ReP USP - Resultado da busca

Artigo de periodico
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome (2019)
Richieri-Costa, Antonio ; Zechi-Ceide, Roseli Maria ; Souza, Rosana Maria Candido ; Monteiro, Rejane Alves de Carvalho; Tonello, Cristiano; Freitas, Mariana L. de; Nakata, Nancy Mizue Kokitsu ; Pittoli, Siulan Vendramini Paulovich ; Mazzeu, Juliana F; Overes, Madelief; Ali-Amin, Roza; van Slegtenhorst, Marjon; Hoefsloot, Lies H; Jehee, Fernanda S
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: GENÉTICA, HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio et al. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, v. No 2019, n. 11, p. 2170-2177, 2019Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.61305. Acesso em: 21 out. 2025.
APA
Richieri-Costa, A., Zechi-Ceide, R. M., Souza, R. M. C., Monteiro, R. A. de C., Tonello, C., Freitas, M. L. de, et al. (2019). Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, No 2019( 11), 2170-2177. doi:10.1002/ajmg.a.61305
NLM
Richieri-Costa A, Zechi-Ceide RM, Souza RMC, Monteiro RA de C, Tonello C, Freitas ML de, Nakata NMK, Pittoli SVP, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome [Internet]. American Journal of Medical Genetics. 2019 ; No 2019( 11): 2170-2177.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Vancouver
Richieri-Costa A, Zechi-Ceide RM, Souza RMC, Monteiro RA de C, Tonello C, Freitas ML de, Nakata NMK, Pittoli SVP, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome [Internet]. American Journal of Medical Genetics. 2019 ; No 2019( 11): 2170-2177.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Artigo de periodico
Low serum fatty acid levels in pregnancies with fetal gastroschisis: a prospective study (2018)
Centofanti, Sandra Frankfurt; Francisco, Rossana Pulcineli Vieira; Philippi, Sonia Tucunduva ; Castro, Inar Alves de ; Hoshida, Mara Sandra; Curi, Rui; Brizot, Maria de Lourdes
Source: American Journal of Medical Genetics. Unidades: FM, FCF
Subjects: ÁCIDOS GRAXOS, LIPÍDEOS, GRAVIDEZ
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CENTOFANTI, Sandra Frankfurt et al. Low serum fatty acid levels in pregnancies with fetal gastroschisis: a prospective study. American Journal of Medical Genetics, v. 176, n. 4, p. 915-924, 2018Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38638. Acesso em: 21 out. 2025.
APA
Centofanti, S. F., Francisco, R. P. V., Philippi, S. T., Castro, I. A. de, Hoshida, M. S., Curi, R., & Brizot, M. de L. (2018). Low serum fatty acid levels in pregnancies with fetal gastroschisis: a prospective study. American Journal of Medical Genetics, 176( 4), 915-924. doi:10.1002/ajmg.a.38638
NLM
Centofanti SF, Francisco RPV, Philippi ST, Castro IA de, Hoshida MS, Curi R, Brizot M de L. Low serum fatty acid levels in pregnancies with fetal gastroschisis: a prospective study [Internet]. American Journal of Medical Genetics. 2018 ; 176( 4): 915-924.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.38638
Vancouver
Centofanti SF, Francisco RPV, Philippi ST, Castro IA de, Hoshida MS, Curi R, Brizot M de L. Low serum fatty acid levels in pregnancies with fetal gastroschisis: a prospective study [Internet]. American Journal of Medical Genetics. 2018 ; 176( 4): 915-924.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.38638
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 21 out. 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 out. 21 ] 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 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.36789
Artigo de periodico
Ablepharon macrostomia syndrome: a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders (2013)
Schanze, Denny; Harakalova, Magdalena; Stevens, Cathy A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz, Victor Evangelista de Faria; McGinn, Donna M. McDonald; Zackai, Elaine H.; Wright, Michael; Lieshout, Stef van; Vogel, Maartje J.; Haelst, Mieke M. van; Zenker, Martin
