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Artigo de periodico
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family (2015)
Uehara, Daniela T; Freitas, Erika L; Alves, Leandro U; Mazzeu, Juliana F; Auricchio, Maria Teresa Ballester de Melo; Tabith Jr, Alfredo; Monteiro, Mário Luiz Monteiro; Rosenberg, Carla ; Mingroni Netto, Regina Celia
Source: Human Genome Variation. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, GENÉTICA MÉDICA, PERDA AUDITIVA, SURDEZ, DELEÇÃO DE GENES, DOENÇAS GENÉTICAS, DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
UEHARA, Daniela T et al. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. Human Genome Variation, v. 2, 2015Tradução . . Disponível em: https://doi.org/10.1038/hgv.2015.38. Acesso em: 14 nov. 2024.
APA
Uehara, D. T., Freitas, E. L., Alves, L. U., Mazzeu, J. F., Auricchio, M. T. B. de M., Tabith Jr, A., et al. (2015). A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. Human Genome Variation, 2. doi:10.1038/hgv.2015.38
NLM
Uehara DT, Freitas EL, Alves LU, Mazzeu JF, Auricchio MTB de M, Tabith Jr A, Monteiro MLM, Rosenberg C, Mingroni Netto RC. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family [Internet]. Human Genome Variation. 2015 ; 2[citado 2024 nov. 14 ] Available from: https://doi.org/10.1038/hgv.2015.38
Vancouver
Uehara DT, Freitas EL, Alves LU, Mazzeu JF, Auricchio MTB de M, Tabith Jr A, Monteiro MLM, Rosenberg C, Mingroni Netto RC. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family [Internet]. Human Genome Variation. 2015 ; 2[citado 2024 nov. 14 ] Available from: https://doi.org/10.1038/hgv.2015.38
Artigo de periodico
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss (2014)
Freitas, Erika L; Oiticica, Jeanne; Silva, Amanda G; Bittar, Roseli Saraiva Moreira; Rosenberg, Carla ; Mingroni Netto, Regina Celia
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: PERDA AUDITIVA HEREDITÁRIA, GENÉTICA MÉDICA, PERDA AUDITIVA NEUROSSENSORIAL, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Erika L et al. Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss. European Journal of Medical Genetics, v. 57, n. 4, p. 125-128, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2014.02.006. Acesso em: 14 nov. 2024.
APA
Freitas, E. L., Oiticica, J., Silva, A. G., Bittar, R. S. M., Rosenberg, C., & Mingroni Netto, R. C. (2014). Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss. European Journal of Medical Genetics, 57( 4), 125-128. doi:10.1016/j.ejmg.2014.02.006
NLM
Freitas EL, Oiticica J, Silva AG, Bittar RSM, Rosenberg C, Mingroni Netto RC. Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss [Internet]. European Journal of Medical Genetics. 2014 ; 57( 4): 125-128.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.ejmg.2014.02.006
Vancouver
Freitas EL, Oiticica J, Silva AG, Bittar RSM, Rosenberg C, Mingroni Netto RC. Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss [Internet]. European Journal of Medical Genetics. 2014 ; 57( 4): 125-128.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.ejmg.2014.02.006
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
Artigo de periodico
A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state (2012)
Freitas, Erika L; Gribble, Susan M; Simioni, Milena; Vieira, Tarsis Paiva ; Prigmore, Elena; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Pearson, Peter L; Melo, Débora G; Lopes, Vera Lúcia Gil-da-Silva
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, MALFORMAÇÕES, ANOMALIA CRANIOFACIAL, ACONSELHAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Erika L et al. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics, v. No 2012, n. 11, p. 660-665, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2012.06.015. Acesso em: 14 nov. 2024.
APA
Freitas, E. L., Gribble, S. M., Simioni, M., Vieira, T. P., Prigmore, E., Krepischi, A. C. V., et al. (2012). A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. European Journal of Medical Genetics, No 2012( 11), 660-665. doi:10.1016/j.ejmg.2012.06.015
NLM
Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi ACV, Rosenberg C, Pearson PL, Melo DG, Lopes VLG-da-S. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state [Internet]. European Journal of Medical Genetics. 2012 ; No 2012( 11): 660-665.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.ejmg.2012.06.015
Vancouver
Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi ACV, Rosenberg C, Pearson PL, Melo DG, Lopes VLG-da-S. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state [Internet]. European Journal of Medical Genetics. 2012 ; No 2012( 11): 660-665.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1016/j.ejmg.2012.06.015
Artigo de periodico
Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization (2011)
Freitas, Erika L; Gribble, Susan M.; Simioni, Milena; Vieira, Tarsis Paiva ; Silva-Grecco, Roseane L; Balarin, Marly A. S; Prigmore, Elena; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Szuhai, Karoly; Haeringen Arie van; Carter, Nigel P; Gil-da-Silva-Lopes, Vera Lúcia
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, ANOMALIA DENTÁRIA, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Erika L et al. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics Part A, v. No 2011, n. 11, p. 2754-2761, 2011Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.34168. Acesso em: 14 nov. 2024.
APA
Freitas, E. L., Gribble, S. M., Simioni, M., Vieira, T. P., Silva-Grecco, R. L., Balarin, M. A. S., et al. (2011). Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. American Journal of Medical Genetics Part A, No 2011( 11), 2754-2761. doi:10.1002/ajmg.a.34168
NLM
Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi ACV, Rosenberg C, Szuhai K, Haeringen Arie van, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization [Internet]. American Journal of Medical Genetics Part A. 2011 ; No 2011( 11): 2754-2761.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1002/ajmg.a.34168
Vancouver
Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi ACV, Rosenberg C, Szuhai K, Haeringen Arie van, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization [Internet]. American Journal of Medical Genetics Part A. 2011 ; No 2011( 11): 2754-2761.[citado 2024 nov. 14 ] Available from: https://doi.org/10.1002/ajmg.a.34168

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