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Artigo de periodico
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome (2023)
Carvalho, Laura Machado Lara; Branco, Elisa Varella ; Sarafian, Raquel Delgado ; Kobayashi, Gerson Shigeru ; Araújo, Fabiano Tófoli de; Souza, Lucas Santos ; Moreira, Danielle de Paula; Hsia, Gabriella Shih Ping ; Bertollo, Eny Maria Goloni; Buck, Cecília Barbosa; Costa, Silvia Souza da; Fialho, Davi Mendes; Vasconcelos, Felipe Tadeu Galante Rocha de; Brito, Luciano Abreu; Machado, Luciana Elena de Souza Fraga; Ramos, Igor Cabreira; Pereira, Lygia da Veiga ; Koiffmann, Celia Priszkulnik ; Passos-Bueno, Maria Rita ; Mendes, Tiago Antonio de Oliveira; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: Gene. Unidades: IB, BIOTECNOLOGIA, IQ
Subjects: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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ABNT
CARVALHO, Laura Machado Lara et al. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, v. 871, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.gene.2023.147424. Acesso em: 19 nov. 2024.
APA
Carvalho, L. M. L., Branco, E. V., Sarafian, R. D., Kobayashi, G. S., Araújo, F. T. de, Souza, L. S., et al. (2023). Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, 871. doi:10.1016/j.gene.2023.147424
NLM
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.gene.2023.147424
Vancouver
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.gene.2023.147424
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: 19 nov. 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 nov. 19 ] 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 nov. 19 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Artigo de periodico
Genetic investigation of syndromic forms of obesity (2022)
Carvalho, Laura Machado Lara ; D\2019Angelo, John ; Villela, Darine ; Costa, Silvia Souza da; Jorge, Alexander Augusto de Lima ; Silva, Israel Tojal da; Scliar, Marília de Oliveira; Chaves, Luiza Dias; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Source: International Journal of Obesity. Unidades: IB, FM
Subjects: OBESIDADE, GENES
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ABNT
CARVALHO, Laura Machado Lara et al. Genetic investigation of syndromic forms of obesity. International Journal of Obesity, v. 46, p. 1582–1586, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41366-022-01149-5. Acesso em: 19 nov. 2024.
APA
Carvalho, L. M. L., D\2019Angelo, J., Villela, D., Costa, S. S. da, Jorge, A. A. de L., Silva, I. T. da, et al. (2022). Genetic investigation of syndromic forms of obesity. International Journal of Obesity, 46, 1582–1586. doi:10.1038/s41366-022-01149-5
NLM
Carvalho LML, D\2019Angelo J, Villela D, Costa SS da, Jorge AA de L, Silva IT da, Scliar M de O, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Genetic investigation of syndromic forms of obesity [Internet]. International Journal of Obesity. 2022 ; 46 1582–1586.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41366-022-01149-5
Vancouver
Carvalho LML, D\2019Angelo J, Villela D, Costa SS da, Jorge AA de L, Silva IT da, Scliar M de O, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Genetic investigation of syndromic forms of obesity [Internet]. International Journal of Obesity. 2022 ; 46 1582–1586.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/s41366-022-01149-5
Artigo de periodico
Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta) (2021)
Doyle, Esmeralda D.; Prates, Ivan ; Sampaio, Iracilda; Koiffmann, Celia Priszkulnik ; Silva Junior, Wilson Araújo da ; Carnaval, Ana Carolina ; Harris, Eugene E.
Source: Primates. Unidades: FMRP, IB
Subjects: ALOUATTA, FILOGENIA, PRIMATAS, EVOLUÇÃO, ANÁLISE DE SEQUÊNCIA DE DNA
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ABNT
DOYLE, Esmeralda D. et al. Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta). Primates, v. 62, p. 177-188, 2021Tradução . . Disponível em: https://doi.org/10.1007/s10329-020-00854-x. Acesso em: 19 nov. 2024.
