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Artigo de periodico
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy (2014)
Yamamoto, Guilherme L.; Baratela, Wagner A. R.; Almeida, Tatiana F.; Lazar, Monize; Afonso, Clara L.; Oyamada, Maria K.; Suzuki, Lisa; Oliveira, Luiz A. N.; Ramos, Ester Silveira; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Fonte: American Journal of Human Genetics. Unidades: FMRP, FM, IB
Assuntos: OFTALMOLOGIA (MÉTODOS), DOENÇAS RETINIANAS (GENÉTICA)
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ABNT
YAMAMOTO, Guilherme L. et al. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, v. 94, n. 1, p. 113-119, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2013.11.022. Acesso em: 15 jun. 2024.
APA
Yamamoto, G. L., Baratela, W. A. R., Almeida, T. F., Lazar, M., Afonso, C. L., Oyamada, M. K., et al. (2014). Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, 94( 1), 113-119. doi:10.1016/j.ajhg.2013.11.022
NLM
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2024 jun. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Vancouver
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2024 jun. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Artigo de periodico
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes (2014)
Carvalho, Claudia M.B.; Vasanth, Shivakumar; Shinawi, Marwan; Russell, Chad; Ramocki, Melissa B.; Brown, Chester W.; Graakjaer, Jesper; Skytte, Anne-Bine; Patel, Gayle S.; Immken, LaDonna; Aleck, Kyrieckos; Lim, Cynthia; Cheung, Sau Wai; Rosenberg, Carla ; Katsanis, Nicholas; Lupski, James R.
Fonte: American Journal of Human Genetics. Unidade: IB
Assuntos: GENES, MUTAÇÃO GENÉTICA
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ABNT
CARVALHO, Claudia M.B. et al. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics, v. 95, p. 565-578, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2014.10.006. Acesso em: 15 jun. 2024.
APA
Carvalho, C. M. B., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M. B., Brown, C. W., et al. (2014). Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics, 95, 565-578. doi:10.1016/j.ajhg.2014.10.006
NLM
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Patel GS, Immken LD, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes [Internet]. American Journal of Human Genetics. 2014 ; 95 565-578.[citado 2024 jun. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2014.10.006
Vancouver
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Patel GS, Immken LD, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes [Internet]. American Journal of Human Genetics. 2014 ; 95 565-578.[citado 2024 jun. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2014.10.006
Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Fonte: American Journal of Human Genetics. Unidades: HRAC, IB, HRACF
Assuntos: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
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ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 15 jun. 2024.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 jun. 15 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 jun. 15 ]
Artigo de periodico
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy (2012)
Scionti, Isabella; Greco, Francesca; Ricci, Giulia; Govi, Monica; Arashiro, Patrícia; Vercelli, Liliana; Berardinelli, Angela; Angelini, Corrado; Antonini, Giovanni; Cao, Michelangelo; Muzio, Antonio Di; Moggio, Maurizio; Morandi, Lucia; Ricci, Enzo; Rodolico, Carmelo; Ruggiero, Lucia; Santoro, Lucio; Siciliano, Gabriele; Tomelleri, Giuliano; Trevisan, Carlo Pietro; Galluzzi, Giuliana; Wright, Woodring; Zatz, Mayana ; Tupler, Rosella
Fonte: American Journal of Human Genetics. Unidade: IB
Assuntos: DISTROFIA MUSCULAR, DOENÇAS GENÉTICAS, GENÉTICA MOLECULAR
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ABNT
SCIONTI, Isabella et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy. American Journal of Human Genetics, v. 90, n. 4, p. 628-635, 2012Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2012.02.019. Acesso em: 15 jun. 2024.
