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Artigo de periodico
Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features (2015)
Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel ; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Kim, Chong
Source: American Journal of Medical Genetics. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
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ABNT
CARVALHO, Ellaine et al. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, p. on-line., 2015Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36789. Acesso em: 28 nov. 2025.
APA
Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., et al. (2015). Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, on-line. doi:10.1002/ajmg.a.36789
NLM
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.36789
Vancouver
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.36789
Artigo de periodico-carta/editorial
Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia (2005)
Vitto, Luciana Paula Maximino de; Abramides, Dagma Venturini Marques; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: FOB
Subjects: GENÉTICA MÉDICA, RETARDO MENTAL, CONTROLE MOTOR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VITTO, Luciana Paula Maximino de e ABRAMIDES, Dagma Venturini Marques e RICHIERI-COSTA, Antonio. Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia. American Journal of Medical Genetics. New York: Faculdade de Odontologia de Bauru, Universidade de São Paulo. Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART. Acesso em: 28 nov. 2025. , 2005
APA
Vitto, L. P. M. de, Abramides, D. V. M., & Richieri-Costa, A. (2005). Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia. American Journal of Medical Genetics. New York: Faculdade de Odontologia de Bauru, Universidade de São Paulo. Recuperado de http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
NLM
Vitto LPM de, Abramides DVM, Richieri-Costa A. Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia [Internet]. American Journal of Medical Genetics. 2005 ; 136A( 2): 219-220.[citado 2025 nov. 28 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
Vancouver
Vitto LPM de, Abramides DVM, Richieri-Costa A. Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia [Internet]. American Journal of Medical Genetics. 2005 ; 136A( 2): 219-220.[citado 2025 nov. 28 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
Artigo de periodico-carta/editorial
TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype [Carta] (2004)
Bartmann, Ana Karina; Ramos, Ester Silveira; Caetano, Lisandra C.; Rios, Álvaro Fabrício Lopes; Vila, Reginaldo A.
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: GENÉTICA MÉDICA
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ABNT
BARTMANN, Ana Karina et al. TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype [Carta]. American Journal of Medical Genetics. Hoboken: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 28 nov. 2025. , 2004
APA
Bartmann, A. K., Ramos, E. S., Caetano, L. C., Rios, Á. F. L., & Vila, R. A. (2004). TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype [Carta]. American Journal of Medical Genetics. Hoboken: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Bartmann AK, Ramos ES, Caetano LC, Rios ÁFL, Vila RA. TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype [Carta]. American Journal of Medical Genetics. 2004 ; 130A 320-321.[citado 2025 nov. 28 ]
Vancouver
Bartmann AK, Ramos ES, Caetano LC, Rios ÁFL, Vila RA. TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype [Carta]. American Journal of Medical Genetics. 2004 ; 130A 320-321.[citado 2025 nov. 28 ]
Artigo de periodico-carta/editorial
Blepharo-Cheilo-Dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes [Carta] (2004)
Martinhago, Ciro Dresch; Ramos, Ester Silveira
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: GENÉTICA MÉDICA
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ABNT
MARTINHAGO, Ciro Dresch e RAMOS, Ester Silveira. Blepharo-Cheilo-Dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes [Carta]. American Journal of Medical Genetics. Hoboken: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 28 nov. 2025. , 2004
APA
Martinhago, C. D., & Ramos, E. S. (2004). Blepharo-Cheilo-Dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes [Carta]. American Journal of Medical Genetics. Hoboken: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Martinhago CD, Ramos ES. Blepharo-Cheilo-Dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes [Carta]. American Journal of Medical Genetics. 2004 ; 130A 437-438.[citado 2025 nov. 28 ]
Vancouver
Martinhago CD, Ramos ES. Blepharo-Cheilo-Dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes [Carta]. American Journal of Medical Genetics. 2004 ; 130A 437-438.[citado 2025 nov. 28 ]
Artigo de periodico
Expression of class 'mü' Glutathione-S-Transferase in human liver and its association with hepatopathies (2003)
Engracia, V.; Leite, M. M. B. S.; Pagotto, Rubiani de Cassia; Zucoloto, Sérgio; Barbosa, C. A. A.; Mestriner, Moacyr Antonio
Source: American Journal of Medical Genetics. Unidade: FMRP
Subjects: HEPATOPATIAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ENGRACIA, V. et al. Expression of class 'mü' Glutathione-S-Transferase in human liver and its association with hepatopathies. American Journal of Medical Genetics, n. 123A, p. 257-260, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.20364. Acesso em: 28 nov. 2025.
