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Filtros : "Clinical Genetics" Removido: "FM" Limpar

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1 - 17 (17 records)

  • Artigo de periodico

    EDA mutation by exome sequencing in non-syndromic X-linked oligodontia (2017)

    Martins, L; Machado, R. A; Araujo, D. S; Giovani, P. A; Rebouças, P. D; Rodrigues, L. P; Mofatto, L. S; Ribeiro, M. M; Coutinho, Luiz Lehmann; Puppin-Rontani, R. M; Coletta, R. D; Nociti Junior, F. H; Kantovitz, K. R

    Source: Clinical Genetics. Unidade: ESALQ

    Subjects: ANOMALIA DENTÁRIA, MAPEAMENTO GENÉTICO, MUTAÇÃO GENÉTICA

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    • ABNT

      MARTINS, L et al. EDA mutation by exome sequencing in non-syndromic X-linked oligodontia. Clinical Genetics, v. 92, n. 2, p. 227-229, 2017Tradução . . Disponível em: https://doi.org/10.1111/cge.12961. Acesso em: 20 out. 2025.

    • APA

      Martins, L., Machado, R. A., Araujo, D. S., Giovani, P. A., Rebouças, P. D., Rodrigues, L. P., et al. (2017). EDA mutation by exome sequencing in non-syndromic X-linked oligodontia. Clinical Genetics, 92( 2), 227-229. doi:10.1111/cge.12961

    • NLM

      Martins L, Machado RA, Araujo DS, Giovani PA, Rebouças PD, Rodrigues LP, Mofatto LS, Ribeiro MM, Coutinho LL, Puppin-Rontani RM, Coletta RD, Nociti Junior FH, Kantovitz KR. EDA mutation by exome sequencing in non-syndromic X-linked oligodontia [Internet]. Clinical Genetics. 2017 ; 92( 2): 227-229.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12961

    • Vancouver

      Martins L, Machado RA, Araujo DS, Giovani PA, Rebouças PD, Rodrigues LP, Mofatto LS, Ribeiro MM, Coutinho LL, Puppin-Rontani RM, Coletta RD, Nociti Junior FH, Kantovitz KR. EDA mutation by exome sequencing in non-syndromic X-linked oligodontia [Internet]. Clinical Genetics. 2017 ; 92( 2): 227-229.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12961

  • Artigo de periodico

    A review of craniofacial disorders caused by spliceosomal defects (2015)

    Lehallea, D.; Wieczorek, D.; Zechi-Ceide, Roseli Maria; Passos-Bueno, Maria Rita ; Lyonnet, S.; Amie, J.; Gordon, C.T.

    Source: Clinical Genetics. Unidades: HRAC, IB

    Subjects: ANOMALIA CRANIOFACIAL, MALFORMAÇÕES

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    • ABNT

      LEHALLEA, D. et al. A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1111/cge.12596. Acesso em: 20 out. 2025.

    • APA

      Lehallea, D., Wieczorek, D., Zechi-Ceide, R. M., Passos-Bueno, M. R., Lyonnet, S., Amie, J., & Gordon, C. T. (2015). A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, on-line. doi:10.1111/cge.12596

    • NLM

      Lehallea D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amie J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects [Internet]. Clinical Genetics. 2015 ; on-line.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12596

    • Vancouver

      Lehallea D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amie J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects [Internet]. Clinical Genetics. 2015 ; on-line.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12596

  • Artigo de periodico

    Genomic copy number alterations in non-syndromic hearing loss (2015)

    Rosenberg, Carla ; Freitas, E L; Uehara, D. T; Auricchio, M T B M; Costa, S. S; Oiticica, J; Silva, A G; Krepischi, Ana Cristina Victorino ; Mingroni Netto, Regina Celia

    Source: Clinical Genetics. Unidade: IB

    Subjects: PERDA AUDITIVA, SURDEZ, GENES, GENÉTICA MÉDICA

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    • ABNT

      ROSENBERG, Carla et al. Genomic copy number alterations in non-syndromic hearing loss. Clinical Genetics, v. 89, n. 4, p. 473-477, 2015Tradução . . Disponível em: https://doi.org/10.1111/cge.12683. Acesso em: 20 out. 2025.