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: MALFORMAÇÕES (GENÉTICA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SCHANZE, Denny et al. Ablepharon macrostomia syndrome: a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders. American Journal of Medical Genetics, v. 161A, n. 12, p. 3012\20133017, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36119. Acesso em: 21 out. 2025.
APA
Schanze, D., Harakalova, M., Stevens, C. A., Brancati, F., Dallapiccola, B., Farndon, P., et al. (2013). Ablepharon macrostomia syndrome: a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders. American Journal of Medical Genetics, 161A( 12), 3012\20133017. doi:10.1002/ajmg.a.36119
NLM
Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE de F, McGinn DMMD, Zackai EH, Wright M, Lieshout S van, Vogel MJ, Haelst MM van, Zenker M. Ablepharon macrostomia syndrome: a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders [Internet]. American Journal of Medical Genetics. 2013 ; 161A( 12): 3012\20133017.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.36119
Vancouver
Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE de F, McGinn DMMD, Zackai EH, Wright M, Lieshout S van, Vogel MJ, Haelst MM van, Zenker M. Ablepharon macrostomia syndrome: a distinct genetic entity clinically related to the group of FRAS–FREM complex disorders [Internet]. American Journal of Medical Genetics. 2013 ; 161A( 12): 3012\20133017.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.36119
Artigo de periodico
Two new brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights (2008)
Gomy, Israel; Heck, Benjamin; Santos, Antonio Carlos dos; Figueiredo, Maria Silvia L.; Martinelli Júnior, Carlos Eduardo; Nogueira, Maria Priscila C.; Pina-Neto, João Monteiro
Source: American Journal of Medical Genetics. Unidade: FMRP
Subjects: DOENÇAS DO SISTEMA NERVOSO CENTRAL, MANIFESTAÇÕES NEUROLÓGICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMY, Israel et al. Two new brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights. American Journal of Medical Genetics, v. 146A, p. 649-657, 2008Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32173. Acesso em: 21 out. 2025.
APA
Gomy, I., Heck, B., Santos, A. C. dos, Figueiredo, M. S. L., Martinelli Júnior, C. E., Nogueira, M. P. C., & Pina-Neto, J. M. (2008). Two new brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights. American Journal of Medical Genetics, 146A, 649-657. doi:10.1002/ajmg.a.32173
NLM
Gomy I, Heck B, Santos AC dos, Figueiredo MSL, Martinelli Júnior CE, Nogueira MPC, Pina-Neto JM. Two new brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights [Internet]. American Journal of Medical Genetics. 2008 ; 146A 649-657.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.32173
Vancouver
Gomy I, Heck B, Santos AC dos, Figueiredo MSL, Martinelli Júnior CE, Nogueira MPC, Pina-Neto JM. Two new brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights [Internet]. American Journal of Medical Genetics. 2008 ; 146A 649-657.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.32173
Artigo de periodico
Preliminary molecular studies on blepharocheilodontic syndrome (2007)
Freitas, Érika L.; Martinhago, Ciro D.; Ramos, Ester Silveira; Murray, Jeffrey C.; Gil-da-Silva-Lopes, Vera L.
Source: American Journal of Medical Genetics. Unidade: FMRP
Assunto: ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, Érika L. et al. Preliminary molecular studies on blepharocheilodontic syndrome. American Journal of Medical Genetics, v. 143A, n. 22, p. 2757-2759, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32010. Acesso em: 21 out. 2025.
APA
Freitas, É. L., Martinhago, C. D., Ramos, E. S., Murray, J. C., & Gil-da-Silva-Lopes, V. L. (2007). Preliminary molecular studies on blepharocheilodontic syndrome. American Journal of Medical Genetics, 143A( 22), 2757-2759. doi:10.1002/ajmg.a.32010
NLM
Freitas ÉL, Martinhago CD, Ramos ES, Murray JC, Gil-da-Silva-Lopes VL. Preliminary molecular studies on blepharocheilodontic syndrome [Internet]. American Journal of Medical Genetics. 2007 ; 143A( 22): 2757-2759.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.32010
