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Artigo de periodico
Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants (2024)
Torres, William Bertani ; Lezirovitz, Karina ; Coutinho, Danillo Alencar ; Pardono, Eliete; Costa, Silvia Souza da; Antunes, Larissa do Nascimento; Oliveira, Judite de; Otto, Paulo A ; Pingault, Véronique ; Mingroni Netto, Regina Celia
Fonte: Audiology Research. Unidade: IB
Assuntos: PERDA AUDITIVA, SURDEZ, GENÉTICA MOLECULAR, MUTAÇÃO GENÉTICA, PIGMENTOS
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ABNT
TORRES, William Bertani et al. Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants. Audiology Research, v. 14, n. 1, p. 9-25, 2024Tradução . . Disponível em: https://doi.org/10.3390/audiolres14010002. Acesso em: 26 set. 2024.
APA
Torres, W. B., Lezirovitz, K., Coutinho, D. A., Pardono, E., Costa, S. S. da, Antunes, L. do N., et al. (2024). Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants. Audiology Research, 14( 1), 9-25. doi:10.3390/audiolres14010002
NLM
Torres WB, Lezirovitz K, Coutinho DA, Pardono E, Costa SS da, Antunes L do N, Oliveira J de, Otto PA, Pingault V, Mingroni Netto RC. Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants [Internet]. Audiology Research. 2024 ; 14( 1): 9-25.[citado 2024 set. 26 ] Available from: https://doi.org/10.3390/audiolres14010002
Vancouver
Torres WB, Lezirovitz K, Coutinho DA, Pardono E, Costa SS da, Antunes L do N, Oliveira J de, Otto PA, Pingault V, Mingroni Netto RC. Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants [Internet]. Audiology Research. 2024 ; 14( 1): 9-25.[citado 2024 set. 26 ] Available from: https://doi.org/10.3390/audiolres14010002
Artigo de periodico
A multi-ethnic reference panel to impute HLA classical and non-classical class I alleles in admixed samples: testing imputation accuracy in an admixed sample from Brazil (2024)
Silva, Nayane S. B ; Bourguiba-Hachemi, Sonia ; Ciriaco, Viviane A. O; Knorst, Stefan H. Y; Carmo, Ramon T ; Masotti, Cibele ; Meyer, Diogo ; Naslavsky, Michel ; Duarte, Yeda Aparecida de Oliveira ; Zatz, Mayana ; Gourraud, Pierre-Antoine ; Limou, Sophie ; Castelli, Erick C ; Vince, Nicolas
Fonte: HLA. Unidades: IB, HU
Assuntos: GENOMAS, ANTÍGENOS HLA, DOENÇAS AUTOIMUNES
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ABNT
SILVA, Nayane S. B et al. A multi-ethnic reference panel to impute HLA classical and non-classical class I alleles in admixed samples: testing imputation accuracy in an admixed sample from Brazil. HLA, v. 103, n. art. 15543, 2024Tradução . . Disponível em: https://doi.org/10.1111/tan.15543. Acesso em: 26 set. 2024.
APA
Silva, N. S. B., Bourguiba-Hachemi, S., Ciriaco, V. A. O., Knorst, S. H. Y., Carmo, R. T., Masotti, C., et al. (2024). A multi-ethnic reference panel to impute HLA classical and non-classical class I alleles in admixed samples: testing imputation accuracy in an admixed sample from Brazil. HLA, 103( art. 15543). doi:10.1111/tan.15543
NLM
Silva NSB, Bourguiba-Hachemi S, Ciriaco VAO, Knorst SHY, Carmo RT, Masotti C, Meyer D, Naslavsky M, Duarte YA de O, Zatz M, Gourraud P-A, Limou S, Castelli EC, Vince N. A multi-ethnic reference panel to impute HLA classical and non-classical class I alleles in admixed samples: testing imputation accuracy in an admixed sample from Brazil [Internet]. HLA. 2024 ; 103( art. 15543):[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.15543
Vancouver
Silva NSB, Bourguiba-Hachemi S, Ciriaco VAO, Knorst SHY, Carmo RT, Masotti C, Meyer D, Naslavsky M, Duarte YA de O, Zatz M, Gourraud P-A, Limou S, Castelli EC, Vince N. A multi-ethnic reference panel to impute HLA classical and non-classical class I alleles in admixed samples: testing imputation accuracy in an admixed sample from Brazil [Internet]. HLA. 2024 ; 103( art. 15543):[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.15543
Artigo de periodico
Report on the SNP-HLA Reference Consortium (SHLARC) component (2023)
Silva, Nayane S. B; Bourguiba-Hachemi, Sonia; Douillard, Venceslas; Koskela, Satu; Degenhardt, Frauke; Clancy, Jonna; Limou, Sophie; Meyer, Diogo ; Masotti, Cibele; Knorst, Stefan; Naslavsky, Michel ; Franke, Andre; Castelli, Erick C; Gourraud, Pierre-Antoine; Vince, Nicolas
Fonte: HLA. Nome do evento: International HLA and Immunogenetics Workshop. Unidade: IB
Assuntos: IMUNOGENÉTICA, GENÔMICA
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ABNT
SILVA, Nayane S. B et al. Report on the SNP-HLA Reference Consortium (SHLARC) component. HLA, 2023Tradução . . Disponível em: https://doi.org/10.1111/tan.15293. Acesso em: 26 set. 2024.
