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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: 14 nov. 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 nov. 14 ] 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 nov. 14 ] Available from: https://doi.org/10.1038/hgv.2018.10
Artigo de periodico
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause (2018)
Homma, Thais K; Krepischi, Ana Cristina Victorino ; Furuya, Tatiane K; Honjo, Rachel S; Malaquias, Alexsandra C; Bertola, Débora R; Costa, Sílvia S; Canton, Ana P; Roela, Rosimeire A; Freire, Bruna L.; Kim, Chong A; Rosenberg, Carla ; Jorge, Alexander A L
Source: Hormone Research in Paediatrics. Unidades: IB, FM
Subjects: GENÉTICA, TRANSTORNOS DO CRESCIMENTO, DESENVOLVIMENTO HUMANO, ESTATURA, CROMOSSOMOS, ENDOCRINOLOGIA
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ABNT
HOMMA, Thais K et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, p. 13-21, 2018Tradução . . Disponível em: https://doi.org/10.1159/000481777. Acesso em: 14 nov. 2024.
APA
Homma, T. K., Krepischi, A. C. V., Furuya, T. K., Honjo, R. S., Malaquias, A. C., Bertola, D. R., et al. (2018). Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, 89, 13-21. doi:10.1159/000481777
NLM
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1159/000481777
Vancouver
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1159/000481777
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: 14 nov. 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 nov. 14 ] 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 nov. 14 ] Available from: https://doi.org/10.2147/TACG.S165799
Artigo de periodico
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) (2016)
Moreira, Eloisa S; Silva, Isabela M.W; Lourenço, Naila; Moreira, Danielle P; Ribeiro, Cintia M; Martins, Ana Luiza B; Griesi-Oliveira, Karina; Lazar, Monize; Costa, Sílvia S; Naslavsky, Michel ; Rocha, Kátia M; Aguena, Meire; Fett-Conte, Agnes C; Zatz, Mayana ; Rosenberg, Carla ; Zachi, Elaine C; Bertola, Débora R; Vadasz, Estevão; Passos-Bueno, Maria Rita
Source: Research in Autism Spectrum Disorders. Unidade: IB
Subjects: AUTISMO, DOENÇAS GENÉTICAS, SEQUENCIAMENTO GENÉTICO, SEQUENCIAMENTO GENÉTICO, INTERAÇÃO SOCIAL (COMPORTAMENTO SOCIAL), TRANSTORNOS GLOBAIS DO DESENVOLVIMENTO INFANTIL
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ABNT
MOREIRA, Eloisa S et al. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH). Research in Autism Spectrum Disorders, v. 23, p. 145-151, 2016Tradução . . Disponível em: https://doi.org/10.1016/j.rasd.2015.12.012. Acesso em: 14 nov. 2024.
APA
Moreira, E. S., Silva, I. M. W., Lourenço, N., Moreira, D. P., Ribeiro, C. M., Martins, A. L. B., et al. (2016). Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH). Research in Autism Spectrum Disorders, 23, 145-151. doi:10.1016/j.rasd.2015.12.012
NLM
Moreira ES, Silva IMW, Lourenço N, Moreira DP, Ribeiro CM, Martins ALB, Griesi-Oliveira K, Lazar M, Costa SS, Naslavsky M, Rocha KM, Aguena M, Fett-Conte AC, Zatz M, Rosenberg C, Zachi EC, Bertola DR, Vadasz E, Passos-Bueno MR. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) [Internet]. Research in Autism Spectrum Disorders. 2016 ; 23 145-151.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.rasd.2015.12.012
Vancouver
Moreira ES, Silva IMW, Lourenço N, Moreira DP, Ribeiro CM, Martins ALB, Griesi-Oliveira K, Lazar M, Costa SS, Naslavsky M, Rocha KM, Aguena M, Fett-Conte AC, Zatz M, Rosenberg C, Zachi EC, Bertola DR, Vadasz E, Passos-Bueno MR. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) [Internet]. Research in Autism Spectrum Disorders. 2016 ; 23 145-151.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.rasd.2015.12.012
Artigo de periodico
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate (2013)
Izzo, Giselle; Freitas, Erika L; Krepischi, Ana Cristina Victorino ; Pearson, Peter L; Vasques, Luciana R; Passos-Bueno, Maria Rita ; Bertola, Débora R; Rosenberg, Carla
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: FISSURA LÁBIOPALATINA, MALFORMAÇÕES, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
IZZO, Giselle et al. A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate. European Journal of Medical Genetics, v. 56, n. 4, p. 222-225, 2013Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2013.01.002. Acesso em: 14 nov. 2024.
APA
Izzo, G., Freitas, E. L., Krepischi, A. C. V., Pearson, P. L., Vasques, L. R., Passos-Bueno, M. R., et al. (2013). A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate. European Journal of Medical Genetics, 56( 4), 222-225. doi:10.1016/j.ejmg.2013.01.002
NLM
Izzo G, Freitas EL, Krepischi ACV, Pearson PL, Vasques LR, Passos-Bueno MR, Bertola DR, Rosenberg C. A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate [Internet]. European Journal of Medical Genetics. 2013 ; 56( 4): 222-225.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.ejmg.2013.01.002
Vancouver
Izzo G, Freitas EL, Krepischi ACV, Pearson PL, Vasques LR, Passos-Bueno MR, Bertola DR, Rosenberg C. A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate [Internet]. European Journal of Medical Genetics. 2013 ; 56( 4): 222-225.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.ejmg.2013.01.002

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