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Artigo de periodico
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice (2013)
Keller, Annika; Westenberger, Ana; Sobrido, Maria J; Zatz, Mayana
Source: Nature Genetics. Unidade: IB
Subjects: MUTAÇÃO GENÉTICA, GENÉTICA MÉDICA
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ABNT
KELLER, Annika et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nature Genetics, v. 45, n. 9, p. 2013. online, 2013Tradução . . Disponível em: https://doi.org/10.1038/ng.2723. Acesso em: 27 nov. 2025.
APA
Keller, A., Westenberger, A., Sobrido, M. J., & Zatz, M. (2013). Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nature Genetics, 45( 9), 2013. online. doi:10.1038/ng.2723
NLM
Keller A, Westenberger A, Sobrido MJ, Zatz M. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice [Internet]. Nature Genetics. 2013 ; 45( 9): 2013. online.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng.2723
Vancouver
Keller A, Westenberger A, Sobrido MJ, Zatz M. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice [Internet]. Nature Genetics. 2013 ; 45( 9): 2013. online.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng.2723
Artigo de periodico
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability (2006)
Shaw-Smith, Charles; Pittman, Alan M.; Willatt, Lionel; Martin, Howard; Rickman, Lisa; Gribble, Susan; Curley, Rebecca; Cumming, Sally; Dunn, Carolyn; Kalaitzopoulos, Dimitrios; Porter, Keith R.; Prigmore, Elena; Krepischi, Ana Cristina Victorino ; Varela, Monica Castro; Koiffmann, Celia Priszkulnik ; Lees, Andrew J.; Rosenberg, Carla ; Firth, Helen V.; Silva, Rohan de; Carter, Nigel P.
Source: Nature Genetics. Unidade: IB
Subjects: ANORMALIDADES CROMOSSÔMICAS, MALFORMAÇÕES, GENÉTICA MÉDICA, DELEÇÃO DE GENES
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ABNT
SHAW-SMITH, Charles et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nature Genetics, v. 38, n. 9, p. 1032-1037, 2006Tradução . . Disponível em: https://doi.org/10.1038/ng1858. Acesso em: 27 nov. 2025.
APA
Shaw-Smith, C., Pittman, A. M., Willatt, L., Martin, H., Rickman, L., Gribble, S., et al. (2006). Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nature Genetics, 38( 9), 1032-1037. doi:10.1038/ng1858
NLM
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter KR, Prigmore E, Krepischi ACV, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, Silva R de, Carter NP. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability [Internet]. Nature Genetics. 2006 ; 38( 9): 1032-1037.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng1858
Vancouver
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter KR, Prigmore E, Krepischi ACV, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, Silva R de, Carter NP. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability [Internet]. Nature Genetics. 2006 ; 38( 9): 1032-1037.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng1858
Artigo de periodico-carta/editorial
Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta] (2000)
Moreira, Eloisa S.; Wiltshire, Tim J.; Faulkner, Georgine; Nilforoushan, Antje; Vainzof, Mariz ; Suzuki, Oscar T.; Valle, Giorgio; Reeves, Roger; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Jenne, Dieter E.
Source: Nature Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
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ABNT
MOREIRA, Eloisa S. et al. Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]. Nature Genetics. New York: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 27 nov. 2025. , 2000
APA
Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., et al. (2000). Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]. Nature Genetics. New York: Instituto de Biociências, Universidade de São Paulo.
NLM
Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]. Nature Genetics. 2000 ; 24 163-166.[citado 2025 nov. 27 ]
Vancouver
Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]. Nature Genetics. 2000 ; 24 163-166.[citado 2025 nov. 27 ]
Artigo de periodico
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly (1999)
Wallis, Deeann E.; Roessler, Erich; Hehr, Ute; Nanni, Luisa; Wiltshire, Tim; Richieri-Costa, Antonio; Gillessen-Kaesbach, Gabriele; Zackai, Elaine H.; Rommens, Johanna; Muenke, Maximilian
Source: Nature Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
WALLIS, Deeann E. et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nature Genetics, v. 22, n. 2, p. 196-198, 1999Tradução . . Disponível em: https://doi.org/10.1038/9718. Acesso em: 27 nov. 2025.