    • APA

      Rosenberg, C., Freitas, E. L., Uehara, D. T., Auricchio, M. T. B. M., Costa, S. S., Oiticica, J., et al. (2015). Genomic copy number alterations in non-syndromic hearing loss. Clinical Genetics, 89( 4), 473-477. doi:10.1111/cge.12683

    • NLM

      Rosenberg C, Freitas EL, Uehara DT, Auricchio MTBM, Costa SS, Oiticica J, Silva AG, Krepischi ACV, Mingroni Netto RC. Genomic copy number alterations in non-syndromic hearing loss [Internet]. Clinical Genetics. 2015 ; 89( 4): 473-477.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12683

    • Vancouver

      Rosenberg C, Freitas EL, Uehara DT, Auricchio MTBM, Costa SS, Oiticica J, Silva AG, Krepischi ACV, Mingroni Netto RC. Genomic copy number alterations in non-syndromic hearing loss [Internet]. Clinical Genetics. 2015 ; 89( 4): 473-477.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12683

  • Artigo de periodico

    Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil (2014)

    Chaves, R. G.; Pereira, Lygia da Veiga ; Araújo, F. T. de; Rozenberg, R; Carvalho, M D F; Coelho, J. C; Michelin-Tirelli, K.; Chaves, M. de Freitas; Cavalcanti Jr., G. B.

    Source: Clinical Genetics. Unidade: IB

    Subjects: MUTAÇÃO GENÉTICA, DOENÇAS GENÉTICAS, ENZIMAS

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    • ABNT

      CHAVES, R. G. et al. Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil. Clinical Genetics, v. No 2014, p. 1-5, 2014Tradução . . Disponível em: https://doi.org/10.1111/cge.12515. Acesso em: 20 out. 2025.

    • APA

      Chaves, R. G., Pereira, L. da V., Araújo, F. T. de, Rozenberg, R., Carvalho, M. D. F., Coelho, J. C., et al. (2014). Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil. Clinical Genetics, No 2014, 1-5. doi:10.1111/cge.12515

    • NLM

      Chaves RG, Pereira L da V, Araújo FT de, Rozenberg R, Carvalho MDF, Coelho JC, Michelin-Tirelli K, Chaves M de F, Cavalcanti Jr. GB. Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil [Internet]. Clinical Genetics. 2014 ; No 2014 1-5.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12515

    • Vancouver

      Chaves RG, Pereira L da V, Araújo FT de, Rozenberg R, Carvalho MDF, Coelho JC, Michelin-Tirelli K, Chaves M de F, Cavalcanti Jr. GB. Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil [Internet]. Clinical Genetics. 2014 ; No 2014 1-5.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/cge.12515

  • Artigo de periodico

    PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl (2013)

    Fonseca, Ana Carolina dos Santos; Bonaldi, Adrianao; Costa, Silvia Souza da; Freitas, M. r; Kok, Fernando; Vianna-Morgante, Angela M

    Source: Clinical Genetics. Unidade: IB

    Subjects: GENÉTICA, DOENÇAS, SISTEMA NERVOSO CENTRAL

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    • ABNT

      FONSECA, Ana Carolina dos Santos et al. PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, v. 83, n. 2, p. 169-174, 2013Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.2012.01854.x. Acesso em: 20 out. 2025.

    • APA

      Fonseca, A. C. dos S., Bonaldi, A., Costa, S. S. da, Freitas, M. r, Kok, F., & Vianna-Morgante, A. M. (2013). PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, 83( 2), 169-174. doi:10.1111/j.1399-0004.2012.01854.x

    • NLM

      Fonseca AC dos S, Bonaldi A, Costa SS da, Freitas M r, Kok F, Vianna-Morgante AM. PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl [Internet]. Clinical Genetics. 2013 ; 83( 2): 169-174.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2012.01854.x

    • Vancouver

      Fonseca AC dos S, Bonaldi A, Costa SS da, Freitas M r, Kok F, Vianna-Morgante AM. PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl [Internet]. Clinical Genetics. 2013 ; 83( 2): 169-174.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2012.01854.x