APA
Silva, N. S. B., Bourguiba-Hachemi, S., Douillard, V., Koskela, S., Degenhardt, F., Clancy, J., et al. (2023). Report on the SNP-HLA Reference Consortium (SHLARC) component. HLA. doi:10.1111/tan.15293
NLM
Silva NSB, Bourguiba-Hachemi S, Douillard V, Koskela S, Degenhardt F, Clancy J, Limou S, Meyer D, Masotti C, Knorst S, Naslavsky M, Franke A, Castelli EC, Gourraud P-A, Vince N. Report on the SNP-HLA Reference Consortium (SHLARC) component [Internet]. HLA. 2023 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.15293
Vancouver
Silva NSB, Bourguiba-Hachemi S, Douillard V, Koskela S, Degenhardt F, Clancy J, Limou S, Meyer D, Masotti C, Knorst S, Naslavsky M, Franke A, Castelli EC, Gourraud P-A, Vince N. Report on the SNP-HLA Reference Consortium (SHLARC) component [Internet]. HLA. 2023 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.15293
Artigo de periodico
Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds (2023)
Silva, Nayane Dos Santos Brito ; Souza, Andreia Da Silva ; Andrade, Heloisa De Souza ; Pereira, Raphaela Neto; Castro, Camila Ferreira Bannwart ; Vince, Nicolas ; Limou, Sophie ; Naslavsky, Michel ; Zatz, Mayana ; Duarte, Yeda Aparecida de Oliveira ; Mendes Junior, Celso Teixeira ; Castelli, Erick Da Cruz
Fonte: HLA: immune response genetics. Unidades: IB, EE, FFCLRP, FMRP
Assuntos: GENOMAS, GENES, GENEALOGIA
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ABNT
SILVA, Nayane Dos Santos Brito et al. Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds. HLA: immune response genetics, v. 101, n. 6, p. 634-646, 2023Tradução . . Disponível em: https://doi.org/10.1111/tan.15043. Acesso em: 26 set. 2024.
APA
Silva, N. D. S. B., Souza, A. D. S., Andrade, H. D. S., Pereira, R. N., Castro, C. F. B., Vince, N., et al. (2023). Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds. HLA: immune response genetics, 101( 6), 634-646. doi:10.1111/tan.15043
NLM
Silva NDSB, Souza ADS, Andrade HDS, Pereira RN, Castro CFB, Vince N, Limou S, Naslavsky M, Zatz M, Duarte YA de O, Mendes Junior CT, Castelli EDC. Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds [Internet]. HLA: immune response genetics. 2023 ; 101( 6): 634-646.[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.15043
Vancouver
Silva NDSB, Souza ADS, Andrade HDS, Pereira RN, Castro CFB, Vince N, Limou S, Naslavsky M, Zatz M, Duarte YA de O, Mendes Junior CT, Castelli EDC. Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds [Internet]. HLA: immune response genetics. 2023 ; 101( 6): 634-646.[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.15043
Artigo de periodico
Updated consensus guidelines on the management of Phelan–McDermid syndrome (2023)
Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D ; Berry-Kravis, Elizabeth; Soorya, Latha Valluripalli; Thurm, Audrey ; Bernstein, Jonathan A ; Asante-Otoo, Afua; Bennett Jr, William E; Betancur, Catalina ; Brickhouse, Tegwyn H; Passos-Bueno, Maria Rita
Fonte: American Journal of Medical Genetics. Part A. Unidade: IB
Assuntos: GENÉTICA MÉDICA, NEUROGENÉTICA
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ABNT
SRIVASTAVA, Siddharth et al. Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, v. 191, n. 8, p. 2015-2044, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63312. Acesso em: 26 set. 2024.
APA
Srivastava, S., Sahin, M., Buxbaum, J. D., Berry-Kravis, E., Soorya, L. V., Thurm, A., et al. (2023). Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics. Part A, 191( 8), 2015-2044. doi:10.1002/ajmg.a.63312
NLM
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2024 set. 26 ] Available from: https://doi.org/10.1002/ajmg.a.63312
Vancouver
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett Jr WE, Betancur C, Brickhouse TH, Passos-Bueno MR. Updated consensus guidelines on the management of Phelan–McDermid syndrome [Internet]. American Journal of Medical Genetics. Part A. 2023 ;191( 8): 2015-2044.[citado 2024 set. 26 ] Available from: https://doi.org/10.1002/ajmg.a.63312
Artigo de periodico-carta/editorial
Correction: the oldest unvaccinated Covid-19 survivors in South America (2022)
Castro, Mateus Vidigal de ; Silva, Moníze Valéria Ramos da ; Naslavsky, Michel ; Scliar, Marilia O ; Nunes, Kelly ; Passos-Bueno, Maria Rita ; Magawa, Jhosiene Yukari; Adami, Flávia L ; Moretti, Ana Iochabel Soares ; Oliveira, Vivian L. de; Boscardin, Silvia Beatriz ; Cunha Neto, Edecio ; Kalil Filho, Jorge Elias ; Santos, Keity Souza ; Zatz, Mayana ; Jouanguy, Emmanuelle ; Bastard, Paul ; Casanova, Jean-Laurent ; Vega, Maruricio Quiñones; Acosta, Patricia Sosa ; Guedes, Jessica S. de; Almeida, Natalia P. de; Nogueira, Fabio C. S. ; Domont, Gilberto B.
