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Artigo de periodico
Exomic variants of an elderly cohort of Brazilians in the ABraOM database (2017)
Naslavsky, Michel ; Yamamoto, Guilherme Lopes ; Almeida, Tatiana Ferreira de; Ezquina, Suzana ; Sunaga, Daniele Yumi; Pho, Nam; Bozoklian, Daniel; Sandberg, Tatiana Orli Milkewitz ; Brito, Luciano Abreu; Magalhães, Monize L ; Bernardo, Danilo ; Amaro Junior, Edson ; Duarte, Yeda Aparecida de Oliveira ; Lebrão, Maria Lúcia ; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: Human Mutation. Unidades: IB, FM, EE
Subjects: GENÉTICA MÉDICA, GENÉTICA DE POPULAÇÕES, ENVELHECIMENTO, ESTUDOS DE COORTES, ESTUDOS LONGITUDINAIS, SAÚDE DO IDOSO
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ABNT
NASLAVSKY, Michel et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human Mutation, p. 1-13, 2017Tradução . . Disponível em: https://doi.org/10.1002/humu.23220. Acesso em: 13 nov. 2024.
APA
Naslavsky, M., Yamamoto, G. L., Almeida, T. F. de, Ezquina, S., Sunaga, D. Y., Pho, N., et al. (2017). Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human Mutation, 1-13. doi:10.1002/humu.23220
NLM
Naslavsky M, Yamamoto GL, Almeida TF de, Ezquina S, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Magalhães ML, Bernardo D, Amaro Junior E, Duarte YA de O, Lebrão ML, Passos-Bueno MR, Zatz M. Exomic variants of an elderly cohort of Brazilians in the ABraOM database [Internet]. Human Mutation. 2017 ; 1-13.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.23220
Vancouver
Naslavsky M, Yamamoto GL, Almeida TF de, Ezquina S, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Magalhães ML, Bernardo D, Amaro Junior E, Duarte YA de O, Lebrão ML, Passos-Bueno MR, Zatz M. Exomic variants of an elderly cohort of Brazilians in the ABraOM database [Internet]. Human Mutation. 2017 ; 1-13.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.23220
Artigo de periodico
Expanding the Molecular and Clinical Phenotype of SSR4-CDG (2015)
Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Wong, Jonathan T. S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Scheuerle, Angela E.; Cathey, Sara; Kok, Fernando; Gibson, James B.; Freeze, Hudson H.
Source: Human Mutation. Unidades: FM, IB
Subjects: ERROS INATOS DO METABOLISMO DOS CARBOIDRATOS, RECEPTORES, ANORMALIDADES DO SISTEMA NERVOSO, DOENÇAS METABÓLICAS
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ABNT
NG, Bobby G. et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation, v. 36, n. 11, p. on-line, 2015Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf. Acesso em: 13 nov. 2024.
APA
Ng, B. G., Raymond, K., Kircher, M., Buckingham, K. J., Wood, T., Shendure, J., et al. (2015). Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation, 36( 11), on-line. doi:10.1002/humu.22856
NLM
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG [Internet]. Human Mutation. 2015 ; 36( 11): on-line.[citado 2024 nov. 13 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf
Vancouver
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JTS, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH. Expanding the Molecular and Clinical Phenotype of SSR4-CDG [Internet]. Human Mutation. 2015 ; 36( 11): on-line.[citado 2024 nov. 13 ] Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf
Artigo de periodico
Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat (2015)
Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel ; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana ; Seruca, Raquel; Passos-Bueno, Maria Rita
Source: Human Mutation. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, VARIAÇÃO GENÉTICA, LÁBIO FISSURADO, NEOPLASIAS GÁSTRICAS
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ABNT
BRITO, Luciano Abreu et al. Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat. Human Mutation, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1002/humu.22827. Acesso em: 13 nov. 2024.
APA
Brito, L. A., Yamamoto, G. L., Melo, S., Malcher, C., Ferreira, S. G., Figueiredo, J., et al. (2015). Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat. Human Mutation, on-line. doi:10.1002/humu.22827
NLM
Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky M, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR. Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat [Internet]. Human Mutation. 2015 ; on-line.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.22827
Vancouver
Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky M, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR. Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palat [Internet]. Human Mutation. 2015 ; on-line.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.22827
Artigo de periodico
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion (2009)
Denora, Paola S; Schlesinger, David; Casali, Carlo; Kok, Fernando; Tessa, Alessandra; Boukhris, Amir; Azzedine, Hamid; Dotti, Maria Teresa; Bruno, Claudio; Truchetto, Jeremy; Biancheri, Roberta; Fedirko, Estelle; Di Rocco, Maja; Bueno, Clarissa; Malandrini, Alessandro; Battini, Roberta; Sickl, Elisabeth; Leva, Maria Fulvia de; Boespflug-Tanguy, Odile; Silvestri, Gabriella; Simonati, Alessandro; Said, Edith; Ferbert, Andreas; Criscuolo, Chiara; Heinimann, Karl; Modoni, Anna; Weber, Peter; Palmeri, Silvia; Plasilova, Martina; Pauri, Flavia; Cassandrini, Denise; Battisti, Carla; Pini, Antonella; Tosetti, Michela; Hauser, Erwin; Masciullo, Marcella; Di Fabio, Roberto; Piccolo, Francesca; Denis, Elodie; Cioni, Giovanni; Massa, Roberto; Giustina, Elvio Della; Calabrese, Olga; Melone, Marina A. B; De Michele, Giuseppe; Federico, Antonio; Bertini, Enrico; Durr, Alexandra; Brockmann, Knut; Knaap, Marjo S. van der; Zatz, Mayana ; Filla, Alessandro; Brice, Alexis; Stevanin, Giovanni; Santorelli, Filippo M
Source: Human Mutation. Unidade: IB
Subjects: DELEÇÃO DE GENES, MUTAÇÃO GENÉTICA
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ABNT
DENORA, Paola S et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human Mutation, v. 30, n. 3, p. E500-E519, 2009Tradução . . Disponível em: https://doi.org/10.1002/humu.20945. Acesso em: 13 nov. 2024.