  • Artigo de periodico

    Clinical findings in patients with GLI2 mutations: phenotypic variability (2012)

    Bertolacini, Claudia Danielli Pereira; Ribeiro-Bicudo, Lucilene Arilho ; Petrin, A.; Richieri-Costa, Antonio ; Murray, Jeffrey C

    Source: Clinical Genetics. Unidade: HRAC

    Subjects: HOLOPROSENCEFALIA, ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO

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      BERTOLACINI, Claudia Danielli Pereira et al. Clinical findings in patients with GLI2 mutations: phenotypic variability. Clinical Genetics, v. 81, n. Ja 2012, p. 70-75, 2012Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.2010.01606.x. Acesso em: 20 out. 2025.

    • APA

      Bertolacini, C. D. P., Ribeiro-Bicudo, L. A., Petrin, A., Richieri-Costa, A., & Murray, J. C. (2012). Clinical findings in patients with GLI2 mutations: phenotypic variability. Clinical Genetics, 81( Ja 2012), 70-75. doi:10.1111/j.1399-0004.2010.01606.x

    • NLM

      Bertolacini CDP, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Clinical findings in patients with GLI2 mutations: phenotypic variability [Internet]. Clinical Genetics. 2012 ; 81( Ja 2012): 70-75.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2010.01606.x

    • Vancouver

      Bertolacini CDP, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC. Clinical findings in patients with GLI2 mutations: phenotypic variability [Internet]. Clinical Genetics. 2012 ; 81( Ja 2012): 70-75.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2010.01606.x

  • 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

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    • 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: 20 out. 2025.

    • 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 2025 out. 20 ] 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 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01355.x

  • Artigo de periodico

    The p.P56S mutation in the VAPB gene is not due to a single founder: first European case. [Letter to the editor] (2010)

    Funke, A. D.; Esser, M.; Krüttgen, A.; Weis, J.; Mitne Neto, Miguel; Lazar, M.; Nishimura, A. L.; Sperfela, A. D.; Trillenberg, P.; Senderek, Jan; Krasnianski, M.; Zatz, Mayana ; Zierz, S.; Deschauer, M.

    Source: Clinical Genetics. Unidade: IB

    Assunto: MUTAÇÃO GENÉTICA

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    • ABNT

      FUNKE, A. D. et al. The p.P56S mutation in the VAPB gene is not due to a single founder: first European case. [Letter to the editor]. Clinical Genetics, v. 77, n. 3, p. 302-303, 2010Tradução . . Acesso em: 20 out. 2025.

    • APA

      Funke, A. D., Esser, M., Krüttgen, A., Weis, J., Mitne Neto, M., Lazar, M., et al. (2010). The p.P56S mutation in the VAPB gene is not due to a single founder: first European case. [Letter to the editor]. Clinical Genetics, 77( 3), 302-303.

    • NLM

      Funke AD, Esser M, Krüttgen A, Weis J, Mitne Neto M, Lazar M, Nishimura AL, Sperfela AD, Trillenberg P, Senderek J, Krasnianski M, Zatz M, Zierz S, Deschauer M. The p.P56S mutation in the VAPB gene is not due to a single founder: first European case. [Letter to the editor]. Clinical Genetics. 2010 ; 77( 3): 302-303.[citado 2025 out. 20 ]

    • Vancouver

      Funke AD, Esser M, Krüttgen A, Weis J, Mitne Neto M, Lazar M, Nishimura AL, Sperfela AD, Trillenberg P, Senderek J, Krasnianski M, Zatz M, Zierz S, Deschauer M. The p.P56S mutation in the VAPB gene is not due to a single founder: first European case. [Letter to the editor]. Clinical Genetics. 2010 ; 77( 3): 302-303.[citado 2025 out. 20 ]

  • 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

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    • 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: 20 out. 2025.