Vancouver
Freitas ÉL, Martinhago CD, Ramos ES, Murray JC, Gil-da-Silva-Lopes VL. Preliminary molecular studies on blepharocheilodontic syndrome [Internet]. American Journal of Medical Genetics. 2007 ; 143A( 22): 2757-2759.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.32010
Artigo de periodico
An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome (2005)
Jehee, Fernanda Sarquis; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Kok, Fernando; Knijnenburg, Jeroen; Froyen, Guy; Vianna-Morgante, Angela M ; Opitz, John M.; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics. Unidade: IB
Subjects: CROMOSSOMO X (ANOMALIAS), MALFORMAÇÕES, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
JEHEE, Fernanda Sarquis et al. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, v. 139A, n. 3, p. 221-225, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30991. Acesso em: 21 out. 2025.
APA
Jehee, F. S., Rosenberg, C., Krepischi, A. C. V., Kok, F., Knijnenburg, J., Froyen, G., et al. (2005). An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. American Journal of Medical Genetics, 139A( 3), 221-225. doi:10.1002/ajmg.a.30991
NLM
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30991
Vancouver
Jehee FS, Rosenberg C, Krepischi ACV, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome [Internet]. American Journal of Medical Genetics. 2005 ; 139A( 3): 221-225.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30991
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: 21 out. 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 out. 21 ] 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 out. 21 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
Trabalho de evento-resumo periodico
Association between low amplitude P3 and DRD4 polymorphisms in 8-years old children (2005)
Vogel, C. I.; Laucht, M.; Furtado, Erikson Felipe; Schimidt, M. H.
Source: American Journal of Medical Genetics. Conference titles: Annual Meeting of The American Society of Human Genetics. Unidade: FMRP
Subjects: POLIMORFISMO, CRIANÇAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VOGEL, C. I. et al. Association between low amplitude P3 and DRD4 polymorphisms in 8-years old children. American Journal of Medical Genetics. Hoboken: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 21 out. 2025. , 2005
APA
Vogel, C. I., Laucht, M., Furtado, E. F., & Schimidt, M. H. (2005). Association between low amplitude P3 and DRD4 polymorphisms in 8-years old children. American Journal of Medical Genetics. Hoboken: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Vogel CI, Laucht M, Furtado EF, Schimidt MH. Association between low amplitude P3 and DRD4 polymorphisms in 8-years old children. American Journal of Medical Genetics. 2005 ; 138B( 1): 53.[citado 2025 out. 21 ]
Vancouver
Vogel CI, Laucht M, Furtado EF, Schimidt MH. Association between low amplitude P3 and DRD4 polymorphisms in 8-years old children. American Journal of Medical Genetics. 2005 ; 138B( 1): 53.[citado 2025 out. 21 ]
Artigo de periodico
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations (2005)
Angeli, Claudia Blanes; Capelli, Leonardo Pires; Auricchio, Maria Teresa Ballester de Melo; Vianna-Morgante, Angela M ; Mingroni Netto, Regina Celia ; Leal-Mesquita, Emygdia Rosa do Rêgo Barros Pires; Ribeiro-dos-Santos, Andrea K. C.; Ferrari, Íris; Oliveira, Silviene Fabiana de; Klautau-Guimarães, Maria de Nazaré
Source: American Journal of Medical Genetics. Unidade: IB
Assunto: MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANGELI, Claudia Blanes et al. AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations. American Journal of Medical Genetics, v. 132A, n. 2, p. 210-214, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30376. Acesso em: 21 out. 2025.
APA