APA
Scionti, I., Greco, F., Ricci, G., Govi, M., Arashiro, P., Vercelli, L., et al. (2012). Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy. American Journal of Human Genetics, 90( 4), 628-635. doi:10.1016/j.ajhg.2012.02.019
NLM
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Muzio AD, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy [Internet]. American Journal of Human Genetics. 2012 ; 90( 4): 628-635.[citado 2024 jun. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2012.02.019
Vancouver
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Muzio AD, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral Muscular Dystrophy [Internet]. American Journal of Human Genetics. 2012 ; 90( 4): 628-635.[citado 2024 jun. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2012.02.019
Artigo de periodico
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia (2007)
Valdmanis, Paul N.; Meijer, Inge A.; Reynolds, Annie; Lei, Adrienne; MacLeod, Patrick; Schlesinger, David; Zatz, Mayana ; Reid, Evan; Dion, Patrick A.; Drapeau, Pierre; Rouleau, Guy A.
Fonte: American Journal of Human Genetics. Unidade: IB
Assuntos: DOENÇAS NEURODEGENERATIVAS, DOENÇAS HEREDITÁRIAS
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ABNT
VALDMANIS, Paul N. et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics, v. 80, n. 1, p. 152-161, 2007Tradução . . Acesso em: 15 jun. 2024.
APA
Valdmanis, P. N., Meijer, I. A., Reynolds, A., Lei, A., MacLeod, P., Schlesinger, D., et al. (2007). Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics, 80( 1), 152-161.
NLM
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics. 2007 ; 80( 1): 152-161.[citado 2024 jun. 15 ]
Vancouver
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics. 2007 ; 80( 1): 152-161.[citado 2024 jun. 15 ]
Artigo de periodico
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity (2007)
Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda Sarquis; Perlyn, Chad A.; Alonso, Luís Garcia; Bueno, Daniela Franco; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Orstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; Nürnberg, Peter; Passos-Bueno, Maria Rita ; Wilkie, Andrew O. M.
Fonte: American Journal of Human Genetics. Unidade: IB
Assuntos: CRANIOSSINOSTOSE, DOENÇAS HEREDITÁRIAS, ANORMALIDADES CRANIOFACIAIS
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ABNT
JENKINS, Dagan et al. RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics, v. 80, n. ju 2007, p. 1162-1170, 2007Tradução . . Acesso em: 15 jun. 2024.
APA
Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., et al. (2007). RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics, 80( ju 2007), 1162-1170.
NLM
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR, Wilkie AOM. RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics. 2007 ; 80( ju 2007): 1162-1170.[citado 2024 jun. 15 ]
Vancouver
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR, Wilkie AOM. RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics. 2007 ; 80( ju 2007): 1162-1170.[citado 2024 jun. 15 ]
Artigo de periodico
Red-green color vision impairment in Duchenne Muscular Dystrophy (2007)
Costa, Marcelo Fernandes da ; Oliveira, André Gustavo Fernandes; Feitosa-Santana, Claudia; Zatz, Mayana ; Ventura, Dora Selma Fix
Fonte: American Journal of Human Genetics. Unidades: IB, IP
Assuntos: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA
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ABNT
COSTA, Marcelo Fernandes da et al. Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics, v. 80, n. 6, p. 1064-1075, 2007Tradução . . Acesso em: 15 jun. 2024.
APA
Costa, M. F. da, Oliveira, A. G. F., Feitosa-Santana, C., Zatz, M., & Ventura, D. S. F. (2007). Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics, 80( 6), 1064-1075.
NLM
Costa MF da, Oliveira AGF, Feitosa-Santana C, Zatz M, Ventura DSF. Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics. 2007 ; 80( 6): 1064-1075.[citado 2024 jun. 15 ]
Vancouver
Costa MF da, Oliveira AGF, Feitosa-Santana C, Zatz M, Ventura DSF. Red-green color vision impairment in Duchenne Muscular Dystrophy. American Journal of Human Genetics. 2007 ; 80( 6): 1064-1075.[citado 2024 jun. 15 ]
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes L.; Mitne Neto, Miguel; Silva, Helga C. A.; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João R. M.; Gillingwater, Tom; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Fonte: American Journal of Human Genetics. Unidades: HRAC, IB
Assuntos: DOENÇAS NEUROMUSCULARES, DOENÇAS NEURODEGENERATIVAS
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ABNT
NISHIMURA, Agnes L. et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. No, n. 5, p. 822-831, 2004Tradução . . Acesso em: 15 jun. 2024.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, No( 5), 822-831.
