso em: 08 jul. 2024.
APA
Mazzeu, J. F., Zhang, F., Carvalho, C. M., Krepischi, A. C. V., Yatsenko, S., Pardono, E., et al. (2010). Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. In Poster Abstracts. Washingtom, DC: Instituto de Biociências, Universidade de São Paulo.
NLM
Mazzeu JF, Zhang F, Carvalho CM, Krepischi ACV, Yatsenko S, Pardono E, Otto PA, Rosenberg C, Lupsski J, Vianna-Morgante AM. Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. Poster Abstracts. 2010 ;[citado 2024 jul. 08 ]
Vancouver
Mazzeu JF, Zhang F, Carvalho CM, Krepischi ACV, Yatsenko S, Pardono E, Otto PA, Rosenberg C, Lupsski J, Vianna-Morgante AM. Homozygous duplication at 10p11.21 in a boy clinical manifestations of Lin-Gettig syndrome. Poster Abstracts. 2010 ;[citado 2024 jul. 08 ]
Artigo de periodico
Chromosome imbalances in syndromic hearing loss (2009)
Catelani, A.L.P.M.; Krepischi, Ana Cristina Victorino ; Kim, C. A.; Kok, Fernando; Otto, Paulo A ; Auricchio, Maria Teresa Ballester de Melo; Mazzeu, Juliana Forte; Uehara, D. T.; Costa, S. S.; Knijnenburg, Jeroen; Tabith Junior, Alfredo; Vianna-Morgante, Angela M ; Mingroni Netto, Regina Celia ; Rosenberg, Carla
Source: Clinical Genetics. Unidade: IB
Subjects: CROMOSSOMOS, MUTAÇÃO GENÉTICA, SURDEZ
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CATELANI, A.L.P.M. et al. Chromosome imbalances in syndromic hearing loss. Clinical Genetics, v. 76, n. 5, p. 458-464, 2009Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.2009.01276.x. Acesso em: 08 jul. 2024.
APA
Catelani, A. L. P. M., Krepischi, A. C. V., Kim, C. A., Kok, F., Otto, P. A., Auricchio, M. T. B. de M., et al. (2009). Chromosome imbalances in syndromic hearing loss. Clinical Genetics, 76( 5), 458-464. doi:10.1111/j.1399-0004.2009.01276.x
NLM
Catelani ALPM, Krepischi ACV, Kim CA, Kok F, Otto PA, Auricchio MTB de M, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith Junior A, Vianna-Morgante AM, Mingroni Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss [Internet]. Clinical Genetics. 2009 ; 76( 5): 458-464.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01276.x
Vancouver
Catelani ALPM, Krepischi ACV, Kim CA, Kok F, Otto PA, Auricchio MTB de M, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith Junior A, Vianna-Morgante AM, Mingroni Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss [Internet]. Clinical Genetics. 2009 ; 76( 5): 458-464.[citado 2024 jul. 08 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01276.x
Artigo de periodico
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1 (2009)
Krepischi, Ana Cristina Victorino ; Rajan, D.; Temple, I. K.; Shrubb, V.; Crolla, J. A.; Huang, S.; Beal, S.; Otto, Paulo A ; Carter, N. P.; Vianna-Morgante, Angela M ; Rosenberg, Carla
Source: Cytogenetic and Genome Research. Unidade: IB
Subjects: RETARDO MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenetic and Genome Research, v. 125, n. 1, p. 1-7, 2009Tradução . . Acesso em: 08 jul. 2024.
APA
Krepischi, A. C. V., Rajan, D., Temple, I. K., Shrubb, V., Crolla, J. A., Huang, S., et al. (2009). Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenetic and Genome Research, 125( 1), 1-7.
NLM
Krepischi ACV, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenetic and Genome Research. 2009 ; 125( 1): 1-7.[citado 2024 jul. 08 ]
Vancouver
Krepischi ACV, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenetic and Genome Research. 2009 ; 125( 1): 1-7.[citado 2024 jul. 08 ]
Trabalho de evento-resumo
2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment (2009)
Krepischi, Ana Cristina Victorino ; Knijnenburg, Jeroen; Bertola, Débora Romeo; Kim, Chong Ae; Kok, Fernando; Vianna-Morgante, Angela M ; Rosenberg, Carla
Source: Abstracts. Conference titles: International Workshop on Fragile X and X-Linked Mental Retardation. Unidade: IB
Assunto: RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino et al. 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. 2009, Anais.. Salvador: Instituto de Biociências, Universidade de São Paulo, 2009. . Acesso em: 08 jul. 2024.
APA
Krepischi, A. C. V., Knijnenburg, J., Bertola, D. R., Kim, C. A., Kok, F., Vianna-Morgante, A. M., & Rosenberg, C. (2009). 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. In Abstracts. Salvador: Instituto de Biociências, Universidade de São Paulo.
NLM
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Kok F, Vianna-Morgante AM, Rosenberg C. 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. Abstracts. 2009 ;[citado 2024 jul. 08 ]
Vancouver
Krepischi ACV, Knijnenburg J, Bertola DR, Kim CA, Kok F, Vianna-Morgante AM, Rosenberg C. 2q24.2 microdeletions encompassing the SLC4A10 gene are associated with idiopathic epilepsy and mental impairment. Abstracts. 2009 ;[citado 2024 jul. 08 ]

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