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Artigo de periodico
A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects (2021)
Palagano, Eleonora; Gordon, Christopher T; Uva, Paolo ; Strina, Dario ; Dimartino, Clémantine; Villa, Anna; Amiel, Jeanne; Guion-Almeida, Maria Leine; Pittoli, Siulan Vendramini Paulovich ; Nakata, Nancy Mizue Kokitsu ; Zechi-Ceide, Roseli Maria ; Sobacchi, Cristina
Fonte: Bone. Unidade: HRAC
Assuntos: DISOSTOSE MANDIBULOFACIAL, MUTAÇÃO GENÉTICA, FENÓTIPOS, CONVULSÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PALAGANO, Eleonora et al. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, v. 153, p. 7 , 2021Tradução . . Disponível em: https://doi.org/10.1016/j.bone.2021.116152. Acesso em: 02 ago. 2024.
APA
Palagano, E., Gordon, C. T., Uva, P., Strina, D., Dimartino, C., Villa, A., et al. (2021). A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, 153, 7 . doi:10.1016/j.bone.2021.116152
NLM
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2024 ago. 02 ] Available from: https://doi.org/10.1016/j.bone.2021.116152
Vancouver
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2024 ago. 02 ] Available from: https://doi.org/10.1016/j.bone.2021.116152
Artigo de periodico
Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus (2020)
Tesser, Alessandra; Carvalho, Luciana Martins de ; Sandrin-Garcia, Paula; Pin, Alessia; Pastore, Serena; Taddio, Andrea; Roberti, Luciana Rodrigues; Queiroz, Rosane Gomes de Paula; Ferriani, Virgínia Paes Leme ; Crovella, Sergio; Tommasini, Alberto
Fonte: Arthritis Research & Therapy. Unidade: FMRP
Assuntos: LÚPUS ERITEMATOSO SISTÊMICO, INTERFERONS, AUTOIMUNIDADE, CRIANÇAS, INTERFERON TIPO I, EXPRESSÃO GÊNICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TESSER, Alessandra et al. Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus. Arthritis Research & Therapy, v. 22, p. 1-12, 2020Tradução . . Disponível em: https://doi.org/10.1186/s13075-020-02161-8. Acesso em: 02 ago. 2024.
APA
Tesser, A., Carvalho, L. M. de, Sandrin-Garcia, P., Pin, A., Pastore, S., Taddio, A., et al. (2020). Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus. Arthritis Research & Therapy, 22, 1-12. doi:10.1186/s13075-020-02161-8
NLM
Tesser A, Carvalho LM de, Sandrin-Garcia P, Pin A, Pastore S, Taddio A, Roberti LR, Queiroz RG de P, Ferriani VPL, Crovella S, Tommasini A. Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus [Internet]. Arthritis Research & Therapy. 2020 ; 22 1-12.[citado 2024 ago. 02 ] Available from: https://doi.org/10.1186/s13075-020-02161-8
Vancouver
Tesser A, Carvalho LM de, Sandrin-Garcia P, Pin A, Pastore S, Taddio A, Roberti LR, Queiroz RG de P, Ferriani VPL, Crovella S, Tommasini A. Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus [Internet]. Arthritis Research & Therapy. 2020 ; 22 1-12.[citado 2024 ago. 02 ] Available from: https://doi.org/10.1186/s13075-020-02161-8
Artigo de periodico
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants (2012)
Zampieri, Stefania; Cattarossi, Silvia; Oller Ramirez, Ana Maria; Rosano, Camillo; Lourenço, Charles Marques; Passon, Nadia; Moroni, Isabella; Uziel, Graziella; Pettinari, Antonella; Stanzial, Franco; Kremer, Raquel Dodelson de; Azar, Nydia Beatriz; Hazan, Filiz; Filocamo, Mirella; Bembi, Bruno; Dardis, Andrea
Fonte: PLOS ONE. Unidade: FMRP
Assuntos: TRANSFECÇÃO, REAÇÃO EM CADEIA POR POLIMERASE, DELEÇÃO DE GENES, MUTAÇÃO GENÉTICA, LISOSSOMOS, DOENÇAS NEURODEGENERATIVAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZAMPIERI, Stefania et al. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants. PLOS ONE, v. 7, n. 7, p. 1-10, 2012Tradução . . Disponível em: https://doi.org/10.1371/journal.pone.0041516. Acesso em: 02 ago. 2024.
APA
Zampieri, S., Cattarossi, S., Oller Ramirez, A. M., Rosano, C., Lourenço, C. M., Passon, N., et al. (2012). Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants. PLOS ONE, 7( 7), 1-10. doi:10.1371/journal.pone.0041516
NLM
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenço CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, Kremer RD de, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants [Internet]. PLOS ONE. 2012 ; 7( 7): 1-10.[citado 2024 ago. 02 ] Available from: https://doi.org/10.1371/journal.pone.0041516
Vancouver
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenço CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, Kremer RD de, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A. Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff Disease: functional characterization of 9 novel sequence variants [Internet]. PLOS ONE. 2012 ; 7( 7): 1-10.[citado 2024 ago. 02 ] Available from: https://doi.org/10.1371/journal.pone.0041516

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