Filtros : "Indexado no Index Medicus" "Richieri-Costa, Antonio" Removido: "FERRO, MÁRCIA REGINA" Limpar

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  • Source: Clinical Dysmorphology. Unidade: HRAC

    Subjects: FISSURA LÁBIOPALATINA, GENÉTICA

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    • ABNT

      PITTOLI, Siulan Vendramini Paulovich et al. An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases. Clinical Dysmorphology, v. 24, n. 4, p. 144-150, 2015Tradução . . Disponível em: https://doi.org/10.1097/mcd.0000000000000085. Acesso em: 12 nov. 2024.
    • APA

      Pittoli, S. V. P., Guion-Almeida, M. L., Santos, J. M., Garcia Junior, S. M., Yoshida, M. M., Richieri-Costa, A., & Nakata, N. M. K. (2015). An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases. Clinical Dysmorphology, 24( 4), 144-150. doi:10.1097/mcd.0000000000000085
    • NLM

      Pittoli SVP, Guion-Almeida ML, Santos JM, Garcia Junior SM, Yoshida MM, Richieri-Costa A, Nakata NMK. An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases [Internet]. Clinical Dysmorphology. 2015 ; 24( 4): 144-150.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1097/mcd.0000000000000085
    • Vancouver

      Pittoli SVP, Guion-Almeida ML, Santos JM, Garcia Junior SM, Yoshida MM, Richieri-Costa A, Nakata NMK. An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases [Internet]. Clinical Dysmorphology. 2015 ; 24( 4): 144-150.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1097/mcd.0000000000000085
  • Source: American Journal of Medical Genetics, Part A. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, RESSONÂNCIA MAGNÉTICA, SEQUENCIAMENTO GENÉTICO, EDUCAÇÃO INFANTIL

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    • ABNT

      RIBEIRO, Lucilene Arilho et al. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients. American Journal of Medical Genetics, Part A, v. 152A, n. 7, p. 1688-1694, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33466. Acesso em: 12 nov. 2024.
    • APA

      Ribeiro, L. A., Quiezi, R. G., Nascimento, A., Bertolacini, C. D. P., & Richieri-Costa, A. (2010). Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients. American Journal of Medical Genetics, Part A, 152A( 7), 1688-1694. doi:10.1002/ajmg.a.33466
    • NLM

      Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CDP, Richieri-Costa A. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1688-1694.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.33466
    • Vancouver

      Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CDP, Richieri-Costa A. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1688-1694.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.33466
  • Source: Clinical Dysmorphology. Unidades: FOB, HRAC

    Subjects: RETARDO MENTAL (PATOLOGIA), TRANSTORNOS DA LINGUAGEM INFANTIL, DOENÇAS HEREDITÁRIAS, DOENÇAS CEREBRAIS

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      LAMÔNICA, Dionísia Aparecida Cusin et al. Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. Clinical Dysmorphology, v. 19, n. 2, p. 76-78, 2010Tradução . . Disponível em: https://doi.org/10.1097/mcd.0b013e32833034fc. Acesso em: 12 nov. 2024.
    • APA

      Lamônica, D. A. C., Maximino, L. P., Abramides, D. V. M., Souza, D. H., & Richieri-Costa, A. (2010). Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. Clinical Dysmorphology, 19( 2), 76-78. doi:10.1097/mcd.0b013e32833034fc
    • NLM

      Lamônica DAC, Maximino LP, Abramides DVM, Souza DH, Richieri-Costa A. Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers [Internet]. Clinical Dysmorphology. 2010 ; 19( 2): 76-78.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1097/mcd.0b013e32833034fc
    • Vancouver

      Lamônica DAC, Maximino LP, Abramides DVM, Souza DH, Richieri-Costa A. Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers [Internet]. Clinical Dysmorphology. 2010 ; 19( 2): 76-78.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1097/mcd.0b013e32833034fc
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL, AGENESIA

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    • ABNT

      GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, v. 149A, n. 5, p. 1006-1011, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32717. Acesso em: 12 nov. 2024.
    • APA

      Guion-Almeida, M. L., & Richieri-Costa, A. (2009). Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, 149A( 5), 1006-1011. doi:10.1002/ajmg.a.32717
    • NLM

      Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.32717
    • Vancouver

      Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.32717
  • Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. Unidades: HRAC, FOB

    Subjects: DENTE SUPRANUMERÁRIO, DENTE (ANORMALIDADES)

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    • ABNT

      DALBEN, Gisele da Silva e RICHIERI-COSTA, Antonio e TAVEIRA, Lúis Antonio de Assis. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, v. 106, p. e46-e51, 2008Tradução . . Disponível em: https://doi.org/10.1016/j.tripleo.2008.04.019. Acesso em: 12 nov. 2024.
    • APA

      Dalben, G. da S., Richieri-Costa, A., & Taveira, L. A. de A. (2008). Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 106, e46-e51. doi:10.1016/j.tripleo.2008.04.019
    • NLM