NLM
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2024 jun. 15 ]
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics. 2004 ; No( 5): 822-831.[citado 2024 jun. 15 ]
Artigo de periodico
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (2004)
Nishimura, Agnes Lumi; Mitne Neto, Miguel; Silva, Helga Cristina Almeida da; Richieri-Costa, Antonio; Middleton, Susan; Cascio, Duilio; Kok, Fernando; Oliveira, João Ricardo Mendes de; Gillingwater, T.; Webb, Jeanette; Skehel, Paul; Zatz, Mayana
Fonte: American Journal of Human Genetics. Unidades: HRAC, IB
Assuntos: DOENÇAS NEURODEGENERATIVAS, MUTAÇÃO GENÉTICA
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ABNT
NISHIMURA, Agnes Lumi et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, v. 75, n. 5, p. 822-831, 2004Tradução . . Disponível em: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf. Acesso em: 15 jun. 2024.
APA
Nishimura, A. L., Mitne Neto, M., Silva, H. C. A. da, Richieri-Costa, A., Middleton, S., Cascio, D., et al. (2004). A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American Journal of Human Genetics, 75( 5), 822-831. Recuperado de http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
NLM
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2024 jun. 15 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Vancouver
Nishimura AL, Mitne Neto M, Silva HCA da, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM de, Gillingwater T, Webb J, Skehel P, Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis [Internet]. American Journal of Human Genetics. 2004 ; 75( 5): 822-831.[citado 2024 jun. 15 ] Available from: http://www.journals.uchicago.edu/AJHG/journal/issues/v75n5/41577/41577.web.pdf
Trabalho de evento-resumo periodico
Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD (2003)
Varela, M. C.; Kok, Fernando; Kohl, I.; Castro, C. I. E.; Koiffmann, Celia Priszkulnik
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: SÍNDROME DE ANGELMAN
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ABNT
VARELA, M. C. et al. Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Varela, M. C., Kok, F., Kohl, I., Castro, C. I. E., & Koiffmann, C. P. (2003). Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Varela MC, Kok F, Kohl I, Castro CIE, Koiffmann CP. Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. 2003 ; 73( 5): 319.[citado 2024 jun. 15 ]
Vancouver
Varela MC, Kok F, Kohl I, Castro CIE, Koiffmann CP. Phenotype and behavior in patients with Algelman syndrome: comparisons between the different classes of deletions and between patients with a deletion and with UPD. American Journal of Human Genetics. 2003 ; 73( 5): 319.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders (2003)
Moreira, E. S.; Orabona, G. M.; Avelar, L. O.; Vadasz, E.; Biason, L. M.; Takahashi, V. N. O.; Abe, K.; Vianna-Morgante, Angela M ; Passos-Bueno, Maria Rita
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assuntos: CROMOSSOMOS (ANOMALIAS), AUTISMO
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ABNT
MOREIRA, E. S. et al. Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Moreira, E. S., Orabona, G. M., Avelar, L. O., Vadasz, E., Biason, L. M., Takahashi, V. N. O., et al. (2003). Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Moreira ES, Orabona GM, Avelar LO, Vadasz E, Biason LM, Takahashi VNO, Abe K, Vianna-Morgante AM, Passos-Bueno MR. Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. 2003 ; no 2003( 5): 520.[citado 2024 jun. 15 ]
Vancouver
Moreira ES, Orabona GM, Avelar LO, Vadasz E, Biason LM, Takahashi VNO, Abe K, Vianna-Morgante AM, Passos-Bueno MR. Molecular and cytogenetic analyses in Brazilian patients affected by autism spectrum disorders. American Journal of Human Genetics. 2003 ; no 2003( 5): 520.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Possible digenic for limb girdle muscular dystropy (2003)
