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Artigo de periodico
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (2021)
Tavares, Vanessa Luiza Romanelli ; Guimarães-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle de Paula; Buermans, Henk; Freitas, Renato S; Dunnen, Johan T Den; Twigg, Stephen R F; Passos-Bueno, Maria Rita
Fonte: Journal of Medical Genetics. Unidades: IB, BIOINFORMÁTICA
Assuntos: GENÉTICA, DOENÇAS GENÉTICAS, FENÓTIPOS, MALFORMAÇÕES, VARIAÇÃO GENÉTICA, ANORMALIDADES CRANIOFACIAIS
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ABNT
TAVARES, Vanessa Luiza Romanelli et al. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2021-107825. Acesso em: 26 set. 2024.
APA
Tavares, V. L. R., Guimarães-Ramos, S. L., Zhou, Y., Masotti, C., Ezquina, S., Moreira, D. de P., et al. (2021). New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics. doi:10.1136/jmedgenet-2021-107825
NLM
Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
Vancouver
Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 set. 26 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
Artigo de periodico
Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update) (2021)
Roos, Dirk ; Leeuwen, Karin van ; Hsu, Amy P. ; Priel, Debra Long ; Begtrup, Amber ; Brandon, Rhonda; Rawat, Amit ; Vignesh, Pandiarajan ; Madkaikar, Manesha ; Stasia, Marie José ; Bakri, Faris Ghalib ; Boer, Martin de ; Roesler, Joachim ; Köker, Nezihe ; Köker, Mustafa Yavuz ; Jakobsen, Marianne ; Bustamante, Jacinta ; Morato, Maria Bravo Garcia ; Condino Neto, Antonio
Fonte: Blood Cells, Molecules and Diseases. Unidade: ICB
Assuntos: IMUNOLOGIA, DOENÇAS GENÉTICAS, IMUNODEFICIÊNCIA DE VARIÁVEL COMUM, IMUNOGENÉTICA, MUTAÇÃO GENÉTICA, POLIMORFISMO, INIBIDORES DE ENZIMAS, PERÓXIDO DE HIDROGÊNIO, APOPTOSE, HERANÇA GENÉTICA
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ABNT
ROOS, Dirk et al. Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update). Blood Cells, Molecules and Diseases, v. 92, p. 1-16, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.bcmd.2021.102596. Acesso em: 26 set. 2024.
APA
Roos, D., Leeuwen, K. van, Hsu, A. P., Priel, D. L., Begtrup, A., Brandon, R., et al. (2021). Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update). Blood Cells, Molecules and Diseases, 92, 1-16. doi:10.1016/j.bcmd.2021.102596
NLM
Roos D, Leeuwen K van, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, Boer M de, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Morato MBG, Condino Neto A. Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update) [Internet]. Blood Cells, Molecules and Diseases. 2021 ; 92 1-16.[citado 2024 set. 26 ] Available from: https://doi.org/10.1016/j.bcmd.2021.102596
Vancouver
Roos D, Leeuwen K van, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, Boer M de, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Morato MBG, Condino Neto A. Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update) [Internet]. Blood Cells, Molecules and Diseases. 2021 ; 92 1-16.[citado 2024 set. 26 ] Available from: https://doi.org/10.1016/j.bcmd.2021.102596
Trabalho de evento-resumo
TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions (2015)
Markello, T.; Marchegiani, S.; Davis, T.; Tessadori, F.; van Haaften, G.; Brancati, F.; Pusey, B.; Wolfe, L.; Tifft, C.; Ferraz, Victor Evangelista de Faria; Roche, N.; Ramos, F.; Malicdan, M.; Boerkoel, C.; Gahl, W. A.; Vries, B. de; van Haelst, M.; Zenker, M.
Fonte: Poster Abstracts. Nome do evento: Annual Meeting of the American Society of Human Genetics. Unidade: FMRP
Assuntos: MACROSTOMIA, DOENÇAS GENÉTICAS
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ABNT
MARKELLO, T. et al. TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. 2015, Anais.. Baltimore: ASHG, 2015. . Acesso em: 26 set. 2024.
APA
Markello, T., Marchegiani, S., Davis, T., Tessadori, F., van Haaften, G., Brancati, F., et al. (2015). TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. In Poster Abstracts. Baltimore: ASHG.