Fonte: Immunity & Ageing. Unidades: IB, ICB, FM
Assuntos: PARASITOLOGIA, COVID-19, SOBREVIVÊNCIA LIVRE DE DOENÇA, IDOSOS, INFECÇÕES POR VÍRUS DE RNA, INFECÇÕES POR CORONAVIRUS
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ABNT
CASTRO, Mateus Vidigal de et al. Correction: the oldest unvaccinated Covid-19 survivors in South America. Immunity & Ageing. London: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1186/s12979-022-00319-3. Acesso em: 26 set. 2024. , 2022
APA
Castro, M. V. de, Silva, M. V. R. da, Naslavsky, M., Scliar, M. O., Nunes, K., Passos-Bueno, M. R., et al. (2022). Correction: the oldest unvaccinated Covid-19 survivors in South America. Immunity & Ageing. London: Instituto de Biociências, Universidade de São Paulo. doi:10.1186/s12979-022-00319-3
NLM
Castro MV de, Silva MVR da, Naslavsky M, Scliar MO, Nunes K, Passos-Bueno MR, Magawa JY, Adami FL, Moretti AIS, Oliveira VL de, Boscardin SB, Cunha Neto E, Kalil Filho JE, Santos KS, Zatz M, Jouanguy E, Bastard P, Casanova J-L, Vega MQ, Acosta PS, Guedes JS de, Almeida NP de, Nogueira FCS, Domont GB. Correction: the oldest unvaccinated Covid-19 survivors in South America [Internet]. Immunity & Ageing. 2022 ; 19 1 .[citado 2024 set. 26 ] Available from: https://doi.org/10.1186/s12979-022-00319-3
Vancouver
Castro MV de, Silva MVR da, Naslavsky M, Scliar MO, Nunes K, Passos-Bueno MR, Magawa JY, Adami FL, Moretti AIS, Oliveira VL de, Boscardin SB, Cunha Neto E, Kalil Filho JE, Santos KS, Zatz M, Jouanguy E, Bastard P, Casanova J-L, Vega MQ, Acosta PS, Guedes JS de, Almeida NP de, Nogueira FCS, Domont GB. Correction: the oldest unvaccinated Covid-19 survivors in South America [Internet]. Immunity & Ageing. 2022 ; 19 1 .[citado 2024 set. 26 ] Available from: https://doi.org/10.1186/s12979-022-00319-3
Artigo de periodico
Development and function explain the modular evolution of phalanges in gecko lizards (2022)
Rothier, Priscila S; Simon, Monique N; Marroig, Gabriel ; Herrel, Anthony; Kohlsdorf, Tiana
Fonte: Royal Society of London. Proceedings B. Biological Sciences. Unidades: IB, FFCLRP
Assuntos: MORFOLOGIA ANIMAL, FALANGES DE ANIMAL, ANATOMIA ANIMAL
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ABNT
ROTHIER, Priscila S et al. Development and function explain the modular evolution of phalanges in gecko lizards. Royal Society of London. Proceedings B. Biological Sciences, v. 289, n. 1966, 2022Tradução . . Disponível em: https://doi.org/10.1098/rspb.2021.2300. Acesso em: 26 set. 2024.
APA
Rothier, P. S., Simon, M. N., Marroig, G., Herrel, A., & Kohlsdorf, T. (2022). Development and function explain the modular evolution of phalanges in gecko lizards. Royal Society of London. Proceedings B. Biological Sciences, 289( 1966). doi:10.1098/rspb.2021.2300
NLM
Rothier PS, Simon MN, Marroig G, Herrel A, Kohlsdorf T. Development and function explain the modular evolution of phalanges in gecko lizards [Internet]. Royal Society of London. Proceedings B. Biological Sciences. 2022 ; 289( 1966):[citado 2024 set. 26 ] Available from: https://doi.org/10.1098/rspb.2021.2300
Vancouver
Rothier PS, Simon MN, Marroig G, Herrel A, Kohlsdorf T. Development and function explain the modular evolution of phalanges in gecko lizards [Internet]. Royal Society of London. Proceedings B. Biological Sciences. 2022 ; 289( 1966):[citado 2024 set. 26 ] Available from: https://doi.org/10.1098/rspb.2021.2300
Trabalho de evento-resumo periodico
A new HLA imputation model for admixed samples: testing imputation accuracy in Brazil (2022)
Silva, Nayane S. B; Knorst, Stefan H. Y; Carmo, Ramon T; Masotti, Cibele; Naslavsky, Michel ; Duarte, Yeda Aparecida de Oliveira ; Zatz, Mayana ; Douillard, Venceslas; Limou, Sophie; Vince, Nicolas; Castelli, Erick C
Fonte: HLA. Nome do evento: Joint 35th European Immunogenetics and Histocompatibility Conference Amsterdam, the Netherlands. Unidades: IB, EE
Assuntos: ANTÍGENOS HLA, POLIMORFISMO, GENÉTICA DE POPULAÇÕES, VARIAÇÃO GENÉTICA
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ABNT
SILVA, Nayane S. B et al. A new HLA imputation model for admixed samples: testing imputation accuracy in Brazil. HLA. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1111/tan.14606. Acesso em: 26 set. 2024. , 2022
APA
Silva, N. S. B., Knorst, S. H. Y., Carmo, R. T., Masotti, C., Naslavsky, M., Duarte, Y. A. de O., et al. (2022). A new HLA imputation model for admixed samples: testing imputation accuracy in Brazil. HLA. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1111/tan.14606
NLM
Silva NSB, Knorst SHY, Carmo RT, Masotti C, Naslavsky M, Duarte YA de O, Zatz M, Douillard V, Limou S, Vince N, Castelli EC. A new HLA imputation model for admixed samples: testing imputation accuracy in Brazil [Internet]. HLA. 2022 ; 416-550.[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.14606
Vancouver
Silva NSB, Knorst SHY, Carmo RT, Masotti C, Naslavsky M, Duarte YA de O, Zatz M, Douillard V, Limou S, Vince N, Castelli EC. A new HLA imputation model for admixed samples: testing imputation accuracy in Brazil [Internet]. HLA. 2022 ; 416-550.[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.14606
Artigo de periodico
The oldest unvaccinated Covid-19 survivors in South America (2022)
Castro, Mateus Vidigal de ; Silva, Moníze Valéria Ramos da ; Naslavsky, Michel ; Scliar, Marilia O ; Nunes, Kelly ; Passos-Bueno, Maria Rita ; Magawa, Jhosiene Yukari; Adami, Flávia L ; Moretti, Ana Iochabel Soares ; Oliveira, Vivian L. de; Boscardin, Silvia Beatriz ; Cunha Neto, Edecio ; Kalil Filho, Jorge Elias ; Santos, Keity Souza ; Zatz, Mayana ; Jouanguy, Emmanuelle ; Bastard, Paul ; Casanova, Jean-Laurent ; Vega, Maruricio Quiñones; Acosta, Patricia Sosa ; Guedes, Jessica S. de; Almeida, Natalia P. de; Nogueira, Fabio C. S. ; Domont, Gilberto B.