Starling, Alessandra; Paula, F de; Pavanello, Rita de Cássia M.; Vainzof, Mariz ; Zatz, Mayana
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: DISTROFIA MUSCULAR
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ABNT
STARLING, Alessandra et al. Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Starling, A., Paula, F. de, Pavanello, R. de C. M., Vainzof, M., & Zatz, M. (2003). Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Starling A, Paula F de, Pavanello R de CM, Vainzof M, Zatz M. Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. 2003 ; 73( 5): 481.[citado 2024 jun. 15 ]
Vancouver
Starling A, Paula F de, Pavanello R de CM, Vainzof M, Zatz M. Possible digenic for limb girdle muscular dystropy. American Journal of Human Genetics. 2003 ; 73( 5): 481.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B) (2003)
Abe, Kikue Terada; Magrin, M. T.; Pavanello, Rita de Cássia M.; Marchiori, Paulo Eurípedes; Zatz, Mayana
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: IB, FM
Assuntos: DOENÇAS HEREDITÁRIAS, MUTAÇÃO GENÉTICA
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ABNT
ABE, Kikue Terada et al. Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B). American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Abe, K. T., Magrin, M. T., Pavanello, R. de C. M., Marchiori, P. E., & Zatz, M. (2003). Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B). American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Abe KT, Magrin MT, Pavanello R de CM, Marchiori PE, Zatz M. Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B). American Journal of Human Genetics. 2003 ; 73( 5): 567.[citado 2024 jun. 15 ]
Vancouver
Abe KT, Magrin MT, Pavanello R de CM, Marchiori PE, Zatz M. Novel mutations and genotype:phenotype correlation in Charlot-Marie-Tooth type 1B (CMT1B). American Journal of Human Genetics. 2003 ; 73( 5): 567.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Alcohol dehydrogenase 4 polymorphisms as a risk factor for alcoholism in Brazilian patients (2003)
Zatz, Mayana ; Guindalini, Camila; Scivoletto, Sandra; Ferreira, R. G. M.; Breen, G.; Ziberman, M.; Peluso, M. A.; Quedas, Elisangela; Nishimura, Agnes L.
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: ALCOOLISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZATZ, Mayana et al. Alcohol dehydrogenase 4 polymorphisms as a risk factor for alcoholism in Brazilian patients. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Zatz, M., Guindalini, C., Scivoletto, S., Ferreira, R. G. M., Breen, G., Ziberman, M., et al. (2003). Alcohol dehydrogenase 4 polymorphisms as a risk factor for alcoholism in Brazilian patients. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Zatz M, Guindalini C, Scivoletto S, Ferreira RGM, Breen G, Ziberman M, Peluso MA, Quedas E, Nishimura AL. Alcohol dehydrogenase 4 polymorphisms as a risk factor for alcoholism in Brazilian patients. American Journal of Human Genetics. 2003 ; 73( 5): 524.[citado 2024 jun. 15 ]
Vancouver
Zatz M, Guindalini C, Scivoletto S, Ferreira RGM, Breen G, Ziberman M, Peluso MA, Quedas E, Nishimura AL. Alcohol dehydrogenase 4 polymorphisms as a risk factor for alcoholism in Brazilian patients. American Journal of Human Genetics. 2003 ; 73( 5): 524.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Reevalutation and fine mapping of a Brazilian pedigree reveals another family with Allan-Herndon-Dudley syndrome (2003)
Passos-Bueno, Maria Rita ; Zorick, Todd S.; Kleimann, S.; Zatz, Mayana ; Rosenberg, S.