NLM
Markello T, Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Pusey B, Wolfe L, Tifft C, Ferraz VE de F, Roche N, Ramos F, Malicdan M, Boerkoel C, Gahl WA, Vries B de, van Haelst M, Zenker M. TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. Poster Abstracts. 2015 ;[citado 2024 set. 26 ]
Vancouver
Markello T, Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Pusey B, Wolfe L, Tifft C, Ferraz VE de F, Roche N, Ramos F, Malicdan M, Boerkoel C, Gahl WA, Vries B de, van Haelst M, Zenker M. TWIST2 is the cause of ablepharon macrostomia and barber say syndromes: reascertainment of two cases lost to follow-up as keys to solving these conditions. Poster Abstracts. 2015 ;[citado 2024 set. 26 ]
Artigo de periodico
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency (2015)
Walter, Jolan E.; Rosen, Lindsey B.; Csomos, Krisztian; Rosenberg, Jacob M.; Mathew, Divij; Keszei, Marton; Ujhazi, Boglarka; Chen, Karin; Lee, Yu Nee; Tirosh, Irit; Dobbs, Kerry; Al-Herz, Waleed; Cowan, Morton J.; Puck, Jennifer; Blessing, Jack J.; Grimley, Michael S.; Malech, Harry; Ravin, Suk See De; Gennery, Andrew R.; Abraham, Roshini S.; Joshi, Avni Y.; Boyce, Thomas G.; Butte, Manish J.; Nadeau, Kari C.; Balboni, Imelda; Sullivan, Kathleen E.; Akhter, Javeed; Adeli, Mehdi; El-Feky, Reem A.; El-Ghoneimy, Dalia H.; Dbaibo, Ghassan; Wakim, Rima; Azzari, Chiara; Palma, Paolo; Cancrini, Caterina; Capuder, Kelly; Condino-Neto, Antonio; Costa-Carvalho, Beatriz Tavares; Oliveira, João Bosco; Roifman, Chaim; Buchbinder, David; Kumanovics, Attila; Franco, Jose Luis; Niehues, Tim; Schuetz, Catharina; Kuijpers, Taco; Yee, Christina; Chou, Janet; Masaad, Michel J.; Geha, Raif; Uzel, Gulbu; Gelman, Rebecca; Holland, Steven M.; Recher, Mike; Utz, Paul J.; Browne, Sarah K.; Notarangelo, Luigi D.
Fonte: Journal of Clinical Investigation. Unidade: ICB
Assuntos: IMUNOLOGIA, ANTICORPOS, CITOCINAS, MUTAÇÃO GENÉTICA, DOENÇAS AUTOIMUNE, DOENÇAS GENÉTICAS
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ABNT
WALTER, Jolan E. et al. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. Journal of Clinical Investigation, v. 125, n. 11, p. 4135-4148, 2015Tradução . . Disponível em: https://doi.org/10.1172/JCI80477. Acesso em: 26 set. 2024.
APA
Walter, J. E., Rosen, L. B., Csomos, K., Rosenberg, J. M., Mathew, D., Keszei, M., et al. (2015). Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. Journal of Clinical Investigation, 125( 11), 4135-4148. doi:10.1172/JCI80477
NLM
Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Blessing JJ, Grimley MS, Malech H, Ravin SSD, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency [Internet]. Journal of Clinical Investigation. 2015 ; 125( 11): 4135-4148.[citado 2024 set. 26 ] Available from: https://doi.org/10.1172/JCI80477
Vancouver
Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Blessing JJ, Grimley MS, Malech H, Ravin SSD, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency [Internet]. Journal of Clinical Investigation. 2015 ; 125( 11): 4135-4148.[citado 2024 set. 26 ] Available from: https://doi.org/10.1172/JCI80477
Artigo de periodico
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect (2015)
Tavares, Vanessa Luiza Romanelli ; Gordon, Christopher T; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Voisin, Norine; Tan, Tiong Y; Heggie, Andrew A; Pittoli, Siulan Vendramini Paulovich ; Propst, Evan J; Papsin, Blake C; Torres, Tatiana Teixeira ; Buermans, Henk; Capelo, Luciane Portas; Den Dunnen, Johan T; Guion-Almeida, Maria Leine; Lyonnet, Stanislas; Amiel, Jeanne; Passos-Bueno, Maria Rita
Fonte: European Journal of Human Genetics. Unidades: HRAC, IB
Assuntos: ANORMALIDADES CRANIOFACIAIS, DOENÇAS GENÉTICAS, GENES
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ABNT
TAVARES, Vanessa Luiza Romanelli et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, v. 23, n. 4, p. 481-485, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.132. Acesso em: 26 set. 2024.
APA
Tavares, V. L. R., Gordon, C. T., Zechi-Ceide, R. M., Nakata, N. M. K., Voisin, N., Tan, T. Y., et al. (2015). Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, 23( 4), 481-485. doi:10.1038/ejhg.2014.132
NLM
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 set. 26 ] Available from: https://doi.org/10.1038/ejhg.2014.132
Vancouver
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 set. 26 ] Available from: https://doi.org/10.1038/ejhg.2014.132

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