APA
Engracia, V., Leite, M. M. B. S., Pagotto, R. de C., Zucoloto, S., Barbosa, C. A. A., & Mestriner, M. A. (2003). Expression of class 'mü' Glutathione-S-Transferase in human liver and its association with hepatopathies. American Journal of Medical Genetics, ( 123A), 257-260. doi:10.1002/ajmg.a.20364
NLM
Engracia V, Leite MMBS, Pagotto R de C, Zucoloto S, Barbosa CAA, Mestriner MA. Expression of class 'mü' Glutathione-S-Transferase in human liver and its association with hepatopathies [Internet]. American Journal of Medical Genetics. 2003 ;( 123A): 257-260.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.20364
Vancouver
Engracia V, Leite MMBS, Pagotto R de C, Zucoloto S, Barbosa CAA, Mestriner MA. Expression of class 'mü' Glutathione-S-Transferase in human liver and its association with hepatopathies [Internet]. American Journal of Medical Genetics. 2003 ;( 123A): 257-260.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.20364
Artigo de periodico
Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9 (2003)
Krepischi, Ana Cristina Victorino ; Vianna-Morgante, Angela M
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: CROMOSSOMOS HUMANOS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KREPISCHI, Ana Cristina Victorino e VIANNA-MORGANTE, Angela M. Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. American Journal of Medical Genetics, v. 117A, n. 1, p. 41-46, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10634. Acesso em: 28 nov. 2025.
APA
Krepischi, A. C. V., & Vianna-Morgante, A. M. (2003). Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. American Journal of Medical Genetics, 117A( 1), 41-46. doi:10.1002/ajmg.a.10634
NLM
Krepischi ACV, Vianna-Morgante AM. Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9 [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 1): 41-46.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.10634
Vancouver
Krepischi ACV, Vianna-Morgante AM. Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9 [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 1): 41-46.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.10634
Artigo de periodico
Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation (2003)
Piram, Adriana; Ortolan, Daniela; Peres, Luiz César; Pina Neto, João Monteiro de; Riegel, Mariluce; Schinzel, Albert
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PIRAM, Adriana et al. Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. American Journal of Medical Genetics, v. 120A, p. 247-252, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10004. Acesso em: 28 nov. 2025.
APA
Piram, A., Ortolan, D., Peres, L. C., Pina Neto, J. M. de, Riegel, M., & Schinzel, A. (2003). Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. American Journal of Medical Genetics, 120A, 247-252. doi:10.1002/ajmg.a.10004
NLM
Piram A, Ortolan D, Peres LC, Pina Neto JM de, Riegel M, Schinzel A. Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation [Internet]. American Journal of Medical Genetics. 2003 ; 120A 247-252.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.10004
Vancouver
Piram A, Ortolan D, Peres LC, Pina Neto JM de, Riegel M, Schinzel A. Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation [Internet]. American Journal of Medical Genetics. 2003 ; 120A 247-252.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.a.10004
Artigo de periodico
Further evidence for a fourth gene causing X-linked pure spastic paraplegia (2002)
Starling, A.; Rocco, P.; Cambi, F.; Hobson, G. M.; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS HEREDITÁRIAS
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ABNT
STARLING, A. et al. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, v. 111, p. 152-156, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10551. Acesso em: 28 nov. 2025.