    • 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 2025 out. 20 ] 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 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2009.01276.x

  • Artigo de periodico

    A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21 (2009)

    Lezirovitz, Karina; Braga, M. C. C.; Thiele-Aguiar, Renata Soares; Auricchio, Maria Teresa Ballester de Melo; Pearson, Peter Lees; Otto, Paulo A ; Mingroni Netto, Regina Celia

    Source: Clinical Genetics. Unidade: IB

    Subjects: MUTAÇÃO GENÉTICA, DOENÇAS HEREDITÁRIAS

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    • ABNT

      LEZIROVITZ, Karina et al. A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Clinical Genetics, v. 75, n. 5, p. 490-493, 2009Tradução . . Acesso em: 20 out. 2025.

    • APA

      Lezirovitz, K., Braga, M. C. C., Thiele-Aguiar, R. S., Auricchio, M. T. B. de M., Pearson, P. L., Otto, P. A., & Mingroni Netto, R. C. (2009). A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Clinical Genetics, 75( 5), 490-493.

    • NLM

      Lezirovitz K, Braga MCC, Thiele-Aguiar RS, Auricchio MTB de M, Pearson PL, Otto PA, Mingroni Netto RC. A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Clinical Genetics. 2009 ; 75( 5): 490-493.[citado 2025 out. 20 ]

    • Vancouver

      Lezirovitz K, Braga MCC, Thiele-Aguiar RS, Auricchio MTB de M, Pearson PL, Otto PA, Mingroni Netto RC. A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Clinical Genetics. 2009 ; 75( 5): 490-493.[citado 2025 out. 20 ]

  • Artigo de periodico

    Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly (2005)

    Jehee, Fernanda Sarquis; Johnson, D.; Alonso, L. G. (UNIFESP-EPM - Centro de Genética Médica, Departamento de Morfologia e Pediatrai, São Paulo, Brasil); Cavalcanti, D P; Sá Moreira, E. de; Alberto, Fernando Lopes; Kok, Fernando; Kim, C.; Wall, S. A.; Jabs, Ethylin Wang; Boyadjiev, S. A.; Wilkie, A. O. M. (Weatheral Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK); Passos-Bueno, Maria Rita

    Source: Clinical Genetics. Unidade: IB

    Subjects: CRANIOSSINOSTOSE, ANOMALIA CRANIOFACIAL

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    • ABNT

      JEHEE, Fernanda Sarquis et al. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clinical Genetics, v. 67, n. 6, p. 503-510, 2005Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.2005.00438.x. Acesso em: 20 out. 2025.

    • APA

      Jehee, F. S., Johnson, D., Cavalcanti, D. P., Sá Moreira, E. de, Alberto, F. L., Kok, F., et al. (2005). Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clinical Genetics, 67( 6), 503-510. doi:10.1111/j.1399-0004.2005.00438.x

    • NLM

      Jehee FS, Johnson D, Cavalcanti DP, Sá Moreira E de, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly [Internet]. Clinical Genetics. 2005 ; 67( 6): 503-510.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2005.00438.x

    • Vancouver

      Jehee FS, Johnson D, Cavalcanti DP, Sá Moreira E de, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly [Internet]. Clinical Genetics. 2005 ; 67( 6): 503-510.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.2005.00438.x

  • Artigo de periodico

    Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family (2003)

    Schwartz, I.; Silva, L. R.; Leistner, S.; Todeschini, L. A.; Burin, M. G.; Pina-Neto, J. M.; Islam, R. M.; Shah, G. N.; Sly, W. S.; Giugliani, R.

    Source: Clinical Genetics. Unidade: FMRP

    Assunto: GENÉTICA MÉDICA

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    • ABNT

      SCHWARTZ, I. et al. Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. Clinical Genetics, v. 64, n. 2, p. 172-175, 2003Tradução . . Disponível em: https://doi.org/10.1034/j.1399-0004.2003.00119.x. Acesso em: 20 out. 2025.