APA
Doyle, E. D., Prates, I., Sampaio, I., Koiffmann, C. P., Silva Junior, W. A. da, Carnaval, A. C., & Harris, E. E. (2021). Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta). Primates, 62, 177-188. doi:10.1007/s10329-020-00854-x
NLM
Doyle ED, Prates I, Sampaio I, Koiffmann CP, Silva Junior WA da, Carnaval AC, Harris EE. Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta) [Internet]. Primates. 2021 ; 62 177-188.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10329-020-00854-x
Vancouver
Doyle ED, Prates I, Sampaio I, Koiffmann CP, Silva Junior WA da, Carnaval AC, Harris EE. Molecular phylogenetic inference of the howler monkey radiation (Primates: Alouatta) [Internet]. Primates. 2021 ; 62 177-188.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10329-020-00854-x
Artigo de periodico
Two novel pathogenic variants in MED13L: one familial and one isolated case (2021)
Carvalho, L. M. L ; Costa, S. S. da; Campagnari, F; Kaufman, A; Bertola, Débora R. ; Silva, I. T. da ; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Source: Journal of Intellectual Disability Research. Unidades: FM, IB
Subjects: PESSOAS COM DEFICIÊNCIA INTELECTUAL, GENES
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ABNT
CARVALHO, L. M. L et al. Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of Intellectual Disability Research, v. 65, n. 12, p. 1049-1057, 2021Tradução . . Disponível em: https://doi.org/10.1111/jir.12891. Acesso em: 19 nov. 2024.
APA
Carvalho, L. M. L., Costa, S. S. da, Campagnari, F., Kaufman, A., Bertola, D. R., Silva, I. T. da, et al. (2021). Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of Intellectual Disability Research, 65( 12), 1049-1057. doi:10.1111/jir.12891
NLM
Carvalho LML, Costa SS da, Campagnari F, Kaufman A, Bertola DR, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case [Internet]. Journal of Intellectual Disability Research. 2021 ; 65( 12): 1049-1057.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/jir.12891
Vancouver
Carvalho LML, Costa SS da, Campagnari F, Kaufman A, Bertola DR, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case [Internet]. Journal of Intellectual Disability Research. 2021 ; 65( 12): 1049-1057.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1111/jir.12891
Artigo de periodico
A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review (2021)
Carvalho, Laura M. L; D’Angelo, Carla S; Mustacchi, Zan; Silva, Israel T. da; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Source: Obesity Research & Clinical Practice. Unidade: IB
Subjects: GENÉTICA MÉDICA, OBESIDADE, RETARDO MENTAL, MUTAÇÃO GENÉTICA
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ABNT
CARVALHO, Laura M. L et al. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, v. 15, n. 2, p. Mar./Apr. 124-132, 2021Tradução . . Disponível em: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf. Acesso em: 19 nov. 2024.
APA
Carvalho, L. M. L., D’Angelo, C. S., Mustacchi, Z., Silva, I. T. da, Krepischi, A. C. V., Koiffmann, C. P., & Rosenberg, C. (2021). A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, 15( 2), Mar./Apr. 124-132. Recuperado de https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
NLM
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2024 nov. 19 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
Vancouver
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2024 nov. 19 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
Artigo de periodico
Prader‐Willi syndrome: what is the general pediatrician supposed to do? ‐ a review (2018)
Passone, Caroline de Gouveia Buff; Pasqualucci, Paula Lage; Franco, Ruth Rocha; Ito, Simone Sakura; Mattar, Larissa Baldini Farjalla; Koiffmann, Celia Priszkulnik ; Soster, Leticia Azevedo; Carneiro, Jorge David Aivazoglou; Menezes‐Filho, Hamilton Cabral; Damiani, Durval
Source: Revista Paulista de Pediatria. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, EXPRESSÃO GÊNICA, HORMÔNIO DO CRESCIMENTO, ENDOCRINOPATIAS, COMPORTAMENTO, DIAGNÓSTICO, QUALIDADE DE VIDA
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ABNT
PASSONE, Caroline de Gouveia Buff et al. Prader‐Willi syndrome: what is the general pediatrician supposed to do? ‐ a review. Revista Paulista de Pediatria, v. 36, n. 3, p. 345-352, 2018Tradução . . Disponível em: https://doi.org/10.1590/1984-0462/;2018;36;3;00003. Acesso em: 19 nov. 2024.