Angeli, C. B., Capelli, L. P., Auricchio, M. T. B. de M., Vianna-Morgante, A. M., Mingroni Netto, R. C., Leal-Mesquita, E. R. do R. B. P., et al. (2005). AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations. American Journal of Medical Genetics, 132A( 2), 210-214. doi:10.1002/ajmg.a.30376
NLM
Angeli CB, Capelli LP, Auricchio MTB de M, Vianna-Morgante AM, Mingroni Netto RC, Leal-Mesquita ER do RBP, Ribeiro-dos-Santos AKC, Ferrari Í, Oliveira SF de, Klautau-Guimarães M de N. AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations [Internet]. American Journal of Medical Genetics. 2005 ; 132A( 2): 210-214.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30376
Vancouver
Angeli CB, Capelli LP, Auricchio MTB de M, Vianna-Morgante AM, Mingroni Netto RC, Leal-Mesquita ER do RBP, Ribeiro-dos-Santos AKC, Ferrari Í, Oliveira SF de, Klautau-Guimarães M de N. AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations [Internet]. American Journal of Medical Genetics. 2005 ; 132A( 2): 210-214.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30376
Artigo de periodico
Neurofibromatosis-noonan syndrome:: molecular evidence of the concurrence of both disorders in a patient (2005)
Bertola, Debora R.; Pereira, Alexandre C.; Passetti, Fábio; Oliveira, Paulo S. L. de; Messiaen, Ludwine; Gelb, Bruce D.; Kim, Chong A.; Krieger, José Eduardo
Source: American Journal of Medical Genetics. Unidade: FM
Subjects: DOENÇAS GENÉTICAS (CLASSIFICAÇÃO), POLIMORFISMO, PARENTESCO, REAÇÃO EM CADEIA POR POLIMERASE, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Debora R. et al. Neurofibromatosis-noonan syndrome:: molecular evidence of the concurrence of both disorders in a patient. American Journal of Medical Genetics, v. 136A, n. 3, p. 242-245, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30813. Acesso em: 21 out. 2025.
APA
Bertola, D. R., Pereira, A. C., Passetti, F., Oliveira, P. S. L. de, Messiaen, L., Gelb, B. D., et al. (2005). Neurofibromatosis-noonan syndrome:: molecular evidence of the concurrence of both disorders in a patient. American Journal of Medical Genetics, 136A( 3), 242-245. doi:10.1002/ajmg.a.30813
NLM
Bertola DR, Pereira AC, Passetti F, Oliveira PSL de, Messiaen L, Gelb BD, Kim CA, Krieger JE. Neurofibromatosis-noonan syndrome:: molecular evidence of the concurrence of both disorders in a patient [Internet]. American Journal of Medical Genetics. 2005 ; 136A( 3): 242-245.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30813
Vancouver
Bertola DR, Pereira AC, Passetti F, Oliveira PSL de, Messiaen L, Gelb BD, Kim CA, Krieger JE. Neurofibromatosis-noonan syndrome:: molecular evidence of the concurrence of both disorders in a patient [Internet]. American Journal of Medical Genetics. 2005 ; 136A( 3): 242-245.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30813
Artigo de periodico
Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in brazilian children (2004)
Aléssio, Ana Claudia M.; Annichio-Bizzachi, Joyce M.; Bydlowski, Sérgio Paulo; Eberlin, Marcos N.; Vellasco, Adriana P.; Höehr, Nelci Fenalti
Source: American Journal of Medical Genetics. Unidade: FM
Subjects: POLIMORFISMO, GENES, FATORES DE RISCO, DOENÇAS CARDIOVASCULARES (PREVENÇÃO E CONTROLE), CRIANÇAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ALÉSSIO, Ana Claudia M. et al. Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in brazilian children. American Journal of Medical Genetics, v. 128A, n. 3, p. 256-260, 2004Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30108. Acesso em: 21 out. 2025.
APA
Aléssio, A. C. M., Annichio-Bizzachi, J. M., Bydlowski, S. P., Eberlin, M. N., Vellasco, A. P., & Höehr, N. F. (2004). Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in brazilian children. American Journal of Medical Genetics, 128A( 3), 256-260. doi:10.1002/ajmg.a.30108
NLM
Aléssio ACM, Annichio-Bizzachi JM, Bydlowski SP, Eberlin MN, Vellasco AP, Höehr NF. Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in brazilian children [Internet]. American Journal of Medical Genetics. 2004 ; 128A( 3): 256-260.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30108