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assuntos: RETARDO MENTAL SEVERO, MAPEAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita et al. Reevalutation and fine mapping of a Brazilian pedigree reveals another family with Allan-Herndon-Dudley syndrome. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Passos-Bueno, M. R., Zorick, T. S., Kleimann, S., Zatz, M., & Rosenberg, S. (2003). Reevalutation and fine mapping of a Brazilian pedigree reveals another family with Allan-Herndon-Dudley syndrome. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Passos-Bueno MR, Zorick TS, Kleimann S, Zatz M, Rosenberg S. Reevalutation and fine mapping of a Brazilian pedigree reveals another family with Allan-Herndon-Dudley syndrome. American Journal of Human Genetics. 2003 ; 73( 5): 502.[citado 2024 jun. 15 ]
Vancouver
Passos-Bueno MR, Zorick TS, Kleimann S, Zatz M, Rosenberg S. Reevalutation and fine mapping of a Brazilian pedigree reveals another family with Allan-Herndon-Dudley syndrome. American Journal of Human Genetics. 2003 ; 73( 5): 502.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene (2003)
Yamamoto, L. U.; Canovas, Marta; Pavanello, Rita de Cássia M.; Lima, B. L.; Paula, F de; Vieira, N.; Zatz, Mayana ; Vainzof, Mariz
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assuntos: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
YAMAMOTO, L. U. et al. Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene. American Journal of Human Genetics. [S.l.]: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Yamamoto, L. U., Canovas, M., Pavanello, R. de C. M., Lima, B. L., Paula, F. de, Vieira, N., et al. (2003). Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene. American Journal of Human Genetics. Instituto de Biociências, Universidade de São Paulo.
NLM
Yamamoto LU, Canovas M, Pavanello R de CM, Lima BL, Paula F de, Vieira N, Zatz M, Vainzof M. Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene. American Journal of Human Genetics. 2003 ; 73( 5): 556.[citado 2024 jun. 15 ]
Vancouver
Yamamoto LU, Canovas M, Pavanello R de CM, Lima BL, Paula F de, Vieira N, Zatz M, Vainzof M. Muscle proteins alteration in patients with mutations in the Fukutin-Related protein gene. American Journal of Human Genetics. 2003 ; 73( 5): 556.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
The recurrent basque mutation in Brazilian calpainopathy patients (2003)
Paula, F de; Sáenz, A.; Cobo, A. M.; Lopez de Munain, A.; Urtizberea, A.
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assuntos: DISTROFIA MUSCULAR, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PAULA, F de et al. The recurrent basque mutation in Brazilian calpainopathy patients. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Paula, F. de, Sáenz, A., Cobo, A. M., Lopez de Munain, A., & Urtizberea, A. (2003). The recurrent basque mutation in Brazilian calpainopathy patients. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Paula F de, Sáenz A, Cobo AM, Lopez de Munain A, Urtizberea A. The recurrent basque mutation in Brazilian calpainopathy patients. American Journal of Human Genetics. 2003 ; 73( 5): 580.[citado 2024 jun. 15 ]
Vancouver
Paula F de, Sáenz A, Cobo AM, Lopez de Munain A, Urtizberea A. The recurrent basque mutation in Brazilian calpainopathy patients. American Journal of Human Genetics. 2003 ; 73( 5): 580.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Conductive deafness, choanal atresia and Treacher Collins-like facial dysmorphia: Burn sybdrome or autosomal recessive TCS (2003)
Van Maldergem, L.; Splendore, Alessandra; Passos-Bueno, Maria Rita ; Desir, J.; Gillerot, Y.