Fonte: Immunity & Ageing. Unidades: IB, ICB, FM
Assuntos: PARASITOLOGIA, COVID-19, SOBREVIVÊNCIA LIVRE DE DOENÇA, IDOSOS, INFECÇÕES POR CORONAVIRUS
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ABNT
CASTRO, Mateus Vidigal de et al. The oldest unvaccinated Covid-19 survivors in South America. Immunity & Ageing, v. 19, 2022Tradução . . Disponível em: https://doi.org/10.1186/s12979-022-00310-y. Acesso em: 26 set. 2024.
APA
Castro, M. V. de, Silva, M. V. R. da, Naslavsky, M., Scliar, M. O., Nunes, K., Passos-Bueno, M. R., et al. (2022). The oldest unvaccinated Covid-19 survivors in South America. Immunity & Ageing, 19. doi:10.1186/s12979-022-00310-y
NLM
Castro MV de, Silva MVR da, Naslavsky M, Scliar MO, Nunes K, Passos-Bueno MR, Magawa JY, Adami FL, Moretti AIS, Oliveira VL de, Boscardin SB, Cunha Neto E, Kalil Filho JE, Santos KS, Zatz M, Jouanguy E, Bastard P, Casanova J-L, Vega MQ, Acosta PS, Guedes JS de, Almeida NP de, Nogueira FCS, Domont GB. The oldest unvaccinated Covid-19 survivors in South America [Internet]. Immunity & Ageing. 2022 ; 19[citado 2024 set. 26 ] Available from: https://doi.org/10.1186/s12979-022-00310-y
Vancouver
Castro MV de, Silva MVR da, Naslavsky M, Scliar MO, Nunes K, Passos-Bueno MR, Magawa JY, Adami FL, Moretti AIS, Oliveira VL de, Boscardin SB, Cunha Neto E, Kalil Filho JE, Santos KS, Zatz M, Jouanguy E, Bastard P, Casanova J-L, Vega MQ, Acosta PS, Guedes JS de, Almeida NP de, Nogueira FCS, Domont GB. The oldest unvaccinated Covid-19 survivors in South America [Internet]. Immunity & Ageing. 2022 ; 19[citado 2024 set. 26 ] Available from: https://doi.org/10.1186/s12979-022-00310-y
Artigo de periodico
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases (2022)
Vegas, Nancy ; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Tavares, Vanessa Luiza Romanelli ; Moisset, Hugo; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Halem, Souad Gherbi; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian ; Revencu, Nicole; Lehalle, Daphné; Petit, Florence ; Propst, Evan J.; Papsin, Blake C.; Phillips, John H.; Jakobsen, Linda; Tanno, Pauline Le; Thévenon, Julien; McGaughran, Julie; Gerkes, Erica H.; Leoni, Chiara; Kroisel, Peter; Tan, Tiong Y.; Henderson, Alex; Terhal, Paulien; Basel-Salmon, Lina; Alkindy, Adila; White, Susan M.; Passos-Bueno, Maria Rita ; Pingault, Véronique; Pontual, Loïc De; Amiel, Jeanne
Fonte: Human Mutation. Unidades: HRACF, HRAC, IB
Assuntos: DOENÇAS MUSCULOSQUELÉTICAS, ANORMALIDADES CRANIOFACIAIS, GENÉTICA
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ABNT
VEGAS, Nancy et al. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, v. 43, n. 5, p. 582-594, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24349. Acesso em: 26 set. 2024.
APA
Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., et al. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, 43( 5), 582-594. doi:10.1002/humu.24349
NLM
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2024 set. 26 ] Available from: https://doi.org/10.1002/humu.24349
Vancouver
Vegas N, Demir Z, Gordon CT, Breton S, Tavares VLR, Moisset H, Zechi-Ceide RM, Kokitsu-Nakata NM, Kido Y, Marlin S, Halem SG, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Tanno PL, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, Pontual LD, Amiel J. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases [Internet]. Human Mutation. 2022 ; 43( 5): 582-594.[citado 2024 set. 26 ] Available from: https://doi.org/10.1002/humu.24349
Artigo de periodico
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies (2021)
Canton, Ana Pinheiro Machado ; Krepischi, Ana Cristina Victorino ; Montenegro, Luciana Ribeiro; Costa, Silvia; Rosenberg, Carla ; Steunou, Virginie; Sobrier, Marie-Laure; Santana, Lucas ; Honjo, Rachel Sayuri ; Kim, Chong Ae ; Francis de Zegher; Idkowiak, Jan; Gilligan, Lorna C; Arlt, Wiebke; Funari, Mariana Ferreira de Assis ; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de ; Netchine, Irène; Brito, Vinicius Nahime ; Latronico, Ana Claudia
Fonte: Human Reproduction. Unidades: IB, FM
Assuntos: PUBERDADE PRECOCE, GENÉTICA, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS
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ABNT
CANTON, Ana Pinheiro Machado et al. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, v. 36, n. 2, p. 506-518, 2021Tradução . . Disponível em: https://doi.org/10.1093/humrep/deaa306. Acesso em: 26 set. 2024.
