ReP USP - Resultado da busca

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
Fonte: American Journal of Medical Genetics. Unidades: IB, FM
Assuntos: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.36789
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
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.30991
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
Fonte: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.30376
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
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.10634
Artigo de periodico
Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families (2003)
Kliemann, Susana; Waetge, Ricardo T. L.; Suzuki, Oscar T.; Passos-Bueno, Maria Rita ; Rosemberg, Sergio
Fonte: American Journal of Medical Genetics. Unidades: FM, IB
Assuntos: OFTALMOPATIAS (IMUNOLOGIA), OFTALMOPATIAS (GENÉTICA), ANTICORPOS, BIOLOGIA MOLECULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KLIEMANN, Susana et al. Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families. American Journal of Medical Genetics, v. 119 A, n. 1, p. 15-19, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.20070. Acesso em: 15 maio 2024.
APA
Kliemann, S., Waetge, R. T. L., Suzuki, O. T., Passos-Bueno, M. R., & Rosemberg, S. (2003). Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families. American Journal of Medical Genetics, 119 A( 1), 15-19. doi:10.1002/ajmg.a.20070
NLM
Kliemann S, Waetge RTL, Suzuki OT, Passos-Bueno MR, Rosemberg S. Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families [Internet]. American Journal of Medical Genetics. 2003 ; 119 A( 1): 15-19.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.20070
Vancouver
Kliemann S, Waetge RTL, Suzuki OT, Passos-Bueno MR, Rosemberg S. Evidence of neuronal migration disorders in knobloch syndrome: clinical and molecular analysis of two novel families [Internet]. American Journal of Medical Genetics. 2003 ; 119 A( 1): 15-19.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.20070
Artigo de periodico
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene (2003)
Fridman, Cintia; Hosomi, N.; Varela, M. C.; Souza, A H; Fukai, K.; Celia Priszkulnik Koiffmann
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: SÍNDROME DE ANGELMAN, RETARDO MENTAL, DOENÇAS DO SISTEMA NERVOSO CENTRAL, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRIDMAN, Cintia et al. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. American Journal of Medical Genetics, v. 119A, n. 2, p. 180-183, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.20105. Acesso em: 15 maio 2024.
APA
Fridman, C., Hosomi, N., Varela, M. C., Souza, A. H., Fukai, K., & Celia Priszkulnik Koiffmann,. (2003). Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. American Journal of Medical Genetics, 119A( 2), 180-183. doi:10.1002/ajmg.a.20105
NLM
Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Celia Priszkulnik Koiffmann. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene [Internet]. American Journal of Medical Genetics. 2003 ; 119A( 2): 180-183.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.20105
Vancouver
Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Celia Priszkulnik Koiffmann. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene [Internet]. American Journal of Medical Genetics. 2003 ; 119A( 2): 180-183.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.20105
Artigo de periodico
Waardenburg syndrome: clinical differentiation between types I and II (2003)
Pardono, Eliete; Bever, Yolande van; Ende, Jenneke van den; Havrenne, Poti Chimetta; Iughetti, Paula; Maestrelli, Sylvia Regina Pedrosa; Costa Filho, Orozimbo Alves; Richieri-Costa, Antonio; Frota-Pessoa, Oswaldo; Otto, Paulo A
Fonte: American Journal of Medical Genetics. Unidades: FOB, HRAC, IB
Assunto: ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PARDONO, Eliete et al. Waardenburg syndrome: clinical differentiation between types I and II. American Journal of Medical Genetics, v. 117A, n. 3, p. 223-235, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10193. Acesso em: 15 maio 2024.
APA
Pardono, E., Bever, Y. van, Ende, J. van den, Havrenne, P. C., Iughetti, P., Maestrelli, S. R. P., et al. (2003). Waardenburg syndrome: clinical differentiation between types I and II. American Journal of Medical Genetics, 117A( 3), 223-235. doi:10.1002/ajmg.a.10193
NLM
Pardono E, Bever Y van, Ende J van den, Havrenne PC, Iughetti P, Maestrelli SRP, Costa Filho OA, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 3): 223-235.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.10193
Vancouver
Pardono E, Bever Y van, Ende J van den, Havrenne PC, Iughetti P, Maestrelli SRP, Costa Filho OA, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 3): 223-235.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.a.10193
Artigo de periodico
Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications (2002)