APA
Denora, P. S., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., et al. (2009). Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human Mutation, 30( 3), E500-E519. doi:10.1002/humu.20945
NLM
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, Leva MF de, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Giustina ED, Calabrese O, Melone MAB, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, Knaap MS van der, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion [Internet]. Human Mutation. 2009 ; 30( 3): E500-E519.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.20945
Vancouver
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, Leva MF de, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Giustina ED, Calabrese O, Melone MAB, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, Knaap MS van der, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion [Internet]. Human Mutation. 2009 ; 30( 3): E500-E519.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.20945
Artigo de periodico
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations (2005)
Frosk, Patrick; Greenberg, Cheryl R.; Tennese, Alysa A. P.; Lamont, Ryan; Nylen, Edward; Hirst, Cheryl; Frappier, Danielle; Rolsin, Micole M.; Zaik, Michaela; Bushby, Kate; Straub, Volker; Zatz, Mayana ; Paula, Flavia de; Morgan, Kenneth; Fujiwara, T. Mary; Wrogemann, Klaus
Source: Human Mutation. Unidade: IB
Subjects: DISTROFIA MUSCULAR, GENÉTICA MÉDICA
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ABNT
FROSK, Patrick et al. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Human Mutation, v. 25, n. 1, p. 38-44, 2005Tradução . . Disponível em: https://doi.org/10.1002/humu.20110. Acesso em: 13 nov. 2024.
APA
Frosk, P., Greenberg, C. R., Tennese, A. A. P., Lamont, R., Nylen, E., Hirst, C., et al. (2005). The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Human Mutation, 25( 1), 38-44. doi:10.1002/humu.20110
NLM
Frosk P, Greenberg CR, Tennese AAP, Lamont R, Nylen E, Hirst C, Frappier D, Rolsin MM, Zaik M, Bushby K, Straub V, Zatz M, Paula F de, Morgan K, Fujiwara TM, Wrogemann K. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations [Internet]. Human Mutation. 2005 ; 25( 1): 38-44.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.20110
Vancouver
Frosk P, Greenberg CR, Tennese AAP, Lamont R, Nylen E, Hirst C, Frappier D, Rolsin MM, Zaik M, Bushby K, Straub V, Zatz M, Paula F de, Morgan K, Fujiwara TM, Wrogemann K. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations [Internet]. Human Mutation. 2005 ; 25( 1): 38-44.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/humu.20110
Artigo de periodico
Identification of 8 new mutations in Brazilian families with Marfan Syndrome (1998)
Perez, Ana B. A; Pereira, Lygia da Veiga ; Brunoni, Décio ; Zatz, Mayana ; Passos-Bueno, Maria Rita
Source: Human Mutation. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, DOENÇAS DO TECIDO CONJUNTIVO, GLICOPROTEÍNAS, POLIMORFISMO
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ABNT
PEREZ, Ana B. A et al. Identification of 8 new mutations in Brazilian families with Marfan Syndrome. Human Mutation, v. 13, n. 1, p. 84-84, 1998Tradução . . Disponível em: https://doi.org/10.1002/(SICI)1098-1004(1999)13:1%3C84::AID-HUMU15%3E3.0.CO;2-U. Acesso em: 13 nov. 2024.
APA
Perez, A. B. A., Pereira, L. da V., Brunoni, D., Zatz, M., & Passos-Bueno, M. R. (1998). Identification of 8 new mutations in Brazilian families with Marfan Syndrome. Human Mutation, 13( 1), 84-84. doi:10.1002/(SICI)1098-1004(1999)13:1%3C84::AID-HUMU15%3E3.0.CO;2-
NLM
Perez ABA, Pereira L da V, Brunoni D, Zatz M, Passos-Bueno MR. Identification of 8 new mutations in Brazilian families with Marfan Syndrome [Internet]. Human Mutation. 1998 ; 13( 1): 84-84.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/(SICI)1098-1004(1999)13:1%3C84::AID-HUMU15%3E3.0.CO;2-U
Vancouver
Perez ABA, Pereira L da V, Brunoni D, Zatz M, Passos-Bueno MR. Identification of 8 new mutations in Brazilian families with Marfan Syndrome [Internet]. Human Mutation. 1998 ; 13( 1): 84-84.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1002/(SICI)1098-1004(1999)13:1%3C84::AID-HUMU15%3E3.0.CO;2-U

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