APA
Passone, C. de G. B., Pasqualucci, P. L., Franco, R. R., Ito, S. S., Mattar, L. B. F., Koiffmann, C. P., et al. (2018). Prader‐Willi syndrome: what is the general pediatrician supposed to do? ‐ a review. Revista Paulista de Pediatria, 36( 3), 345-352. doi:10.1590/1984-0462/;2018;36;3;00003
NLM
Passone C de GB, Pasqualucci PL, Franco RR, Ito SS, Mattar LBF, Koiffmann CP, Soster LA, Carneiro JDA, Menezes‐Filho HC, Damiani D. Prader‐Willi syndrome: what is the general pediatrician supposed to do? ‐ a review [Internet]. Revista Paulista de Pediatria. 2018 ; 36( 3): 345-352.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/1984-0462/;2018;36;3;00003
Vancouver
Passone C de GB, Pasqualucci PL, Franco RR, Ito SS, Mattar LBF, Koiffmann CP, Soster LA, Carneiro JDA, Menezes‐Filho HC, Damiani D. Prader‐Willi syndrome: what is the general pediatrician supposed to do? ‐ a review [Internet]. Revista Paulista de Pediatria. 2018 ; 36( 3): 345-352.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1590/1984-0462/;2018;36;3;00003
Artigo de periodico
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity (2018)
D’Angelo, Carla Sustek; Varela, Monica Castro; Castro, Cláudia Irene Emílio de; Otto, Paulo A ; Perez, Ana Beatriz Alvarez; Lourenço, Charles Marques; Kim, Chong Ae; Bertola, Débora Romeo; Kok, Fernando; Garcia-Alonso, Luis; Koiffmann, Celia Priszkulnik
Source: Molecular Cytogenetics. Unidades: IB, FM
Subjects: OBESIDADE, FENÓTIPOS, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS, RETARDO MENTAL, GENÉTICA MÉDICA, GENOMAS
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ABNT
D’ANGELO, Carla Sustek et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular Cytogenetics, v. 11, n. 14, p. 1-18, 2018Tradução . . Disponível em: https://doi.org/10.1186/s13039-018-0363-7. Acesso em: 19 nov. 2024.
APA
D’Angelo, C. S., Varela, M. C., Castro, C. I. E. de, Otto, P. A., Perez, A. B. A., Lourenço, C. M., et al. (2018). Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular Cytogenetics, 11( 14), 1-18. doi:10.1186/s13039-018-0363-7
NLM
D’Angelo CS, Varela MC, Castro CIE de, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [Internet]. Molecular Cytogenetics. 2018 ; 11( 14): 1-18.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1186/s13039-018-0363-7
Vancouver
D’Angelo CS, Varela MC, Castro CIE de, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [Internet]. Molecular Cytogenetics. 2018 ; 11( 14): 1-18.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1186/s13039-018-0363-7
Artigo de periodico
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins (2017)
Jehee, Fernanda S; Oliveira, Valdirene T. de; Gurgel Giannetti, Juliana; Pietra, Rafaella X; Rubatino, Fernando V. M; Carobin, Natália V; Vianna, Gabrielle S; Freitas, Mariana L. de; Fernandes, Karla S; Ribeiro, Beatriz S. V; Brüggenwirth, Hennie T; Ali-Amin, Roza; White, Janson J; Akdemir, Zeynep C; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R; Varela, Monica C; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla ; Carvalho, Cláudia M. B
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, GENÉTICA MÉDICA, DELEÇÃO DE GENES, FENÓTIPOS, OBESIDADE, RETARDO MENTAL
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ABNT
JEHEE, Fernanda S et al. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, p. 1-5, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38315. Acesso em: 19 nov. 2024.
APA
Jehee, F. S., Oliveira, V. T. de, Gurgel Giannetti, J., Pietra, R. X., Rubatino, F. V. M., Carobin, N. V., et al. (2017). Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, 1-5. doi:10.1002/ajmg.a.38315
NLM
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/ajmg.a.38315
Vancouver
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/ajmg.a.38315
Artigo de periodico
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes (2014)
D'Angelo, Carla Sustek; Varela, Monica C; Castro, Claudia I. E. de; Kim, Chong Ae; Bertola, Débora Romeo; Lourenço, Charles Marques; Perez, Ana Beatriz A; Koiffmann, Celia Priszkulnik
Source: Molecular Cytogenetics. Unidades: IB, FM
Subjects: DELEÇÃO DE GENES, DEFICIÊNCIA MENTAL, OBESIDADE, CITOGENÉTICA MOLECULAR, GENÉTICA MÉDICA
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ABNT
D'ANGELO, Carla Sustek et al. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Molecular Cytogenetics, v. 7, n. 1, p. 1-13, 2014Tradução . . Disponível em: https://doi.org/10.1186/s13039-014-0075-6. Acesso em: 19 nov. 2024.