Antonini, Sylvie; Kim, Chong A.; Sugayama, Sofia Mizuho Miura; Vianna-Morgante, Angela M
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: DOENÇAS GENÉTICAS, CROMOSSOMOS, RETARDO MENTAL, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANTONINI, Sylvie et al. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications. American Journal of Medical Genetics, v. 113, p. 144-150, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10735. Acesso em: 15 maio 2024.
APA
Antonini, S., Kim, C. A., Sugayama, S. M. M., & Vianna-Morgante, A. M. (2002). Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications. American Journal of Medical Genetics, 113, 144-150. doi:10.1002/ajmg.10735
NLM
Antonini S, Kim CA, Sugayama SMM, Vianna-Morgante AM. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications [Internet]. American Journal of Medical Genetics. 2002 ; 113 144-150.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10735
Vancouver
Antonini S, Kim CA, Sugayama SMM, Vianna-Morgante AM. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications [Internet]. American Journal of Medical Genetics. 2002 ; 113 144-150.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10735
Artigo de periodico
Distribution of CGG repeats and GRAXAC1/DXS548 alleles in south american populations (2002)
Mingroni Netto, Regina Celia ; Angeli, Claudia Blanes; Auricchio, Maria Teresa B. M.; Leal-Mesquita, Emygdia Rosa do Rêgo Barros Pires; Ribeiro-dos-Santos, Andrea K. C.; Ferrari, Íris; Hutz, Mara H.; Salzano, Francisco Mauro; Hill, Kim; Hurtado, A. Magdalena; Vianna-Morgante, Angela M
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: GENÉTICA DE POPULAÇÕES, VARIAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MINGRONI NETTO, Regina Celia et al. Distribution of CGG repeats and GRAXAC1/DXS548 alleles in south american populations. American Journal of Medical Genetics, v. 111, p. 243-252, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10572. Acesso em: 15 maio 2024.
APA
Mingroni Netto, R. C., Angeli, C. B., Auricchio, M. T. B. M., Leal-Mesquita, E. R. do R. B. P., Ribeiro-dos-Santos, A. K. C., Ferrari, Í., et al. (2002). Distribution of CGG repeats and GRAXAC1/DXS548 alleles in south american populations. American Journal of Medical Genetics, 111, 243-252. doi:10.1002/ajmg.10572
NLM
Mingroni Netto RC, Angeli CB, Auricchio MTBM, Leal-Mesquita ER do RBP, Ribeiro-dos-Santos AKC, Ferrari Í, Hutz MH, Salzano FM, Hill K, Hurtado AM, Vianna-Morgante AM. Distribution of CGG repeats and GRAXAC1/DXS548 alleles in south american populations [Internet]. American Journal of Medical Genetics. 2002 ; 111 243-252.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10572
Vancouver
Mingroni Netto RC, Angeli CB, Auricchio MTBM, Leal-Mesquita ER do RBP, Ribeiro-dos-Santos AKC, Ferrari Í, Hutz MH, Salzano FM, Hill K, Hurtado AM, Vianna-Morgante AM. Distribution of CGG repeats and GRAXAC1/DXS548 alleles in south american populations [Internet]. American Journal of Medical Genetics. 2002 ; 111 243-252.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10572
Artigo de periodico
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 (2002)
Passos-Bueno, Maria Rita ; Armelin, Lúcia Maria Libório; Alonso, Luís Garcia; Neustein, Isaac; Sertié, Andréa Laurato; Abe, Kikue Terada; Pavanello, Rita de Cássia M.; Elkis, Livia Cunha; Koiffmann, Celia Priszkulnik
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: MUTAÇÃO GENÉTICA, CRANIOSSINOSTOSE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita et al. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2. American Journal of Medical Genetics, v. 113, p. 200-206, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10752. Acesso em: 15 maio 2024.
APA
Passos-Bueno, M. R., Armelin, L. M. L., Alonso, L. G., Neustein, I., Sertié, A. L., Abe, K. T., et al. (2002). Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2. American Journal of Medical Genetics, 113, 200-206. doi:10.1002/ajmg.10752
NLM
Passos-Bueno MR, Armelin LML, Alonso LG, Neustein I, Sertié AL, Abe KT, Pavanello R de CM, Elkis LC, Koiffmann CP. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 [Internet]. American Journal of Medical Genetics. 2002 ; 113 200-206.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10752
Vancouver
Passos-Bueno MR, Armelin LML, Alonso LG, Neustein I, Sertié AL, Abe KT, Pavanello R de CM, Elkis LC, Koiffmann CP. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 [Internet]. American Journal of Medical Genetics. 2002 ; 113 200-206.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10752
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
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS HEREDITÁRIAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/ajmg.10551
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
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(2001)9999:9999%3C::aid-ajmg1168%3E3.0.co;2-o