APA
Wallis, D. E., Roessler, E., Hehr, U., Nanni, L., Wiltshire, T., Richieri-Costa, A., et al. (1999). Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nature Genetics, 22( 2), 196-198. doi:10.1038/9718
NLM
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly [Internet]. Nature Genetics. 1999 ; 22( 2): 196-198.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/9718
Vancouver
Wallis DE, Roessler E, Hehr U, Nanni L, Wiltshire T, Richieri-Costa A, Gillessen-Kaesbach G, Zackai EH, Rommens J, Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly [Internet]. Nature Genetics. 1999 ; 22( 2): 196-198.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/9718
Artigo de periodico
A gene related to Caenorhabditis elegans spermatogenes is factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B (1998)
Bashir, Rumaisa; Britton, Stephen; Strachan, Tom; Keers, Sharon; Vafiadaki, Elizabeth; Lako, Majlinda; Richard, Isabelle; Marchand, Sylvie; Bourg, Nathalie; Argov, Zohar; Sadeh, Menachem; Mahjneh, Ibrahim; Marconi, Giampiero; Passos-Bueno, Maria Rita ; Moreira, Eloísa de Sá; Zatz, Mayana ; Beckmann, Jacques S.; Bushby, Kate
Source: Nature Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BASHIR, Rumaisa et al. A gene related to Caenorhabditis elegans spermatogenes is factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics, v. 20, p. 37-42, 1998Tradução . . Disponível em: https://doi.org/10.1038/1689. Acesso em: 27 nov. 2025.
APA
Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., et al. (1998). A gene related to Caenorhabditis elegans spermatogenes is factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics, 20, 37-42. doi:10.1038/1689
NLM
Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira E de S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenes is factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [Internet]. Nature Genetics. 1998 ; 20 37-42.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/1689
Vancouver
Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira E de S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenes is factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [Internet]. Nature Genetics. 1998 ; 20 37-42.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/1689
Artigo de periodico
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome (1997)
Pereira, Lygia da Veiga ; Andrikopoulos, Konstantinos; Tian, Jenny; Lee, Sui Ying; Keene, Douglas R; Ono, Robert; Reinhardt, Dieter P; Sakai, Lynn Y; Biery, Nancy Jensen; Bunton, Tracie; Dietz, Harry C; Ramirez, Francesco
Source: Nature Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PEREIRA, Lygia da Veiga et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genetics, v. 17, p. 218-222, 1997Tradução . . Disponível em: https://doi.org/10.1038/ng1097-218. Acesso em: 27 nov. 2025.
APA
Pereira, L. da V., Andrikopoulos, K., Tian, J., Lee, S. Y., Keene, D. R., Ono, R., et al. (1997). Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genetics, 17, 218-222. doi:10.1038/ng1097-218
NLM
Pereira L da V, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome [Internet]. Nature Genetics. 1997 ; 17 218-222.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng1097-218
Vancouver
Pereira L da V, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome [Internet]. Nature Genetics. 1997 ; 17 218-222.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng1097-218
Artigo de periodico
Autosomal recessive limb-girdle muscular dystrophy, lgmd2f, is caused by a mutation in the 'DELTA'- sarcoglycan gene (1996)
Nigro, V; Moreira, E S; Piluso, G; Vainzof, Mariz ; Belsito, A; Politano, L; Puca, A A; Passos-Bueno, Maria Rita ; Zatz, Mayana
Source: Nature Genetics. Unidade: IB
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NIGRO, V et al. Autosomal recessive limb-girdle muscular dystrophy, lgmd2f, is caused by a mutation in the 'DELTA'- sarcoglycan gene. Nature Genetics, v. 14, n. 2 , p. 195-8, 1996Tradução . . Acesso em: 27 nov. 2025.
APA
Nigro, V., Moreira, E. S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., et al. (1996). Autosomal recessive limb-girdle muscular dystrophy, lgmd2f, is caused by a mutation in the 'DELTA'- sarcoglycan gene. Nature Genetics, 14( 2 ), 195-8.
NLM
Nigro V, Moreira ES, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M. Autosomal recessive limb-girdle muscular dystrophy, lgmd2f, is caused by a mutation in the 'DELTA'- sarcoglycan gene. Nature Genetics. 1996 ;14( 2 ): 195-8.[citado 2025 nov. 27 ]
Vancouver
Nigro V, Moreira ES, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M. Autosomal recessive limb-girdle muscular dystrophy, lgmd2f, is caused by a mutation in the 'DELTA'- sarcoglycan gene. Nature Genetics. 1996 ;14( 2 ): 195-8.[citado 2025 nov. 27 ]
Artigo de periodico
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 (1995)
Robin, N H; Feldman, G J; Aronson, A L; Mitchell, H F; Weksberg, R; Leonard, C O; Burton, B K; Josephson, K D; Laxova, R; Aleck, K A; Allanson, J E
Source: Nature Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROBIN, N H et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics, v. 11, n. 4, p. 459-61, 1995Tradução . . Disponível em: https://doi.org/10.1038/ng1295-459. Acesso em: 27 nov. 2025.
APA
Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., et al. (1995). Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics, 11( 4), 459-61. doi:10.1038/ng1295-459
NLM
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 [Internet]. Nature Genetics. 1995 ;11( 4): 459-61.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng1295-459
Vancouver
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2 [Internet]. Nature Genetics. 1995 ;11( 4): 459-61.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/ng1295-459

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