APA
Canton, A. P. M., Krepischi, A. C. V., Montenegro, L. R., Costa, S., Rosenberg, C., Steunou, V., et al. (2021). Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, 36( 2), 506-518. doi:10.1093/humrep/deaa306
NLM
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier M-L, Santana L, Honjo RS, Kim CA, Francis de Zegher, Idkowiak J, Gilligan LC, Arlt W, Funari MF de A, Jorge AA de L, Mendonca BB de, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies [Internet]. Human Reproduction. 2021 ; 36( 2): 506-518.[citado 2024 set. 26 ] Available from: https://doi.org/10.1093/humrep/deaa306
Vancouver
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier M-L, Santana L, Honjo RS, Kim CA, Francis de Zegher, Idkowiak J, Gilligan LC, Arlt W, Funari MF de A, Jorge AA de L, Mendonca BB de, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies [Internet]. Human Reproduction. 2021 ; 36( 2): 506-518.[citado 2024 set. 26 ] Available from: https://doi.org/10.1093/humrep/deaa306
Artigo de periodico
Prediction of eye, hair and skin colour in Latin Americans (2021)
Palmal, Sagnik; Adhikari, Kaustubh; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Cerqueira, Caio Cesar Silva de; Bonfant, Betty; Chacón-Duque, Juan Camilo; Sohail, Anood; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Jaramillo, Claudia; Arias, William; Lozano, Rodrigo Barquera; Everardo-Martínez, Paola; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Hünemeier, Tábita ; Ramallo, Virginia; Parolin, Maria-Laura; Gonzalez-José, Rolando; Schüler-Faccini, Lavinia; Bortolini, Maria-Cátira; Acuña-Alonzo, Victor; Canizales-Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Balding, David; Faux, Pierre; Ruiz-Linares, Andrés
Fonte: Forensic Science International: Genetics. Unidade: IB
Assuntos: MISCIGENAÇÃO, PELE, OLHO, CABELO, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PALMAL, Sagnik et al. Prediction of eye, hair and skin colour in Latin Americans. Forensic Science International: Genetics, v. 53, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.fsigen.2021.102517. Acesso em: 26 set. 2024.
APA
Palmal, S., Adhikari, K., Mendoza-Revilla, J., Fuentes-Guajardo, M., Cerqueira, C. C. S. de, Bonfant, B., et al. (2021). Prediction of eye, hair and skin colour in Latin Americans. Forensic Science International: Genetics, 53. doi:10.1016/j.fsigen.2021.102517
NLM
Palmal S, Adhikari K, Mendoza-Revilla J, Fuentes-Guajardo M, Cerqueira CCS de, Bonfant B, Chacón-Duque JC, Sohail A, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Lozano RB, Everardo-Martínez P, Gómez-Valdés J, Villamil-Ramírez H, Hünemeier T, Ramallo V, Parolin M-L, Gonzalez-José R, Schüler-Faccini L, Bortolini M-C, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Balding D, Faux P, Ruiz-Linares A. Prediction of eye, hair and skin colour in Latin Americans [Internet]. Forensic Science International: Genetics. 2021 ; 53[citado 2024 set. 26 ] Available from: https://doi.org/10.1016/j.fsigen.2021.102517
Vancouver
Palmal S, Adhikari K, Mendoza-Revilla J, Fuentes-Guajardo M, Cerqueira CCS de, Bonfant B, Chacón-Duque JC, Sohail A, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Lozano RB, Everardo-Martínez P, Gómez-Valdés J, Villamil-Ramírez H, Hünemeier T, Ramallo V, Parolin M-L, Gonzalez-José R, Schüler-Faccini L, Bortolini M-C, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Balding D, Faux P, Ruiz-Linares A. Prediction of eye, hair and skin colour in Latin Americans [Internet]. Forensic Science International: Genetics. 2021 ; 53[citado 2024 set. 26 ] Available from: https://doi.org/10.1016/j.fsigen.2021.102517
Artigo de periodico
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021)
Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J; Atique, Rodrigo; Bertola, Débora R; Cunningham , Michael L; Gustafson, Jonas A; Johnson, David; Morton, Jenny E. V; Passos-Bueno, Maria Rita ; Timberlake, Andre T; Lifton, Richa P; Wall, Steven A; Twigg, Stephen R. F; Maire, Pascal; Wilkie, Andrew O. M
Fonte: Journal of Medical Genetics. Unidade: IB
Assuntos: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS, DOENÇAS CONGÊNITAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CALPENA, Eduardo et al. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107459. Acesso em: 26 set. 2024.