APA
D'Angelo, C. S., Varela, M. C., Castro, C. I. E. de, Kim, C. A., Bertola, D. R., Lourenço, C. M., et al. (2014). Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Molecular Cytogenetics, 7( 1), 1-13. doi:10.1186/s13039-014-0075-6
NLM
D'Angelo CS, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [Internet]. Molecular Cytogenetics. 2014 ; 7( 1): 1-13.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1186/s13039-014-0075-6
Vancouver
D'Angelo CS, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [Internet]. Molecular Cytogenetics. 2014 ; 7( 1): 1-13.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1186/s13039-014-0075-6
Artigo de periodico
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR (2014)
Cunha, Pricila Silva; Pena, Heloisa B; D'Angelo, Carla Sustek; Koiffmann, Celia Priszkulnik ; Rosenfeld, Jill A; Shaffer, Lisa G; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Pena, Sérgio Danilo Junho
Source: Disease Markers. Unidade: IB
Subjects: DEFICIÊNCIA MENTAL, DIAGNÓSTICO, GENOMAS, BIOLOGIA MOLECULAR, DOENÇAS GENÉTICAS
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ABNT
CUNHA, Pricila Silva et al. Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR. Disease Markers, p. 1-8, 2014Tradução . . Disponível em: https://doi.org/10.1155/2014/836082. Acesso em: 19 nov. 2024.
APA
Cunha, P. S., Pena, H. B., D'Angelo, C. S., Koiffmann, C. P., Rosenfeld, J. A., Shaffer, L. G., et al. (2014). Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR. Disease Markers, 1-8. doi:10.1155/2014/836082
NLM
Cunha PS, Pena HB, D'Angelo CS, Koiffmann CP, Rosenfeld JA, Shaffer LG, Stofanko M, Gonçalves-Dornelas H, Pena SDJ. Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR [Internet]. Disease Markers. 2014 ; 1-8.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1155/2014/836082
Vancouver
Cunha PS, Pena HB, D'Angelo CS, Koiffmann CP, Rosenfeld JA, Shaffer LG, Stofanko M, Gonçalves-Dornelas H, Pena SDJ. Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR [Internet]. Disease Markers. 2014 ; 1-8.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1155/2014/836082
Artigo de periodico
Angelman syndrome caused by deletion: a genotype—phenotype correlation determined by breakpoint (2013)
Valente, Kette D; Varela, Monica Castro; Koiffmann, Celia Priszkulnik ; Andrade, Joaquina Queiroz; Grossmann, Rosi; Kok, Fernando; Marques-Dias, Maria Joaquina
Source: Epilepsy Research. Unidades: IB, FM
Subjects: SÍNDROME DE ANGELMAN, EPILEPSIA, DELEÇÃO DE GENES, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VALENTE, Kette D et al. Angelman syndrome caused by deletion: a genotype—phenotype correlation determined by breakpoint. Epilepsy Research, v. 105, n. 1, p. 234-239, 2013Tradução . . Disponível em: https://doi.org/10.1016/j.eplepsyres.2012.12.005. Acesso em: 19 nov. 2024.
