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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
Source: Human Mutation. Unidades: HRACF, HRAC, IB
Subjects: 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: 18 nov. 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 nov. 18 ] 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 nov. 18 ] Available from: https://doi.org/10.1002/humu.24349
Artigo de periodico
Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 (2020)
Pittoli, Siulan Vendramini Paulovich ; Souza, Rosana Maria Candido ; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho ; FitzPatrick, David R. ; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: Journal of Pediatric Genetics. Unidades: HRAC, HRACF
Subjects: AGENESIA, FISSURA PALATINA, DELEÇÃO DE GENES
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ABNT
PITTOLI, Siulan Vendramini Paulovich et al. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2. Journal of Pediatric Genetics, v. 9, n. 4, p. 258-262, 2020Tradução . . Disponível em: https://doi.org/10.1055/s-0039-3402047. Acesso em: 18 nov. 2024.
APA
Pittoli, S. V. P., Souza, R. M. C., Quiezi, R. G., Zechi-Ceide, R. M., Nakata, N. M. K., Jehee, F. S., et al. (2020). Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2. Journal of Pediatric Genetics, 9( 4), 258-262. doi:10.1055/s-0039-3402047
NLM
Pittoli SVP, Souza RMC, Quiezi RG, Zechi-Ceide RM, Nakata NMK, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 [Internet]. Journal of Pediatric Genetics. 2020 ; 9( 4): 258-262.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1055/s-0039-3402047
Vancouver
Pittoli SVP, Souza RMC, Quiezi RG, Zechi-Ceide RM, Nakata NMK, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 [Internet]. Journal of Pediatric Genetics. 2020 ; 9( 4): 258-262.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1055/s-0039-3402047
Artigo de periodico
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome (2019)
Richieri-Costa, Antonio ; Zechi-Ceide, Roseli Maria ; Souza, Rosana Maria Candido ; Monteiro, Rejane Alves de Carvalho; Tonello, Cristiano; Freitas, Mariana L. de; Nakata, Nancy Mizue Kokitsu ; Pittoli, Siulan Vendramini Paulovich ; Mazzeu, Juliana F; Overes, Madelief; Ali-Amin, Roza; van Slegtenhorst, Marjon; Hoefsloot, Lies H; Jehee, Fernanda S
Source: American Journal of Medical Genetics. Unidades: HRAC, HRACF
Subjects: GENÉTICA, HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
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ABNT
RICHIERI-COSTA, Antonio et al. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, v. No 2019, n. 11, p. 2170-2177, 2019Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.61305. Acesso em: 18 nov. 2024.
APA
Richieri-Costa, A., Zechi-Ceide, R. M., Souza, R. M. C., Monteiro, R. A. de C., Tonello, C., Freitas, M. L. de, et al. (2019). Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, No 2019( 11), 2170-2177. doi:10.1002/ajmg.a.61305
NLM
Richieri-Costa A, Zechi-Ceide RM, Souza RMC, Monteiro RA de C, Tonello C, Freitas ML de, Nakata NMK, Pittoli SVP, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome [Internet]. American Journal of Medical Genetics. 2019 ; No 2019( 11): 2170-2177.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Vancouver
Richieri-Costa A, Zechi-Ceide RM, Souza RMC, Monteiro RA de C, Tonello C, Freitas ML de, Nakata NMK, Pittoli SVP, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome [Internet]. American Journal of Medical Genetics. 2019 ; No 2019( 11): 2170-2177.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Trabalho de evento-resumo
Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3 (2019)
Nakata, Nancy Mizue Kokitsu ; Jehee, F; Sandri, R; Pittoli, Siulan Vendramini Paulovich ; Alvarez, Camila Wenceslau ; Monteiro, R; Mazzeu, J; Zechi-Ceide, Roseli Maria ; Richieri-Costa, Antonio
Source: Utrecht: European Cleft Palate Craniofacial Association, 2019. Conference titles: European Cleft Palate Craniofacial Association Congress. Unidade: HRAC
Subjects: FENÓTIPOS, SÍNDROME DE PIERRE ROBIN, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu et al. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3. 2019, Anais.. Utrecht: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2019. Disponível em: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf. Acesso em: 18 nov. 2024.
APA
Nakata, N. M. K., Jehee, F., Sandri, R., Pittoli, S. V. P., Alvarez, C. W., Monteiro, R., et al. (2019). Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3. In Utrecht: European Cleft Palate Craniofacial Association, 2019. Utrecht: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
NLM
Nakata NMK, Jehee F, Sandri R, Pittoli SVP, Alvarez CW, Monteiro R, Mazzeu J, Zechi-Ceide RM, Richieri-Costa A. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3 [Internet]. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;[citado 2024 nov. 18 ] Available from: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
Vancouver
Nakata NMK, Jehee F, Sandri R, Pittoli SVP, Alvarez CW, Monteiro R, Mazzeu J, Zechi-Ceide RM, Richieri-Costa A. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3 [Internet]. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;[citado 2024 nov. 18 ] Available from: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
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
Source: European Journal of Human Genetics. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, DOENÇAS GENÉTICAS, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 18 nov. 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 nov. 18 ] 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 nov. 18 ] Available from: https://doi.org/10.1038/ejhg.2014.132
Artigo de periodico
Further delineation of Kabuki Syndrome in 48 well-defined new individuals (2005)
Armstrong, Linlea; Moneim, Azza Abd El; Aleck, Kirk; Aughton, David J.; Baumann, Clarisse; Braddock, Stephen R.; Gillessen-Kaesbach, Gabriele; Graham Junior, John M.; Grebe, Theresa A.; Gripp, Karen W.; Hall, Bryan D.; Hennekam, Raoul; Hunter, Alasdair; Keppler-Noreuil, Kim; Lacombe, Didier; Lin, Angela E.; Ming, Jeffrey E.; Nakata, Nancy Mizue Kokitsu ; Nikkel, Sarah M.; Philip, Nicole; Raas-Rothschild, Annick; Sommer, Annemarie; Verloes, Alain; Walter, Claudia; Wieczorek, Dagmar; Williams, Marc S.; Zackai, Elaine; Allanson, Judith E.
Source: American Journal of Medical Genetics. Part A. Unidade: HRACF
Subjects: ANORMALIDADES CONGÊNITAS, ANORMALIDADES MÚLTIPLAS, FENÓTIPOS, RETARDO MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ARMSTRONG, Linlea et al. Further delineation of Kabuki Syndrome in 48 well-defined new individuals. American Journal of Medical Genetics. Part A, v. 132A, n. Ja 2005, p. 265-272, 2005Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30340. Acesso em: 18 nov. 2024.
APA
Armstrong, L., Moneim, A. A. E., Aleck, K., Aughton, D. J., Baumann, C., Braddock, S. R., et al. (2005). Further delineation of Kabuki Syndrome in 48 well-defined new individuals. American Journal of Medical Genetics. Part A, 132A( Ja 2005), 265-272. doi:10.1002/ajmg.a.30340
NLM
Armstrong L, Moneim AAE, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham Junior JM, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Nakata NMK, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki Syndrome in 48 well-defined new individuals [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 132A( Ja 2005): 265-272.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1002/ajmg.a.30340
Vancouver
Armstrong L, Moneim AAE, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham Junior JM, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Nakata NMK, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki Syndrome in 48 well-defined new individuals [Internet]. American Journal of Medical Genetics. Part A. 2005 ; 132A( Ja 2005): 265-272.[citado 2024 nov. 18 ] Available from: https://doi.org/10.1002/ajmg.a.30340

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