Artigo de periodico
Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities? (2001)
Bertola, Débora R.; Kim, Chong A.; Pereira, Alexandre C.; Mota, Glória F.A.; Krieger, José Eduardo; Vieira, Inês C.; Valente, Marcelo; Loreto, Marcos Roberto; Magalhães, Roberto Pereira de; Gonzalez, Claudette Hajaj
Fonte: American Journal of Medical Genetics. Unidades: FM, IB
Assuntos: DOENÇAS GENÉTICAS, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora R. et al. Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?. American Journal of Medical Genetics, v. 98, p. 230-234, 2001Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20010122)98:3%3C230::aid-ajmg1080%3E3.0.co;2-k. Acesso em: 15 maio 2024.
APA
Bertola, D. R., Kim, C. A., Pereira, A. C., Mota, G. F. A., Krieger, J. E., Vieira, I. C., et al. (2001). Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities? American Journal of Medical Genetics, 98, 230-234. doi:10.1002/1096-8628(20010122)98:3%3C230::aid-ajmg1080%3E3.0.co;2-k
NLM
Bertola DR, Kim CA, Pereira AC, Mota GFA, Krieger JE, Vieira IC, Valente M, Loreto MR, Magalhães RP de, Gonzalez CH. Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities? [Internet]. American Journal of Medical Genetics. 2001 ; 98 230-234.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20010122)98:3%3C230::aid-ajmg1080%3E3.0.co;2-k
Vancouver
Bertola DR, Kim CA, Pereira AC, Mota GFA, Krieger JE, Vieira IC, Valente M, Loreto MR, Magalhães RP de, Gonzalez CH. Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities? [Internet]. American Journal of Medical Genetics. 2001 ; 98 230-234.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20010122)98:3%3C230::aid-ajmg1080%3E3.0.co;2-k
Artigo de periodico
Paternal UPD15: further genetic and clinical studies in four Angelman Syndrome patients (2000)
Fridman, Cintia; Varela, Monica C.; Kok, Fernando; Diament, Aron Judka; Koiffmann, Celia Priszkulnik
Fonte: American Journal of Medical Genetics. Unidades: FM, IB
Assunto: NEUROLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FRIDMAN, Cintia et al. Paternal UPD15: further genetic and clinical studies in four Angelman Syndrome patients. American Journal of Medical Genetics, v. 92, p. 322-327, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20000619)92:5%3C322::aid-ajmg6%3E3.0.co;2-y. Acesso em: 15 maio 2024.
APA
Fridman, C., Varela, M. C., Kok, F., Diament, A. J., & Koiffmann, C. P. (2000). Paternal UPD15: further genetic and clinical studies in four Angelman Syndrome patients. American Journal of Medical Genetics, 92, 322-327. doi:10.1002/1096-8628(20000619)92:5%3C322::aid-ajmg6%3E3.0.co;2-y
NLM
Fridman C, Varela MC, Kok F, Diament AJ, Koiffmann CP. Paternal UPD15: further genetic and clinical studies in four Angelman Syndrome patients [Internet]. American Journal of Medical Genetics. 2000 ; 92 322-327.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20000619)92:5%3C322::aid-ajmg6%3E3.0.co;2-y
Vancouver
Fridman C, Varela MC, Kok F, Diament AJ, Koiffmann CP. Paternal UPD15: further genetic and clinical studies in four Angelman Syndrome patients [Internet]. American Journal of Medical Genetics. 2000 ; 92 322-327.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20000619)92:5%3C322::aid-ajmg6%3E3.0.co;2-y
Artigo de periodico
Calculation of recurrence risks for heterogeneous genetic disorders (2000)
Braga, Maria Cristina Célia; Otto, Paulo A ; Frota-Pessoa, Oswaldo
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: ACONSELHAMENTO GENÉTICO, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BRAGA, Maria Cristina Célia e OTTO, Paulo A e FROTA-PESSOA, Oswaldo. Calculation of recurrence risks for heterogeneous genetic disorders. American Journal of Medical Genetics, v. 95, p. 36-42, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001106)95:1%3C36::aid-ajmg8%3E3.0.co;2-8. Acesso em: 15 maio 2024.
APA
Braga, M. C. C., Otto, P. A., & Frota-Pessoa, O. (2000). Calculation of recurrence risks for heterogeneous genetic disorders. American Journal of Medical Genetics, 95, 36-42. doi:10.1002/1096-8628(20001106)95:1%3C36::aid-ajmg8%3E3.0.co;2-8
NLM
Braga MCC, Otto PA, Frota-Pessoa O. Calculation of recurrence risks for heterogeneous genetic disorders [Internet]. American Journal of Medical Genetics. 2000 ; 95 36-42.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C36::aid-ajmg8%3E3.0.co;2-8
Vancouver
Braga MCC, Otto PA, Frota-Pessoa O. Calculation of recurrence risks for heterogeneous genetic disorders [Internet]. American Journal of Medical Genetics. 2000 ; 95 36-42.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C36::aid-ajmg8%3E3.0.co;2-8
Artigo de periodico
Origin of uniparental disomy 15 in patients with Prader-Willi or Algelman Syndrome (2000)
Fridman, Cintia; Koiffmann, Celia Priszkulnik
Fonte: American Journal of Medical Genetics. Unidade: IB