APA
Valente, K. D., Varela, M. C., Koiffmann, C. P., Andrade, J. Q., Grossmann, R., Kok, F., & Marques-Dias, M. J. (2013). Angelman syndrome caused by deletion: a genotype—phenotype correlation determined by breakpoint. Epilepsy Research, 105( 1), 234-239. doi:10.1016/j.eplepsyres.2012.12.005
NLM
Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ. Angelman syndrome caused by deletion: a genotype—phenotype correlation determined by breakpoint [Internet]. Epilepsy Research. 2013 ; 105( 1): 234-239.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.eplepsyres.2012.12.005
Vancouver
Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ. Angelman syndrome caused by deletion: a genotype—phenotype correlation determined by breakpoint [Internet]. Epilepsy Research. 2013 ; 105( 1): 234-239.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.eplepsyres.2012.12.005
Artigo de periodico
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants (2013)
D'Angelo, Carla Sustek; Kohl, Ilana; Varela, Monica Castro; Castro, Cláudia Irene Emílio de; Kim, Chong Ae; Bertola, Débora Romeo; Lourenço, Charles Marques; Perez, Ana Beatriz Alvarez; Koiffmann, Celia Priszkulnik
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: OBESIDADE, ANORMALIDADES CROMOSSÔMICAS, DEFICIÊNCIA MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
D'ANGELO, Carla Sustek et al. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. American Journal of Medical Genetics. Part A, v. 161, n. 3, p. 479-486, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35761. Acesso em: 19 nov. 2024.
APA
D'Angelo, C. S., Kohl, I., Varela, M. C., Castro, C. I. E. de, Kim, C. A., Bertola, D. R., et al. (2013). Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. American Journal of Medical Genetics. Part A, 161( 3), 479-486. doi:10.1002/ajmg.a.35761
NLM
D'Angelo CS, Kohl I, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 3): 479-486.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/ajmg.a.35761
Vancouver
D'Angelo CS, Kohl I, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 3): 479-486.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1002/ajmg.a.35761
Artigo de periodico-carta/editorial
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta] (2013)
Silva, Amanda G; Krepischi, Ana Cristina Victorino ; Torrezan, Giovana T; Capelli, Leonardo P; Carraro, Dirce M; D'Angelo, Carla S; Koiffmann, Celia Priszkulnik ; Zatz, Mayana ; Naslavsky, Michel ; Masotti, Cibele; Otto, Paulo A ; Achatz, Maria I. W; Mills, Ryan E; Lee, Charles; Pearson, Peter L; Rosenberg, Carla
Source: European Journal of Human Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, NEOPLASIAS, PROLACTINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, Amanda G et al. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]. European Journal of Human Genetics. London: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1038/ejhg.2013.134. Acesso em: 19 nov. 2024. , 2013
APA
Silva, A. G., Krepischi, A. C. V., Torrezan, G. T., Capelli, L. P., Carraro, D. M., D'Angelo, C. S., et al. (2013). Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]. European Journal of Human Genetics. London: Instituto de Biociências, Universidade de São Paulo. doi:10.1038/ejhg.2013.134
NLM
Silva AG, Krepischi ACV, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky M, Masotti C, Otto PA, Achatz MIW, Mills RE, Lee C, Pearson PL, Rosenberg C. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta] [Internet]. European Journal of Human Genetics. 2013 ; 1-3 on-line.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/ejhg.2013.134
Vancouver
Silva AG, Krepischi ACV, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky M, Masotti C, Otto PA, Achatz MIW, Mills RE, Lee C, Pearson PL, Rosenberg C. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta] [Internet]. European Journal of Human Genetics. 2013 ; 1-3 on-line.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1038/ejhg.2013.134
Artigo de periodico
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency (2012)
Capelli, Leonardo P; Krepischi, Ana Cristina Victorino ; Gurgel-Giannetti, Juliana; Mendes, Mirian Fabiola S; Rodrigues, Tatiane; Varela, Monica C; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: EPILEPSIA, GENÉTICA MÉDICA, DEFICIÊNCIA MENTAL, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CAPELLI, Leonardo P et al. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. European Journal of Medical Genetics, v. 55, n. 2, p. 132-134, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2011.10.004. Acesso em: 19 nov. 2024.