    • APA

      Schwartz, I., Silva, L. R., Leistner, S., Todeschini, L. A., Burin, M. G., Pina-Neto, J. M., et al. (2003). Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. Clinical Genetics, 64( 2), 172-175. doi:10.1034/j.1399-0004.2003.00119.x

    • NLM

      Schwartz I, Silva LR, Leistner S, Todeschini LA, Burin MG, Pina-Neto JM, Islam RM, Shah GN, Sly WS, Giugliani R. Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family [Internet]. Clinical Genetics. 2003 ; 64( 2): 172-175.[citado 2025 out. 20 ] Available from: https://doi.org/10.1034/j.1399-0004.2003.00119.x

    • Vancouver

      Schwartz I, Silva LR, Leistner S, Todeschini LA, Burin MG, Pina-Neto JM, Islam RM, Shah GN, Sly WS, Giugliani R. Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family [Internet]. Clinical Genetics. 2003 ; 64( 2): 172-175.[citado 2025 out. 20 ] Available from: https://doi.org/10.1034/j.1399-0004.2003.00119.x

  • Artigo de periodico

    A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction (2000)

    Fridman, Cintia; Santos, Mara; Ferrari, Íris; Koiffmann, Celia Priszkulnik

    Source: Clinical Genetics. Unidades: IB, FMRP

    Assunto: SÍNDROME DE ANGELMAN

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    • ABNT

      FRIDMAN, Cintia et al. A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. Clinical Genetics, v. 57, p. 86-87, 2000Tradução . . Disponível em: https://doi.org/10.1034/j.1399-0004.2000.570114.x. Acesso em: 20 out. 2025.

    • APA

      Fridman, C., Santos, M., Ferrari, Í., & Koiffmann, C. P. (2000). A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. Clinical Genetics, 57, 86-87. doi:10.1034/j.1399-0004.2000.570114.x

    • NLM

      Fridman C, Santos M, Ferrari Í, Koiffmann CP. A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction [Internet]. Clinical Genetics. 2000 ; 57 86-87.[citado 2025 out. 20 ] Available from: https://doi.org/10.1034/j.1399-0004.2000.570114.x

    • Vancouver

      Fridman C, Santos M, Ferrari Í, Koiffmann CP. A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction [Internet]. Clinical Genetics. 2000 ; 57 86-87.[citado 2025 out. 20 ] Available from: https://doi.org/10.1034/j.1399-0004.2000.570114.x

  • Artigo de periodico

    Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q (1998)

    Fridman, Cintia; Varela, Monica Castro; Nicholls, Robert D.; Koiffmann, Celia Priszkulnik

    Source: Clinical Genetics. Unidade: IB

    Assunto: SÍNDROME DE ANGELMAN

    Acesso à fonteDOIHow to cite
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    • ABNT

      FRIDMAN, Cintia et al. Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q. Clinical Genetics, v. 54, n. 4, p. 303-308, 1998Tradução . . Disponível em: https://doi.org/10.1034/j.1399-0004.1998.5440407.x. Acesso em: 20 out. 2025.

    • APA

      Fridman, C., Varela, M. C., Nicholls, R. D., & Koiffmann, C. P. (1998). Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q. Clinical Genetics, 54( 4), 303-308. doi:10.1034/j.1399-0004.1998.5440407.x

    • NLM

      Fridman C, Varela MC, Nicholls RD, Koiffmann CP. Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q [Internet]. Clinical Genetics. 1998 ; 54( 4): 303-308.[citado 2025 out. 20 ] Available from: https://doi.org/10.1034/j.1399-0004.1998.5440407.x

    • Vancouver

      Fridman C, Varela MC, Nicholls RD, Koiffmann CP. Unusual clinical features in an Angleman syndrome patient with uniparental disomy due to a translocation 15q15q [Internet]. Clinical Genetics. 1998 ; 54( 4): 303-308.[citado 2025 out. 20 ] Available from: https://doi.org/10.1034/j.1399-0004.1998.5440407.x

  • Artigo de periodico

    Ohdo syndrome: report on a brazilian girl with additional findings (1997)

    Lopes, Vera Lúcia Gil da Silva; Guion-Almeida, Maria Leine

    Source: Clinical Genetics. Unidade: HRAC

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
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    • ABNT

      LOPES, Vera Lúcia Gil da Silva e GUION-ALMEIDA, Maria Leine. Ohdo syndrome: report on a brazilian girl with additional findings. Clinical Genetics, v. 51, n. 4, p. 268-270, 1997Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.1997.tb02468.x. Acesso em: 20 out. 2025.