      Dalben G da S, Richieri-Costa A, Taveira LA de A. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome [Internet]. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2008 ; 106 e46-e51.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1016/j.tripleo.2008.04.019
    • Vancouver

      Dalben G da S, Richieri-Costa A, Taveira LA de A. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome [Internet]. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2008 ; 106 e46-e51.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1016/j.tripleo.2008.04.019
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, HIPERTELORISMO

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    • ABNT

      GUION-ALMEIDA, Maria Leine e CEIDE, Roseli Maria Zechi e RICHIERI-COSTA, Antonio. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3252-3266, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32090. Acesso em: 12 nov. 2024.
    • APA

      Guion-Almeida, M. L., Ceide, R. M. Z., & Richieri-Costa, A. (2007). Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, 143A( 24), 3252-3266. doi:10.1002/ajmg.a.32090
    • NLM

      Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.32090
    • Vancouver

      Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.32090
  • Source: European Journal of Human Genetics. Unidade: HRAC

    Subjects: SÍNDROME DE GOLDENHAR, PERDA AUDITIVA NEUROSSENSORIAL, OUVIDO

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      VENDRAMINI, Siulan e RICHIERI-COSTA, Antonio e GUION-ALMEIDA, Maria Leine. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature. European Journal of Human Genetics, v. 15, n. 4, p. 411-421, 2007Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5201770. Acesso em: 12 nov. 2024.
    • APA

      Vendramini, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2007). Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature. European Journal of Human Genetics, 15( 4), 411-421. doi:10.1038/sj.ejhg.5201770
    • NLM

      Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature [Internet]. European Journal of Human Genetics. 2007 ; 15( 4): 411-421.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770
    • Vancouver

      Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature [Internet]. European Journal of Human Genetics. 2007 ; 15( 4): 411-421.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, HIPERTELORISMO, LÁBIO FISSURADO

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      GUION-ALMEIDA, Maria Leine et al. Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3273-3279, 2007Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0. Acesso em: 12 nov. 2024.
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      Guion-Almeida, M. L., Mellado, C., Beltrán, C., & Richieri-Costa, A. (2007). Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, 143A( 24), 3273-3279. Recuperado de http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
    • NLM

      Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 nov. 12 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
    • Vancouver

      Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 nov. 12 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
  • Source: Molecular and Cellular Biochemistry. Unidades: FOB, FMRP, HRAC, FORP

    Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, FENÓTIPOS

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      SANDRIN-GARCIA, Paula et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Molecular and Cellular Biochemistry, v. 303, n. 1/2, p. 9-17, 2007Tradução . . Disponível em: https://doi.org/10.1007/s11010-007-9450-5. Acesso em: 12 nov. 2024.
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      Sandrin-Garcia, P., Abramides, D. V. M., Martelli, L. R., Ramos, E. S., Richieri-Costa, A., & Passos, G. A. S. (2007). Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Molecular and Cellular Biochemistry, 303( 1/2), 9-17. doi:10.1007/s11010-007-9450-5
    • NLM

      Sandrin-Garcia P, Abramides DVM, Martelli LR, Ramos ES, Richieri-Costa A, Passos GAS. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 [Internet]. Molecular and Cellular Biochemistry. 2007 ; 303( 1/2): 9-17.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1007/s11010-007-9450-5
    • Vancouver

      Sandrin-Garcia P, Abramides DVM, Martelli LR, Ramos ES, Richieri-Costa A, Passos GAS. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 [Internet]. Molecular and Cellular Biochemistry. 2007 ; 303( 1/2): 9-17.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1007/s11010-007-9450-5
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL

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      CEIDE, Roseli Maria Zechi et al. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3295-3301, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32019. Acesso em: 12 nov. 2024.
    • APA

      Ceide, R. M. Z., Guion-Almeida, M. L., Zanchetta, S., & Richieri-Costa, A. (2007). Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, 143A( 24), 3295-3301. doi:10.1002/ajmg.a.32019
    • NLM

      Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.32019
    • Vancouver

      Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.32019
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, LÁBIO FISSURADO, ANORMALIDADES DO SISTEMA NERVOSO, ANORMALIDADES CRANIOFACIAIS, GENÉTICA APLICADA

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      GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?. American Journal of Medical Genetics. Part A, v. No 2006, n. 22, p. 2478-2481, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31518. Acesso em: 12 nov. 2024.
    • APA

      Guion-Almeida, M. L., & Richieri-Costa, A. (2006). Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? American Journal of Medical Genetics. Part A, No 2006( 22), 2478-2481. doi:10.1002/ajmg.a.31518
    • NLM

      Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.31518
    • Vancouver

      Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.31518
  • Source: American Journal of Medical Genetics Part A. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FISSURA LÁBIOPALATINA

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      RIBEIRO, Lucilene Arilho et al. SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2577-2583, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31377. Acesso em: 12 nov. 2024.
    • APA

      Ribeiro, L. A., El-Jaick, K. B., Muenke, M., & Richieri-Costa, A. (2006). SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, 140A( 23), 2577-2583. doi:10.1002/ajmg.a.31377
    • NLM

      Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.31377
    • Vancouver

      Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.a.31377

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