Assuntos: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20000918)94:3%3C249::aid-ajmg12%3E3.0.co;2-x
Trabalho de evento-anais periodico
Fragile X polupation screening (2000)
MacPherson, James L.; Vianna-Morgante, Angela M
Fonte: American Journal of Medical Genetics. Nome do evento: International Workshop on Fragile X Syndrome and X-Linked Mental Retardation. Unidade: IB
Assuntos: ACONSELHAMENTO GENÉTICO, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MACPHERSON, James L. e VIANNA-MORGANTE, Angela M. Fragile X polupation screening. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 maio 2024. , 2000
APA
MacPherson, J. L., & Vianna-Morgante, A. M. (2000). Fragile X polupation screening. American Journal of Medical Genetics. New York: Instituto de Biociências, Universidade de São Paulo.
NLM
MacPherson JL, Vianna-Morgante AM. Fragile X polupation screening. American Journal of Medical Genetics. 2000 ; 94( 5): 351-352.[citado 2024 maio 15 ]
Vancouver
MacPherson JL, Vianna-Morgante AM. Fragile X polupation screening. American Journal of Medical Genetics. 2000 ; 94( 5): 351-352.[citado 2024 maio 15 ]
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
Fonte: 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: 15 maio 2024.
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 2024 maio 15 ] 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 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20001218)95:5%3C482::aid-ajmg14%3E3.0.co;2-x
Artigo de periodico
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin (2000)
Rocco, P.; Vainzof, Mariz ; Froehner, S. C.; Peters, M. F.; Marie, Suely Kazue Nagahashi; Passos-Bueno, Maria Rita ; Zatz, Mayana
Fonte: American Journal of Medical Genetics. Unidades: FM, IB
Assunto: NEUROLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROCCO, P. et al. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. American Journal of Medical Genetics, v. 92, p. 122-7, 2000Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b. Acesso em: 15 maio 2024.
APA
Rocco, P., Vainzof, M., Froehner, S. C., Peters, M. F., Marie, S. K. N., Passos-Bueno, M. R., & Zatz, M. (2000). Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. American Journal of Medical Genetics, 92, 122-7. doi:10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
NLM
Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SKN, Passos-Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin [Internet]. American Journal of Medical Genetics. 2000 ; 92 122-7.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
Vancouver
Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SKN, Passos-Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin [Internet]. American Journal of Medical Genetics. 2000 ; 92 122-7.[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/(sici)1096-8628(20000515)92:2%3C122::aid-ajmg8%3E3.0.co;2-b
Artigo de periodico
Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant dominant conditions and the calculation of recurrence risks for their offspring: I. autosomal dominant genes (2000)
Otto, Paulo A ; Maestrelli, Sylvia Regina Pedrosa
Fonte: American Journal of Medical Genetics. Unidade: IB
Assunto: DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OTTO, Paulo A e MAESTRELLI, Sylvia Regina Pedrosa. Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant dominant conditions and the calculation of recurrence risks for their offspring: I. autosomal dominant genes. American Journal of Medical Genetics, v. 95, n. 43-48, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001106)95:1%3C43::aid-ajmg9%3E3.3.co;2-x. Acesso em: 15 maio 2024.
APA
Otto, P. A., & Maestrelli, S. R. P. (2000). Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant dominant conditions and the calculation of recurrence risks for their offspring: I. autosomal dominant genes. American Journal of Medical Genetics, 95( 43-48). doi:10.1002/1096-8628(20001106)95:1%3C43::aid-ajmg9%3E3.3.co;2-x
NLM
Otto PA, Maestrelli SRP. Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant dominant conditions and the calculation of recurrence risks for their offspring: I. autosomal dominant genes [Internet]. American Journal of Medical Genetics. 2000 ; 95( 43-48):[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C43::aid-ajmg9%3E3.3.co;2-x
Vancouver
Otto PA, Maestrelli SRP. Heterozygosity probabilities for normal relatives of isolated cases affected by incompletely penetrant dominant conditions and the calculation of recurrence risks for their offspring: I. autosomal dominant genes [Internet]. American Journal of Medical Genetics. 2000 ; 95( 43-48):[citado 2024 maio 15 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C43::aid-ajmg9%3E3.3.co;2-x

Unidades USP

ReP

Filtros

Unidades USP

Departamento

Autores

Autores USP

Ano de publicação

Assuntos

Agência de fomento

Indexado em

Afiliação dos autores externos normalizada

Afiliação dos autores externos não normalizada