    • APA

      Lopes, V. L. G. da S., & Guion-Almeida, M. L. (1997). Ohdo syndrome: report on a brazilian girl with additional findings. Clinical Genetics, 51( 4), 268-270. doi:10.1111/j.1399-0004.1997.tb02468.x

    • NLM

      Lopes VLG da S, Guion-Almeida ML. Ohdo syndrome: report on a brazilian girl with additional findings [Internet]. Clinical Genetics. 1997 ;51( 4): 268-270.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.1997.tb02468.x

    • Vancouver

      Lopes VLG da S, Guion-Almeida ML. Ohdo syndrome: report on a brazilian girl with additional findings [Internet]. Clinical Genetics. 1997 ;51( 4): 268-270.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.1997.tb02468.x

  • Artigo de periodico

    Deletion of the short arm of chromosome 20 (1987)

    Vianna-Morgante, Angela M ; Richieri-Costa, A; Rosenberg, Carla

    Source: Clinical Genetics. Unidades: IB, HRAC

    Subjects: DELEÇÃO DE GENES, ANORMALIDADES MÚLTIPLAS

    Acesso à fonteDOIHow to cite
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    • ABNT

      VIANNA-MORGANTE, Angela M e RICHIERI-COSTA, A e ROSENBERG, Carla. Deletion of the short arm of chromosome 20. Clinical Genetics, v. 31, n. ju 1987, p. 406-9, 1987Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.1987.tb02833.x. Acesso em: 20 out. 2025.

    • APA

      Vianna-Morgante, A. M., Richieri-Costa, A., & Rosenberg, C. (1987). Deletion of the short arm of chromosome 20. Clinical Genetics, 31( ju 1987), 406-9. doi:10.1111/j.1399-0004.1987.tb02833.x

    • NLM

      Vianna-Morgante AM, Richieri-Costa A, Rosenberg C. Deletion of the short arm of chromosome 20 [Internet]. Clinical Genetics. 1987 ;31( ju 1987): 406-9.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.1987.tb02833.x

    • Vancouver

      Vianna-Morgante AM, Richieri-Costa A, Rosenberg C. Deletion of the short arm of chromosome 20 [Internet]. Clinical Genetics. 1987 ;31( ju 1987): 406-9.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.1987.tb02833.x

  • Artigo de periodico

    Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the tricho-odonto-onychial subgroup (1986)

    Pinheiro, M; Freire-Maia, D V; Miranda, E; Silva Filho, O G; Freire-Maia, N

    Source: Clinical Genetics. Unidade: HRAC

    Subjects: ANODONTIA, DISPLASIA ECTODÉRMICA, ANOMALIA DENTÁRIA

    Acesso à fonteDOIHow to cite
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    • ABNT

      PINHEIRO, M et al. Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the tricho-odonto-onychial subgroup. Clinical Genetics, v. 29, p. 332-6, 1986Tradução . . Disponível em: https://doi.org/10.1111/j.1399-0004.1986.tb01263.x. Acesso em: 20 out. 2025.

    • APA

      Pinheiro, M., Freire-Maia, D. V., Miranda, E., Silva Filho, O. G., & Freire-Maia, N. (1986). Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the tricho-odonto-onychial subgroup. Clinical Genetics, 29, 332-6. doi:10.1111/j.1399-0004.1986.tb01263.x

    • NLM

      Pinheiro M, Freire-Maia DV, Miranda E, Silva Filho OG, Freire-Maia N. Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the tricho-odonto-onychial subgroup [Internet]. Clinical Genetics. 1986 ;29 332-6.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.1986.tb01263.x

    • Vancouver

      Pinheiro M, Freire-Maia DV, Miranda E, Silva Filho OG, Freire-Maia N. Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the tricho-odonto-onychial subgroup [Internet]. Clinical Genetics. 1986 ;29 332-6.[citado 2025 out. 20 ] Available from: https://doi.org/10.1111/j.1399-0004.1986.tb01263.x
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