APA
Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham , M. L., et al. (2021). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. doi:10.1136/jmedgenet-2020-107459
NLM
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Vancouver
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Artigo de periodico
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021)
Bastard, Paul ; Gervais, Adrian ; Voyer, Tom Le ; Rosain, Jérémie ; Philippot, Quentin; Manry, Jérémy ; Michailidis, Eleftherios ; Hoffmann, Hans-Heinrich ; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martínez, Alba; Yang, Rui; Liis, Haljasmägi; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; Prost, Nicolas de; Tandjaoui-Lambiotte, Yacine; Luyt , Charles-Edouard; Amador-Borrero, Blanca; Alexandre, Gaudet; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garçon, Pierre; Rivière, Jacques G; Lagier, Jean-Christophe; Gentile, Stéphanie; Rosen, Lindsey B; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R; Franco, José Luis; Anaya, Juan-Manuel; Solé-Violán, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M; Zhang, Yu; Snow, Andrew L; Holland, Steven M; Biggs, Catherine M; Moncada-Vélez, Marcela; Arias, Andrés Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Coulibaly, Boubacar; Anglicheau, Dany; Planas, Anna M; Haerynck, Filomeen; Duvlis, Sotirija; Nussbaum, Robert L; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A; ElBakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stéphane; Pan-Hammarström, Qiang; Hammarström, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana ; Beek, Diederik van de; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angélique; Vene, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H; Kennelly, Sean P; Bourke, Nollaig M; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Dorgham, Karim; Sallette, Jérome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raúl; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C; Ostrowski, Sisse Rye; Condino Neto, Antonio ; Prando, Carolina ; Bondarenko, Anastasiia; Spaan, András N; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P; Mane, Shrikant; Anderson, Mark S; Boisson, Bertrand; Béziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Pärt; Mogensen, Trine; H Rowen, Lee; Mond, James; Debette, Stéphanie; Lamballerie, Xavier de; Duval, Xavier; Mentré, France; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K; Piemonti, Lorenzo; Rodríguez-Gallego, Carlos; Notarangelo, Luigi D; Su, Helen C; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M; Tiberghien, Pierre; Zhang, Qian; Cobat, Aurélie; Abel, Laurent; Casanova, Jean-Laurent
Fonte: Science Immunology. Unidades: IB, ICB
Assuntos: COVID-19, INFECÇÕES POR CORONAVIRUS, ANTICORPOS, IMUNOLOGIA, HOMENS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BASTARD, Paul et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunology, v. 6, n. 62, p. 1-30, 2021Tradução . . Disponível em: https://doi.org/10.1126/sciimmunol.abl4340. Acesso em: 26 set. 2024.
APA
Bastard, P., Gervais, A., Voyer, T. L., Rosain, J., Philippot, Q., Manry, J., et al. (2021). Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunology, 6( 62), 1-30. doi:10.1126/sciimmunol.abl4340
NLM
Bastard P, Gervais A, Voyer TL, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann H-H, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Liis H, Migaud M, Särekannu K, Maslovskaja J, Prost N de, Tandjaoui-Lambiotte Y, Luyt C-E, Amador-Borrero B, Alexandre G, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier J-C, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux P-L, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya J-M, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, ElBakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, Beek D van de, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau Y-L, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Vene F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Anderson MS, Boisson B, Béziat V, Zhang S-Y, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, H Rowen L, Mond J, Debette S, Lamballerie X de, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J-L. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths [Internet]. Science Immunology. 2021 ; 6( 62): 1-30.[citado 2024 set. 26 ] Available from: https://doi.org/10.1126/sciimmunol.abl4340
Vancouver
Bastard P, Gervais A, Voyer TL, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann H-H, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Liis H, Migaud M, Särekannu K, Maslovskaja J, Prost N de, Tandjaoui-Lambiotte Y, Luyt C-E, Amador-Borrero B, Alexandre G, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier J-C, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux P-L, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya J-M, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, ElBakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, Beek D van de, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau Y-L, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Vene F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Anderson MS, Boisson B, Béziat V, Zhang S-Y, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, H Rowen L, Mond J, Debette S, Lamballerie X de, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J-L. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths [Internet]. Science Immunology. 2021 ; 6( 62): 1-30.[citado 2024 set. 26 ] Available from: https://doi.org/10.1126/sciimmunol.abl4340
Artigo de periodico
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021)
Andreakos, Evangelos ; Abel, Laurent ; Vinh, Donald C. ; Kaja, Elzbieta ; Drolet, Beth A. ; Zhang, Qian ; O\2019Farrelly, Cliona ; Novelli, Giuseppe ; Gallego, Carlos Rodríguez ; Haerynck, Filomeen ; Prando, Carolina ; Pujol, Aurora ; Condino Neto, Antonio ; Zatz, Mayana
Fonte: Nature Immunology. Unidades: ICB, IB
Assuntos: IMUNOLOGIA, INFECÇÕES POR CORONAVIRUS, GENÉTICA MÉDICA, INTERFERON TIPO I, QUIMIOCINAS, PLASMODIUM
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANDREAKOS, Evangelos et al. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology, p. 1-6, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41590-021-01030-z. Acesso em: 26 set. 2024.