APA
Capelli, L. P., Krepischi, A. C. V., Gurgel-Giannetti, J., Mendes, M. F. S., Rodrigues, T., Varela, M. C., et al. (2012). Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. European Journal of Medical Genetics, 55( 2), 132-134. doi:10.1016/j.ejmg.2011.10.004
NLM
Capelli LP, Krepischi ACV, Gurgel-Giannetti J, Mendes MFS, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency [Internet]. European Journal of Medical Genetics. 2012 ; 55( 2): 132-134.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2011.10.004
Vancouver
Capelli LP, Krepischi ACV, Gurgel-Giannetti J, Mendes MFS, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency [Internet]. European Journal of Medical Genetics. 2012 ; 55( 2): 132-134.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2011.10.004
Artigo de periodico
Copy number variants in obesity-related Syndromes: review and perspectives on novel molecular approaches (2012)
D'Angelo, Carla Sustek; Koiffmann, Celia Priszkulnik
Source: Journal of Obesity. Unidade: IB
Subjects: OBESIDADE, GENÉTICA MÉDICA, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
D'ANGELO, Carla Sustek e KOIFFMANN, Celia Priszkulnik. Copy number variants in obesity-related Syndromes: review and perspectives on novel molecular approaches. Journal of Obesity, p. 1-15, 2012Tradução . . Disponível em: https://doi.org/10.1155/2012/845480. Acesso em: 19 nov. 2024.
APA
D'Angelo, C. S., & Koiffmann, C. P. (2012). Copy number variants in obesity-related Syndromes: review and perspectives on novel molecular approaches. Journal of Obesity, 1-15. doi:10.1155/2012/845480
NLM
D'Angelo CS, Koiffmann CP. Copy number variants in obesity-related Syndromes: review and perspectives on novel molecular approaches [Internet]. Journal of Obesity. 2012 ; 1-15.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1155/2012/845480
Vancouver
D'Angelo CS, Koiffmann CP. Copy number variants in obesity-related Syndromes: review and perspectives on novel molecular approaches [Internet]. Journal of Obesity. 2012 ; 1-15.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1155/2012/845480
Artigo de periodico
A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome (2012)
Quaio, Caio Robledo D'Angioli Costa; Almeida, Tatiana Ferreira de; Albano, Lilian Maria José; Gomy, Israel; Bertola, Débora Romeo; Varela, Monica Castro; Koiffmann, Celia Priszkulnik ; Kim, Chong Ae
Source: Clinics. Unidade: IB
Subjects: OBESIDADE, GENÉTICA, HORMÔNIO DO CRESCIMENTO (TRATAMENTO), COMPOSIÇÃO CORPORAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
QUAIO, Caio Robledo D'Angioli Costa et al. A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome. Clinics, v. 67, n. 8, p. 917-921, 2012Tradução . . Disponível em: https://doi.org/10.6061/clinics/2012(08)11. Acesso em: 19 nov. 2024.
APA
Quaio, C. R. D. 'A. C., Almeida, T. F. de, Albano, L. M. J., Gomy, I., Bertola, D. R., Varela, M. C., et al. (2012). A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome. Clinics, 67( 8), 917-921. doi:10.6061/clinics/2012(08)11
NLM
Quaio CRD'AC, Almeida TF de, Albano LMJ, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA. A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome [Internet]. Clinics. 2012 ; 67( 8): 917-921.[citado 2024 nov. 19 ] Available from: https://doi.org/10.6061/clinics/2012(08)11
Vancouver
Quaio CRD'AC, Almeida TF de, Albano LMJ, Gomy I, Bertola DR, Varela MC, Koiffmann CP, Kim CA. A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome [Internet]. Clinics. 2012 ; 67( 8): 917-921.[citado 2024 nov. 19 ] Available from: https://doi.org/10.6061/clinics/2012(08)11
Artigo de periodico
Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species, A. guariba (2011)
Martins, Felipe de Mello; Gifalli-Iughetti, Cristiani; Koiffmann, Celia Priszkulnik ; Harris, Eugene E
Source: Primates. Unidade: IB
Subjects: PRIMATAS, DNA MITOCONDRIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MARTINS, Felipe de Mello et al. Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species, A. guariba. Primates, v. 52, n. ja 2011, p. 77-87, 2011Tradução . . Disponível em: https://doi.org/10.1007/s10329-010-0226-2. Acesso em: 19 nov. 2024.