Vancouver
Aléssio ACM, Annichio-Bizzachi JM, Bydlowski SP, Eberlin MN, Vellasco AP, Höehr NF. Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in brazilian children [Internet]. American Journal of Medical Genetics. 2004 ; 128A( 3): 256-260.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30108
Artigo de periodico
Unusual nasal duplication in two patients (2004)
Guion-Almeida, Maria Leine; Lamônica Neto, Domingos; Lopes, Vera Lúcia Gil da Silva
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: NARIZ (ANATOMIA), TOMOGRAFIA COMPUTADORIZADA POR RAIOS X, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine e LAMÔNICA NETO, Domingos e LOPES, Vera Lúcia Gil da Silva. Unusual nasal duplication in two patients. American Journal of Medical Genetics, v. No 2004, n. 4, p. 435-436, 2004Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30278. Acesso em: 21 out. 2025.
APA
Guion-Almeida, M. L., Lamônica Neto, D., & Lopes, V. L. G. da S. (2004). Unusual nasal duplication in two patients. American Journal of Medical Genetics, No 2004( 4), 435-436. doi:10.1002/ajmg.a.30278
NLM
Guion-Almeida ML, Lamônica Neto D, Lopes VLG da S. Unusual nasal duplication in two patients [Internet]. American Journal of Medical Genetics. 2004 ; No 2004( 4): 435-436.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30278
Vancouver
Guion-Almeida ML, Lamônica Neto D, Lopes VLG da S. Unusual nasal duplication in two patients [Internet]. American Journal of Medical Genetics. 2004 ; No 2004( 4): 435-436.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30278
Artigo de periodico
Discordant phenotypes in first cousins with UBE3A frameshift mutation (2004)
Molfetta, Greice Andreotti de; Muñoz, M. R. V.; Santos, Antônio Carlos dos; Silva Júnior, Wilson Araújo da; Wagstaff, J.; Pina Neto, João Monteiro de
Source: American Journal of Medical Genetics. Unidade: FMRP
Subjects: MUTAÇÃO GENÉTICA, SÍNDROME DE ANGELMAN
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOLFETTA, Greice Andreotti de et al. Discordant phenotypes in first cousins with UBE3A frameshift mutation. American Journal of Medical Genetics, v. 127A, p. 258-262, 2004Tradução . . Acesso em: 21 out. 2025.
APA
Molfetta, G. A. de, Muñoz, M. R. V., Santos, A. C. dos, Silva Júnior, W. A. da, Wagstaff, J., & Pina Neto, J. M. de. (2004). Discordant phenotypes in first cousins with UBE3A frameshift mutation. American Journal of Medical Genetics, 127A, 258-262.
NLM
Molfetta GA de, Muñoz MRV, Santos AC dos, Silva Júnior WA da, Wagstaff J, Pina Neto JM de. Discordant phenotypes in first cousins with UBE3A frameshift mutation. American Journal of Medical Genetics. 2004 ; 127A 258-262.[citado 2025 out. 21 ]
Vancouver
Molfetta GA de, Muñoz MRV, Santos AC dos, Silva Júnior WA da, Wagstaff J, Pina Neto JM de. Discordant phenotypes in first cousins with UBE3A frameshift mutation. American Journal of Medical Genetics. 2004 ; 127A 258-262.[citado 2025 out. 21 ]
Artigo de periodico
Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia: seven new mutations (2004)
Coutinho, Gabriela; Mitui, Midori; Campbell, Catarina; Carvalho, Beatriz T. Costa; Nahas, Shareef; Sun, Xia; Huo, Yong; Lai, Chih-hung; Thorstenson, Yvonne; Tanouye, Robert; Raskin, Salmo; Kim, Chong Ae; Llerena Junior, Juan; Gatti, Richard A.
Source: American Journal of Medical Genetics. Unidade: FM
Subjects: DOENÇAS DO SISTEMA NERVOSO (GENÉTICA), DOENÇAS DO SISTEMA NERVOSO CENTRAL (GENÉTICA), GENÉTICA MOLECULAR, FAMÍLIA, POLIMORFISMO, BRASIL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
COUTINHO, Gabriela et al. Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia: seven new mutations. American Journal of Medical Genetics, v. 126A, n. 1, p. 33-40, 2004Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.20570. Acesso em: 21 out. 2025.
APA
Coutinho, G., Mitui, M., Campbell, C., Carvalho, B. T. C., Nahas, S., Sun, X., et al. (2004). Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia: seven new mutations. American Journal of Medical Genetics, 126A( 1), 33-40. doi:10.1002/ajmg.a.20570