APA
Andreakos, E., Abel, L., Vinh, D. C., Kaja, E., Drolet, B. A., Zhang, Q., et al. (2021). A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology, 1-6. doi:10.1038/s41590-021-01030-z
NLM
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Zatz M. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ; 1-6.[citado 2024 set. 26 ] Available from: https://doi.org/10.1038/s41590-021-01030-z
Vancouver
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Zatz M. A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ; 1-6.[citado 2024 set. 26 ] Available from: https://doi.org/10.1038/s41590-021-01030-z
Artigo de periodico-carta/editorial
Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (2021)
Andreakos, Evangelos ; Abel, Laurent ; Vinh, Donald C. ; Kaja, Elzbieta ; Drolet, Beth A. ; Zhang, Qian ; O\2019Farrelly, Cliona ; Novelli, Giuseppe ; Gallego, Carlos Rodríguez ; Haerynck, Filomeen ; Prando, Carolina ; Pujol, Aurora ; Condino Neto, Antonio ; Su, Helen C. ; Casanova, Jean-Laurent ; Spaan, András N. ; Zatz, Mayana
Fonte: Nature Immunology. Unidades: ICB, IB
Assuntos: IMUNOLOGIA, INFECÇÕES POR CORONAVIRUS, CORONAVIRUS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ANDREAKOS, Evangelos et al. Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology. New York: Instituto de Ciências Biomédicas, Universidade de São Paulo. Disponível em: https://doi.org/10.1038/s41590-021-01096-9. Acesso em: 26 set. 2024. , 2021
APA
Andreakos, E., Abel, L., Vinh, D. C., Kaja, E., Drolet, B. A., Zhang, Q., et al. (2021). Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology. New York: Instituto de Ciências Biomédicas, Universidade de São Paulo. doi:10.1038/s41590-021-01096-9
NLM
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Su HC, Casanova J-L, Spaan AN, Zatz M. Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ;1 .[citado 2024 set. 26 ] Available from: https://doi.org/10.1038/s41590-021-01096-9
Vancouver
Andreakos E, Abel L, Vinh DC, Kaja E, Drolet BA, Zhang Q, O\2019Farrelly C, Novelli G, Gallego CR, Haerynck F, Prando C, Pujol A, Condino Neto A, Su HC, Casanova J-L, Spaan AN, Zatz M. Author Correction: a global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection [Internet]. Nature Immunology. 2021 ;1 .[citado 2024 set. 26 ] Available from: https://doi.org/10.1038/s41590-021-01096-9
Artigo de periodico
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation (2021)
Bonfante, Betty; Faux, Pierr; Navarro, Nicolas; Mendoza-Revilla, Javier; Dubied, Morgane; Montillot, Charlotte; Wentworth, Emma; Poloni, Lauriane; Varón-González, Ceferino; Jones, Philip; Xiong, Ziyi; Fuentes-Guajardo, Macarena; Palmal, Sagnik; Chacón-Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Jaramillo, Claudia; Arias, William; Barquera, Rodrigo; Everardo-Martínez, Paola; Sánchez-Quinto, Mirsha; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Cerqueira, Caio C. Silva de; Hünemeier, Tábita ; Ramallo, Virginia; Liu, Fan; Weinberg, Seth M; Shaffer, John R; Stergiakouli, Evie; Howe, Laurence J; Hysi, Pirro G; Spector, Timothy D; Gonzalez-José, Rolando; Schüler-Faccini, Lavinia; Bortolini, Maria-Cátira; Acuña-Alonzo, Victor; Canizales-Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Thauvin-Robinet, Christel; Faivre, Laurence; Costedoat, Caroline; Balding, David; Cox, Timothy; Kayser, Manfred; Duplomb, Laurence; Yalcin, Binnaz; Cotney, Justin; Adhikari, Kaustubh; Ruiz-Linares, Andrés
Fonte: Science Advances. Unidade: IB
Assuntos: PELE, GENOMAS, GENEALOGIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BONFANTE, Betty et al. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Science Advances, v. 7, n. 6, 2021Tradução . . Disponível em: https://doi.org/10.1126/sciadv.abc6160. Acesso em: 26 set. 2024.
APA
Bonfante, B., Faux, P., Navarro, N., Mendoza-Revilla, J., Dubied, M., Montillot, C., et al. (2021). A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Science Advances, 7( 6). doi:10.1126/sciadv.abc6160
NLM
Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Cerqueira CCS de, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini M-C, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation [Internet]. Science Advances. 2021 ; 7( 6):[citado 2024 set. 26 ] Available from: https://doi.org/10.1126/sciadv.abc6160
Vancouver
Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Cerqueira CCS de, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini M-C, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation [Internet]. Science Advances. 2021 ; 7( 6):[citado 2024 set. 26 ] Available from: https://doi.org/10.1126/sciadv.abc6160
Artigo de periodico
HLA-A promoter, coding, and 3′UTR sequences in a Brazilian cohort, and their evolutionary aspects (2019)
Lima, Thálitta Hetamaro Ayala; Souza, Andréia S.; Porto, Iane O. P.; Paz, Michelle A.; Castelli, Luciana Caricati Veiga ; Oliveira, Maria Luiza Guimarães de ; Donadi, Eduardo Antônio ; Meyer, Diogo ; Sabbagh, Audrey; Mendes Júnior, Celso Teixeira ; Castelli, Erick C.
Fonte: HLA. Unidades: FMRP, IB, FFCLRP
Assuntos: ALELOS, EVOLUÇÃO, HAPLOTIPOS, SELEÇÃO NATURAL, POLIMORFISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LIMA, Thálitta Hetamaro Ayala et al. HLA-A promoter, coding, and 3′UTR sequences in a Brazilian cohort, and their evolutionary aspects. HLA, v. 93, n. 2-3, p. 65-79, 2019Tradução . . Disponível em: https://doi.org/10.1111/tan.13474. Acesso em: 26 set. 2024.