APA
Starling, A., Rocco, P., Cambi, F., Hobson, G. M., Passos-Bueno, M. R., & Zatz, M. (2002). Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, 111, 152-156. doi:10.1002/ajmg.10551
NLM
Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.10551
Vancouver
Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/ajmg.10551
Artigo de periodico
Phylloid pattern of pigmentary disturbance in a case of complex mosaicism (2001)
Noce, Thelma Ribeiro; Pina Neto, João Monteiro de; Happle, Rudolf
Source: American Journal of Medical Genetics. Unidade: FMRP
Subjects: DOENÇAS DA PELE E DO TECIDO CONJUNTIVO, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NOCE, Thelma Ribeiro e PINA NETO, João Monteiro de e HAPPLE, Rudolf. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism. American Journal of Medical Genetics, v. 98, p. 145-147, 2001Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20010115)98:2%3C145::aid-ajmg1023%3E3.0.co;2-7. Acesso em: 28 nov. 2025.
APA
Noce, T. R., Pina Neto, J. M. de, & Happle, R. (2001). Phylloid pattern of pigmentary disturbance in a case of complex mosaicism. American Journal of Medical Genetics, 98, 145-147. doi:10.1002/1096-8628(20010115)98:2%3C145::aid-ajmg1023%3E3.0.co;2-7
NLM
Noce TR, Pina Neto JM de, Happle R. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism [Internet]. American Journal of Medical Genetics. 2001 ; 98 145-147.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20010115)98:2%3C145::aid-ajmg1023%3E3.0.co;2-7
Vancouver
Noce TR, Pina Neto JM de, Happle R. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism [Internet]. American Journal of Medical Genetics. 2001 ; 98 145-147.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20010115)98:2%3C145::aid-ajmg1023%3E3.0.co;2-7
Artigo de periodico
Mutations in the Caveolin-3 gene: when are they pathogenic? (2001)
Paula, Flavia de; Vainzof, Mariz ; Bernardino, Andréa L. F.; McNally, Elizabeth; Kunkel, Louis M; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PAULA, Flavia de et al. Mutations in the Caveolin-3 gene: when are they pathogenic?. American Journal of Medical Genetics, v. 99, p. 303-307, 2001Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o. Acesso em: 28 nov. 2025.
APA
Paula, F. de, Vainzof, M., Bernardino, A. L. F., McNally, E., Kunkel, L. M., & Zatz, M. (2001). Mutations in the Caveolin-3 gene: when are they pathogenic? American Journal of Medical Genetics, 99, 303-307. doi:10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
NLM
Paula F de, Vainzof M, Bernardino ALF, McNally E, Kunkel LM, Zatz M. Mutations in the Caveolin-3 gene: when are they pathogenic? [Internet]. American Journal of Medical Genetics. 2001 ; 99 303-307.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
Vancouver
Paula F de, Vainzof M, Bernardino ALF, McNally E, Kunkel LM, Zatz M. Mutations in the Caveolin-3 gene: when are they pathogenic? [Internet]. American Journal of Medical Genetics. 2001 ; 99 303-307.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
Artigo de periodico
Origin of uniparental disomy 15 in patients with Prader-Willi or Algelman Syndrome (2000)
Fridman, Cintia; Koiffmann, Celia Priszkulnik
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, SÍNDROME DE ANGELMAN
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRIDMAN, Cintia e KOIFFMANN, Celia Priszkulnik. Origin of uniparental disomy 15 in patients with Prader-Willi or Algelman Syndrome. American Journal of Medical Genetics, v. 94, p. 249-253, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20000918)94:3%3C249::aid-ajmg12%3E3.0.co;2-x. Acesso em: 28 nov. 2025.
APA
Fridman, C., & Koiffmann, C. P. (2000). Origin of uniparental disomy 15 in patients with Prader-Willi or Algelman Syndrome. American Journal of Medical Genetics, 94, 249-253. doi:10.1002/1096-8628(20000918)94:3%3C249::aid-ajmg12%3E3.0.co;2-x
NLM
Fridman C, Koiffmann CP. Origin of uniparental disomy 15 in patients with Prader-Willi or Algelman Syndrome [Internet]. American Journal of Medical Genetics. 2000 ; 94 249-253.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20000918)94:3%3C249::aid-ajmg12%3E3.0.co;2-x
Vancouver
Fridman C, Koiffmann CP. Origin of uniparental disomy 15 in patients with Prader-Willi or Algelman Syndrome [Internet]. American Journal of Medical Genetics. 2000 ; 94 249-253.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20000918)94:3%3C249::aid-ajmg12%3E3.0.co;2-x
Artigo de periodico
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia (2000)
Iughetti, Paula; Alonso, Luís Garcia; Wilcox, William; Alonso, Nivaldo
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
IUGHETTI, Paula et al. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. American Journal of Medical Genetics, n. 95, p. 482-491, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x. Acesso em: 28 nov. 2025.