APA
Martins, F. de M., Gifalli-Iughetti, C., Koiffmann, C. P., & Harris, E. E. (2011). Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species, A. guariba. Primates, 52( ja 2011), 77-87. doi:10.1007/s10329-010-0226-2
NLM
Martins F de M, Gifalli-Iughetti C, Koiffmann CP, Harris EE. Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species, A. guariba [Internet]. Primates. 2011 ; 52( ja 2011): 77-87.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10329-010-0226-2
Vancouver
Martins F de M, Gifalli-Iughetti C, Koiffmann CP, Harris EE. Coalescent analysis of mtDNA indicates Pleistocene divergence among three species of howler monkey (Alouatta spp.) and population subdivision within the Atlantic Coastal Forest species, A. guariba [Internet]. Primates. 2011 ; 52( ja 2011): 77-87.[citado 2024 nov. 19 ] Available from: https://doi.org/10.1007/s10329-010-0226-2
Trabalho de evento-resumo
Síndrome de deleção 22q13.3: diagnóstico diferencial da síndrome de Angelman? (2010)
Sette, L Z A; D'Angelo, Carla Sustek; Varela, M C; Zanelato, R M; Koiffmann, Celia Priszkulnik
Source: Resumos. Conference titles: Congresso Brasileiro de Genética. Unidade: IB
Subjects: TRANSTORNOS DA LINGUAGEM, DIAGNÓSTICO DIFERENCIAL, SÍNDROME DE ANGELMAN, AUTISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SETTE, L Z A et al. Síndrome de deleção 22q13.3: diagnóstico diferencial da síndrome de Angelman? 2010, Anais.. Ribeirao Preto: Sociedade Brasileira de Genética (SBG), 2010. . Acesso em: 19 nov. 2024.
APA
Sette, L. Z. A., D'Angelo, C. S., Varela, M. C., Zanelato, R. M., & Koiffmann, C. P. (2010). Síndrome de deleção 22q13.3: diagnóstico diferencial da síndrome de Angelman? In Resumos. Ribeirao Preto: Sociedade Brasileira de Genética (SBG).
NLM
Sette LZA, D'Angelo CS, Varela MC, Zanelato RM, Koiffmann CP. Síndrome de deleção 22q13.3: diagnóstico diferencial da síndrome de Angelman? Resumos. 2010 ;[citado 2024 nov. 19 ]
Vancouver
Sette LZA, D'Angelo CS, Varela MC, Zanelato RM, Koiffmann CP. Síndrome de deleção 22q13.3: diagnóstico diferencial da síndrome de Angelman? Resumos. 2010 ;[citado 2024 nov. 19 ]
Trabalho de evento-resumo
Diferenciação neuronal de células-tronco derivadas de dentes deciduos de pacientes com a síndrome de Angelman (2010)
Cruvinel, E. M; Secco, M; Almeida, C A N; Zatz, Mayana ; Cassola, Antônio Carlos; Koiffmann, Celia Priszkulnik
Source: Resumos. Conference titles: Congresso Brasileiro de Genética. Unidades: IB, ICB
Subjects: SÍNDROME DE ANGELMAN, CÉLULAS-TRONCO, POLPA DENTÁRIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CRUVINEL, E. M et al. Diferenciação neuronal de células-tronco derivadas de dentes deciduos de pacientes com a síndrome de Angelman. 2010, Anais.. Ribeirao Preto: Sociedade Brasileira de Genética (SBG), 2010. . Acesso em: 19 nov. 2024.
APA
Cruvinel, E. M., Secco, M., Almeida, C. A. N., Zatz, M., Cassola, A. C., & Koiffmann, C. P. (2010). Diferenciação neuronal de células-tronco derivadas de dentes deciduos de pacientes com a síndrome de Angelman. In Resumos. Ribeirao Preto: Sociedade Brasileira de Genética (SBG).
NLM
Cruvinel EM, Secco M, Almeida CAN, Zatz M, Cassola AC, Koiffmann CP. Diferenciação neuronal de células-tronco derivadas de dentes deciduos de pacientes com a síndrome de Angelman. Resumos. 2010 ;[citado 2024 nov. 19 ]
Vancouver
Cruvinel EM, Secco M, Almeida CAN, Zatz M, Cassola AC, Koiffmann CP. Diferenciação neuronal de células-tronco derivadas de dentes deciduos de pacientes com a síndrome de Angelman. Resumos. 2010 ;[citado 2024 nov. 19 ]

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