NLM
Coutinho G, Mitui M, Campbell C, Carvalho BTC, Nahas S, Sun X, Huo Y, Lai C-hung, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena Junior J, Gatti RA. Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia: seven new mutations [Internet]. American Journal of Medical Genetics. 2004 ; 126A( 1): 33-40.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.20570
Vancouver
Coutinho G, Mitui M, Campbell C, Carvalho BTC, Nahas S, Sun X, Huo Y, Lai C-hung, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena Junior J, Gatti RA. Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia: seven new mutations [Internet]. American Journal of Medical Genetics. 2004 ; 126A( 1): 33-40.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.20570
Artigo de periodico
Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? (2004)
Guion-Almeida, Maria Leine; Paula, Ligiane Alves Machado; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine e PAULA, Ligiane Alves Machado e RICHIERI-COSTA, Antonio. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?. American Journal of Medical Genetics, v. 129A, n. 2, p. 156-161, 2004Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30153. Acesso em: 21 out. 2025.
APA
Guion-Almeida, M. L., Paula, L. A. M., & Richieri-Costa, A. (2004). Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? American Journal of Medical Genetics, 129A( 2), 156-161. doi:10.1002/ajmg.a.30153
NLM
Guion-Almeida ML, Paula LAM, Richieri-Costa A. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? [Internet]. American Journal of Medical Genetics. 2004 ; 129A( 2): 156-161.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30153
Vancouver
Guion-Almeida ML, Paula LAM, Richieri-Costa A. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? [Internet]. American Journal of Medical Genetics. 2004 ; 129A( 2): 156-161.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.30153
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 21 out. 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 out. 21 ]
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 out. 21 ]
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 21 out. 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 out. 21 ]
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 out. 21 ]
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: 21 out. 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 out. 21 ] 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 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.20364
Artigo de periodico
Aural atresia and microtia in Kabuki syndrome [Research Letter] (2003)
Nakata, Nancy Mizue Kokitsu; Guion-Almeida, Maria Leine
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu e GUION-ALMEIDA, Maria Leine. Aural atresia and microtia in Kabuki syndrome [Research Letter]. American Journal of Medical Genetics, v. 118A, n. 4, p. 391-393, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10189. Acesso em: 21 out. 2025.
APA
Nakata, N. M. K., & Guion-Almeida, M. L. (2003). Aural atresia and microtia in Kabuki syndrome [Research Letter]. American Journal of Medical Genetics, 118A( 4), 391-393. doi:10.1002/ajmg.a.10189
NLM
Nakata NMK, Guion-Almeida ML. Aural atresia and microtia in Kabuki syndrome [Research Letter] [Internet]. American Journal of Medical Genetics. 2003 ; 118A( 4): 391-393.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.10189
Vancouver
Nakata NMK, Guion-Almeida ML. Aural atresia and microtia in Kabuki syndrome [Research Letter] [Internet]. American Journal of Medical Genetics. 2003 ; 118A( 4): 391-393.[citado 2025 out. 21 ] Available from: https://doi.org/10.1002/ajmg.a.10189

USP Schools

ReP

Filtros

USP Schools

Departament

Authors

USP affiliated authors

Date published

Subjects

Conference titles

Funding Agencies

Indexado em

Normalized affiliation

Non normalized affiliation

Countries of institutions of collaboration