APA
Iughetti, P., Alonso, L. G., Wilcox, W., & Alonso, N. (2000). Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. American Journal of Medical Genetics, ( 95), 482-491. doi:10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x
NLM
Iughetti P, Alonso LG, Wilcox W, Alonso N. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia [Internet]. American Journal of Medical Genetics. 2000 ;( 95): 482-491.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x
Vancouver
Iughetti P, Alonso LG, Wilcox W, Alonso N. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia [Internet]. American Journal of Medical Genetics. 2000 ;( 95): 482-491.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x
Artigo de periodico-carta/editorial
Neuroimaging and echocardiographic finding in sotos syndrome (2000)
Melo, Débora Gusmão; Pina Neto, João Monteiro de; Acosta, Angelina Xavier; Castro, José Daniel Vieira de; Santos, Antonio Carlos
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MELO, Débora Gusmão et al. Neuroimaging and echocardiographic finding in sotos syndrome. American Journal of Medical Genetics. New York: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 28 nov. 2025. , 2000
APA
Melo, D. G., Pina Neto, J. M. de, Acosta, A. X., Castro, J. D. V. de, & Santos, A. C. (2000). Neuroimaging and echocardiographic finding in sotos syndrome. American Journal of Medical Genetics. New York: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Melo DG, Pina Neto JM de, Acosta AX, Castro JDV de, Santos AC. Neuroimaging and echocardiographic finding in sotos syndrome. American Journal of Medical Genetics. 2000 ; 90 432-433.[citado 2025 nov. 28 ]
Vancouver
Melo DG, Pina Neto JM de, Acosta AX, Castro JDV de, Santos AC. Neuroimaging and echocardiographic finding in sotos syndrome. American Journal of Medical Genetics. 2000 ; 90 432-433.[citado 2025 nov. 28 ]
Artigo de periodico
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family (2000)
Zanchetta, Sthella; Ohara, Kouzaburo; Rodrigues, Patrícia T.; Carvalho, Ester L. L.; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZANCHETTA, Sthella et al. "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family. American Journal of Medical Genetics, v. No 2000, n. 1, p. 13-16, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t. Acesso em: 28 nov. 2025.
APA
Zanchetta, S., Ohara, K., Rodrigues, P. T., Carvalho, E. L. L., & Richieri-Costa, A. (2000). "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family. American Journal of Medical Genetics, No 2000( 1), 13-16. doi:10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t
NLM
Zanchetta S, Ohara K, Rodrigues PT, Carvalho ELL, Richieri-Costa A. "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family [Internet]. American Journal of Medical Genetics. 2000 ; No 2000( 1): 13-16.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t
Vancouver
Zanchetta S, Ohara K, Rodrigues PT, Carvalho ELL, Richieri-Costa A. "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family [Internet]. American Journal of Medical Genetics. 2000 ; No 2000( 1): 13-16.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t
Artigo de periodico
Ablepharon-macrostomia syndrome: first report of familial ocurrence (2000)
Ferraz, Victor Evangelista de Faria; Melo, Débora G.; Hansing, Susanne E.
Source: American Journal of Medical Genetics. Unidade: FMRP
Subjects: OFTALMOPATIAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FERRAZ, Victor Evangelista de Faria e MELO, Débora G. e HANSING, Susanne E. Ablepharon-macrostomia syndrome: first report of familial ocurrence. American Journal of Medical Genetics, v. 94, p. 281-283, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001002)94:4%3C281::aid-ajmg3%3E3.0.co;2-s. Acesso em: 28 nov. 2025.