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: IB
Assunto: DISOSTOSE MANDIBULOFACIAL
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ABNT
VAN MALDERGEM, L. et al. Conductive deafness, choanal atresia and Treacher Collins-like facial dysmorphia: Burn sybdrome or autosomal recessive TCS. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Van Maldergem, L., Splendore, A., Passos-Bueno, M. R., Desir, J., & Gillerot, Y. (2003). Conductive deafness, choanal atresia and Treacher Collins-like facial dysmorphia: Burn sybdrome or autosomal recessive TCS. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Van Maldergem L, Splendore A, Passos-Bueno MR, Desir J, Gillerot Y. Conductive deafness, choanal atresia and Treacher Collins-like facial dysmorphia: Burn sybdrome or autosomal recessive TCS. American Journal of Human Genetics. 2003 ; no 2003( 5): 285.[citado 2024 jun. 15 ]
Vancouver
Van Maldergem L, Splendore A, Passos-Bueno MR, Desir J, Gillerot Y. Conductive deafness, choanal atresia and Treacher Collins-like facial dysmorphia: Burn sybdrome or autosomal recessive TCS. American Journal of Human Genetics. 2003 ; no 2003( 5): 285.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Case-control, TDT and gene-gene interaction analysis of MTHFR, BCL3 and TGFa genes in nonsyndromic clefting Brazilian families (2003)
Gaspar, D. A.; Matioli, Sergio Russo ; Pavanello, Rita de Cássia M.; Araujo, B. C.; André, Márcia; Steman, Silvio; Alonso, N.; Passos-Bueno, Maria Rita
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: IB, FO
Assuntos: LÁBIO FISSURADO, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GASPAR, D. A. et al. Case-control, TDT and gene-gene interaction analysis of MTHFR, BCL3 and TGFa genes in nonsyndromic clefting Brazilian families. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Gaspar, D. A., Matioli, S. R., Pavanello, R. de C. M., Araujo, B. C., André, M., Steman, S., et al. (2003). Case-control, TDT and gene-gene interaction analysis of MTHFR, BCL3 and TGFa genes in nonsyndromic clefting Brazilian families. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Gaspar DA, Matioli SR, Pavanello R de CM, Araujo BC, André M, Steman S, Alonso N, Passos-Bueno MR. Case-control, TDT and gene-gene interaction analysis of MTHFR, BCL3 and TGFa genes in nonsyndromic clefting Brazilian families. American Journal of Human Genetics. 2003 ; no 2003( 5 suppl.): 523.[citado 2024 jun. 15 ]
Vancouver
Gaspar DA, Matioli SR, Pavanello R de CM, Araujo BC, André M, Steman S, Alonso N, Passos-Bueno MR. Case-control, TDT and gene-gene interaction analysis of MTHFR, BCL3 and TGFa genes in nonsyndromic clefting Brazilian families. American Journal of Human Genetics. 2003 ; no 2003( 5 suppl.): 523.[citado 2024 jun. 15 ]
Trabalho de evento-resumo periodico
Analysis of the interleukin-1 gene complex in LOAD brazilian patients (2003)
Nishimura, Agnes L.; Mury, F. B.; Mitne-Neto, M.; Oliveira, J. R. M.; Nitrini, Ricardo; Bahia, Valéria Santoro; Brito-Marques, Paulo Roberto; Neri, M.; Fertuzinhos, S. M. M.; Zatz, Mayana
Fonte: American Journal of Human Genetics. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidades: IB, FM
Assuntos: TRANSTORNOS MENTAIS, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NISHIMURA, Agnes L. et al. Analysis of the interleukin-1 gene complex in LOAD brazilian patients. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 15 jun. 2024. , 2003
APA
Nishimura, A. L., Mury, F. B., Mitne-Neto, M., Oliveira, J. R. M., Nitrini, R., Bahia, V. S., et al. (2003). Analysis of the interleukin-1 gene complex in LOAD brazilian patients. American Journal of Human Genetics. Baltimore: Instituto de Biociências, Universidade de São Paulo.
NLM
Nishimura AL, Mury FB, Mitne-Neto M, Oliveira JRM, Nitrini R, Bahia VS, Brito-Marques PR, Neri M, Fertuzinhos SMM, Zatz M. Analysis of the interleukin-1 gene complex in LOAD brazilian patients. American Journal of Human Genetics. 2003 ; 73( 5): 468.[citado 2024 jun. 15 ]
Vancouver
Nishimura AL, Mury FB, Mitne-Neto M, Oliveira JRM, Nitrini R, Bahia VS, Brito-Marques PR, Neri M, Fertuzinhos SMM, Zatz M. Analysis of the interleukin-1 gene complex in LOAD brazilian patients. American Journal of Human Genetics. 2003 ; 73( 5): 468.[citado 2024 jun. 15 ]

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