APA
Lima, T. H. A., Souza, A. S., Porto, I. O. P., Paz, M. A., Castelli, L. C. V., Oliveira, M. L. G. de, et al. (2019). HLA-A promoter, coding, and 3′UTR sequences in a Brazilian cohort, and their evolutionary aspects. HLA, 93( 2-3), 65-79. doi:10.1111/tan.13474
NLM
Lima THA, Souza AS, Porto IOP, Paz MA, Castelli LCV, Oliveira MLG de, Donadi EA, Meyer D, Sabbagh A, Mendes Júnior CT, Castelli EC. HLA-A promoter, coding, and 3′UTR sequences in a Brazilian cohort, and their evolutionary aspects [Internet]. HLA. 2019 ; 93( 2-3): 65-79.[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.13474
Vancouver
Lima THA, Souza AS, Porto IOP, Paz MA, Castelli LCV, Oliveira MLG de, Donadi EA, Meyer D, Sabbagh A, Mendes Júnior CT, Castelli EC. HLA-A promoter, coding, and 3′UTR sequences in a Brazilian cohort, and their evolutionary aspects [Internet]. HLA. 2019 ; 93( 2-3): 65-79.[citado 2024 set. 26 ] Available from: https://doi.org/10.1111/tan.13474
Artigo de periodico
233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 (2018)
Lostal, William ; Urtizberea, J. Andoni; Richard, Isabelle ; Alonso-Jiménez, Alicia ; Carlier, Robert-Yves; Carson, Vincent ; Diaz-Manera, Jordi ; Eymard, Bruno; Fardeau, Michel; Gourlay, Marie-Laurence; Guglieri, Michela ; Hogrel, Jean-Yves ; Kullmann, Bruno; Levy, Jennifer ; Ono, Yasuko ; Prigent, Hélène ; Saenz, Amets ; Semplicini, Claudio ; Vainzof, Mariz ; Vissing, John ; Maggie, Walter
Fonte: Neuromuscular Disorders. Unidade: IB
Assuntos: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA, ENZIMAS, AMINOÁCIDOS, ENSAIO CLÍNICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LOSTAL, William et al. 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017. Neuromuscular Disorders, v. 28, p. 540-549, 2018Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2018.03.010. Acesso em: 26 set. 2024.
APA
Lostal, W., Urtizberea, J. A., Richard, I., Alonso-Jiménez, A., Carlier, R. -Y., Carson, V., et al. (2018). 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017. Neuromuscular Disorders, 28, 540-549. doi:10.1016/j.nmd.2018.03.010
NLM
Lostal W, Urtizberea JA, Richard I, Alonso-Jiménez A, Carlier R-Y, Carson V, Diaz-Manera J, Eymard B, Fardeau M, Gourlay M-L, Guglieri M, Hogrel J-Y, Kullmann B, Levy J, Ono Y, Prigent H, Saenz A, Semplicini C, Vainzof M, Vissing J, Maggie W. 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 [Internet]. Neuromuscular Disorders. 2018 ; 28 540-549.[citado 2024 set. 26 ] Available from: https://doi.org/10.1016/j.nmd.2018.03.010
Vancouver
Lostal W, Urtizberea JA, Richard I, Alonso-Jiménez A, Carlier R-Y, Carson V, Diaz-Manera J, Eymard B, Fardeau M, Gourlay M-L, Guglieri M, Hogrel J-Y, Kullmann B, Levy J, Ono Y, Prigent H, Saenz A, Semplicini C, Vainzof M, Vissing J, Maggie W. 233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15–17 September 2017 [Internet]. Neuromuscular Disorders. 2018 ; 28 540-549.[citado 2024 set. 26 ] Available from: https://doi.org/10.1016/j.nmd.2018.03.010
Artigo de periodico
Methylome profiling of healthy and central precocious puberty girls (2018)
Bessa, Danielle S; Maschietto, Mariana; Aylwin, Carlos Francisco; Canton, Ana P. M; Brito, Vinicius N; Macedo, Delanie B; Cunha-Silva, Marina; Palhares, Heloísa M. C; Resende, Elisabete A. M. R. de; Borges, Maria de Fatima; Mendonça, Berenice B; Netchine, Irene; Krepischi, Ana Cristina Victorino ; Lomniczi, Alejandro; Ojeda, Sergio R; Latronico, Ana Claudia
Fonte: Clinical Epigenetics. Unidades: FM, IB
Assuntos: PUBERDADE, METILAÇÃO DE DNA, GENOMAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BESSA, Danielle S et al. Methylome profiling of healthy and central precocious puberty girls. Clinical Epigenetics, v. 10, n. 146, p. 1-18, 2018Tradução . . Disponível em: https://doi.org/10.1186/s13148-018-0581-1. Acesso em: 26 set. 2024.
APA
Bessa, D. S., Maschietto, M., Aylwin, C. F., Canton, A. P. M., Brito, V. N., Macedo, D. B., et al. (2018). Methylome profiling of healthy and central precocious puberty girls. Clinical Epigenetics, 10( 146), 1-18. doi:10.1186/s13148-018-0581-1
NLM
Bessa DS, Maschietto M, Aylwin CF, Canton APM, Brito VN, Macedo DB, Cunha-Silva M, Palhares HMC, Resende EAMR de, Borges M de F, Mendonça BB, Netchine I, Krepischi ACV, Lomniczi A, Ojeda SR, Latronico A C . Methylome profiling of healthy and central precocious puberty girls [Internet]. Clinical Epigenetics. 2018 ; 10( 146): 1-18.[citado 2024 set. 26 ] Available from: https://doi.org/10.1186/s13148-018-0581-1
Vancouver
Bessa DS, Maschietto M, Aylwin CF, Canton APM, Brito VN, Macedo DB, Cunha-Silva M, Palhares HMC, Resende EAMR de, Borges M de F, Mendonça BB, Netchine I, Krepischi ACV, Lomniczi A, Ojeda SR, Latronico A C . Methylome profiling of healthy and central precocious puberty girls [Internet]. Clinical Epigenetics. 2018 ; 10( 146): 1-18.[citado 2024 set. 26 ] Available from: https://doi.org/10.1186/s13148-018-0581-1

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