APA
Ferraz, V. E. de F., Melo, D. G., & Hansing, S. E. (2000). Ablepharon-macrostomia syndrome: first report of familial ocurrence. American Journal of Medical Genetics, 94, 281-283. doi:10.1002/1096-8628(20001002)94:4%3C281::aid-ajmg3%3E3.0.co;2-s
NLM
Ferraz VE de F, Melo DG, Hansing SE. Ablepharon-macrostomia syndrome: first report of familial ocurrence [Internet]. American Journal of Medical Genetics. 2000 ; 94 281-283.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20001002)94:4%3C281::aid-ajmg3%3E3.0.co;2-s
Vancouver
Ferraz VE de F, Melo DG, Hansing SE. Ablepharon-macrostomia syndrome: first report of familial ocurrence [Internet]. American Journal of Medical Genetics. 2000 ; 94 281-283.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/1096-8628(20001002)94:4%3C281::aid-ajmg3%3E3.0.co;2-s
Artigo de periodico
Neuroimaging and echocardiographic findings in sotos syndrome (1999)
Melo, Débora Gusmão; Pina Neto, João Monteiro de; Acosta, Angelina Xavier; Castro, José Daniel Vieira de; Santos, Antonio Carlos
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MELO, Débora Gusmão et al. Neuroimaging and echocardiographic findings in sotos syndrome. American Journal of Medical Genetics, v. 90, p. 1-2, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(20000228)90:5%3C432::aid-ajmg15%3E3.0.co;2-d. Acesso em: 28 nov. 2025.
APA
Melo, D. G., Pina Neto, J. M. de, Acosta, A. X., Castro, J. D. V. de, & Santos, A. C. (1999). Neuroimaging and echocardiographic findings in sotos syndrome. American Journal of Medical Genetics, 90, 1-2. doi:10.1002/(sici)1096-8628(20000228)90:5%3C432::aid-ajmg15%3E3.0.co;2-d
NLM
Melo DG, Pina Neto JM de, Acosta AX, Castro JDV de, Santos AC. Neuroimaging and echocardiographic findings in sotos syndrome [Internet]. American Journal of Medical Genetics. 1999 ; 90 1-2.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000228)90:5%3C432::aid-ajmg15%3E3.0.co;2-d
Vancouver
Melo DG, Pina Neto JM de, Acosta AX, Castro JDV de, Santos AC. Neuroimaging and echocardiographic findings in sotos syndrome [Internet]. American Journal of Medical Genetics. 1999 ; 90 1-2.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000228)90:5%3C432::aid-ajmg15%3E3.0.co;2-d
Artigo de periodico-carta/editorial
Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta] (1999)
Gaspar, D A; Pavanello, R.C; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Andre, M; Steman, S; Wyszynski, D. F; Matioli, Sergio Russo
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: GENÉTICA MÉDICA, LÁBIO FISSURADO, MUTAÇÃO GENÉTICA, POLIMORFISMO, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GASPAR, D A et al. Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta]. American Journal of Medical Genetics. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M. Acesso em: 28 nov. 2025. , 1999
APA
Gaspar, D. A., Pavanello, R. C., Zatz, M., Passos-Bueno, M. R., Andre, M., Steman, S., et al. (1999). Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta]. American Journal of Medical Genetics. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.
NLM
Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M, Steman S, Wyszynski DF, Matioli SR. Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta] [Internet]. American Journal of Medical Genetics. 1999 ; 87 197-199.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M
Vancouver
Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M, Steman S, Wyszynski DF, Matioli SR. Role of the C677T Polymorphism at the MTHFR Gene on Risk to Nonsyndromic Cleft Lip With/Without Cleft Palate: results From a Case-Control Study in Brazil. [Carta] [Internet]. American Journal of Medical Genetics. 1999 ; 87 197-199.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(SICI)1096-8628(19991119)87:2%3C197::AID-AJMG15%3E3.0.CO;2-M
Artigo de periodico
DXS548/FRAXAC1 Haplotypes in fragile X chromosomes in the brazilian population (1999)
Mingroni Netto, Regina Celia ; Vianna-Morgante, Angela M ; Costa, Sílvia S; Angeli, Claudia Blanes
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MINGRONI NETTO, Regina Celia et al. DXS548/FRAXAC1 Haplotypes in fragile X chromosomes in the brazilian population. American Journal of Medical Genetics, v. 84, n. 3, p. 204-207, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19990528)84:3%3C204::aid-ajmg7%3E3.0.co;2-j. Acesso em: 28 nov. 2025.
APA
Mingroni Netto, R. C., Vianna-Morgante, A. M., Costa, S. S., & Angeli, C. B. (1999). DXS548/FRAXAC1 Haplotypes in fragile X chromosomes in the brazilian population. American Journal of Medical Genetics, 84( 3), 204-207. doi:10.1002/(sici)1096-8628(19990528)84:3%3C204::aid-ajmg7%3E3.0.co;2-j
NLM
Mingroni Netto RC, Vianna-Morgante AM, Costa SS, Angeli CB. DXS548/FRAXAC1 Haplotypes in fragile X chromosomes in the brazilian population [Internet]. American Journal of Medical Genetics. 1999 ;84( 3): 204-207.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990528)84:3%3C204::aid-ajmg7%3E3.0.co;2-j
Vancouver
Mingroni Netto RC, Vianna-Morgante AM, Costa SS, Angeli CB. DXS548/FRAXAC1 Haplotypes in fragile X chromosomes in the brazilian population [Internet]. American Journal of Medical Genetics. 1999 ;84( 3): 204-207.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990528)84:3%3C204::aid-ajmg7%3E3.0.co;2-j
Artigo de periodico
Fully mutated and Gray-zone FRAXA alleles in brazilian mentally retarded boys (1999)
Haddad, Luciana Amaral ; Mingroni Netto, Regina Celia ; Vianna-Morgante, Angela M ; Aguiar, Marcos J B; Costa, Sílvia S; Pena, Sérgio D J
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
HADDAD, Luciana Amaral et al. Fully mutated and Gray-zone FRAXA alleles in brazilian mentally retarded boys. American Journal of Medical Genetics, v. 84, n. 3, p. 198-201, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19990528)84:3%3C198::aid-ajmg5%3E3.0.co;2-w. Acesso em: 28 nov. 2025.
APA
Haddad, L. A., Mingroni Netto, R. C., Vianna-Morgante, A. M., Aguiar, M. J. B., Costa, S. S., & Pena, S. D. J. (1999). Fully mutated and Gray-zone FRAXA alleles in brazilian mentally retarded boys. American Journal of Medical Genetics, 84( 3), 198-201. doi:10.1002/(sici)1096-8628(19990528)84:3%3C198::aid-ajmg5%3E3.0.co;2-w
NLM
Haddad LA, Mingroni Netto RC, Vianna-Morgante AM, Aguiar MJB, Costa SS, Pena SDJ. Fully mutated and Gray-zone FRAXA alleles in brazilian mentally retarded boys [Internet]. American Journal of Medical Genetics. 1999 ; 84( 3): 198-201.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990528)84:3%3C198::aid-ajmg5%3E3.0.co;2-w
Vancouver
Haddad LA, Mingroni Netto RC, Vianna-Morgante AM, Aguiar MJB, Costa SS, Pena SDJ. Fully mutated and Gray-zone FRAXA alleles in brazilian mentally retarded boys [Internet]. American Journal of Medical Genetics. 1999 ; 84( 3): 198-201.[citado 2025 nov. 28 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19990528)84:3%3C198::aid-ajmg5%3E3.0.co;2-w
Artigo de periodico-carta/editorial
Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta] (1999)
Pereira, Lygia da Veiga ; Zatz, Mayana
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PEREIRA, Lygia da Veiga e ZATZ, Mayana. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 28 nov. 2025. , 1999
APA
Pereira, L. da V., & Zatz, M. (1999). Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo.
NLM
Pereira L da V, Zatz M. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. 1999 ; 87 86-87.[citado 2025 nov. 28 ]
Vancouver
Pereira L da V, Zatz M. Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation. [Carta]. American Journal of Medical Genetics. 1999 ; 87 86-87.[citado 2025 nov. 28 ]

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