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Artigo de periodico
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries (2024)
Mazzonetto, Patricia Camacho ; Villela, Darine ; Krepischi, Ana Cristina Victorino ; Pierry, Paulo Marques ; Bonaldi, Adriano; Almeida, Luiz Gustavo Dufner de ; Paula, Marcelo Gomes de ; Bürger, Matheus Carvalho ; Oliveira, Ana Gabriela de; Fonseca, Gustavo G. G; Giugliani, Roberto ; Riegel-Giugliani, Mariluce ; Bertola, Débora Romeo ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Campos, Gabriele da Silva ; Machado, Ana Claudia Dantas ; Mazzeu, Juliana Forte ; Perrone, Eduardo ; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue ; Vieira, Társis Paiva ; Steiner, Carlos Eduardo ; Gil-da-Silva-Lopes, Vera Lúcia ; Vieira, Daniela Koeller Rodrigues; Boy, Raquel ; Pina Neto, João Monteiro de ; Scapulatempo Neto, Cristovam ; Milanezi, Fernanda ; Rosenberg, Carla
Source: American Journal of Medical Genetics. Part A. Unidades: IB, BIOINFORMÁTICA, HRAC, FMRP
Subjects: CITOGENÉTICA, GENOMAS, CUIDADO PÓS-NATAL, DIAGNÓSTICO
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ABNT
MAZZONETTO, Patricia Camacho et al. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American Journal of Medical Genetics. Part A, v. No 2024, n. 11, p. e63802, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63802. Acesso em: 16 nov. 2024.
APA
Mazzonetto, P. C., Villela, D., Krepischi, A. C. V., Pierry, P. M., Bonaldi, A., Almeida, L. G. D. de, et al. (2024). Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American Journal of Medical Genetics. Part A, No 2024( 11), e63802. doi:10.1002/ajmg.a.63802
NLM
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD de, Paula MG de, Bürger MC, Oliveira AG de, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola DR, Yamamoto GL, Passos-Bueno MR, Campos G da S, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, Pina Neto JM de, Scapulatempo Neto C, Milanezi F, Rosenberg C. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [Internet]. American Journal of Medical Genetics. Part A. 2024 ; No 2024( 11): e63802.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Vancouver
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD de, Paula MG de, Bürger MC, Oliveira AG de, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola DR, Yamamoto GL, Passos-Bueno MR, Campos G da S, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, Pina Neto JM de, Scapulatempo Neto C, Milanezi F, Rosenberg C. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [Internet]. American Journal of Medical Genetics. Part A. 2024 ; No 2024( 11): e63802.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Artigo de periodico
New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes (2023)
Machado, Renato Assis ; Andrade, Rodrigo Soares de; Pêgo, Sabina Pena Borges ; Krepischi, Ana Cristina Victorino ; Coletta, Ricardo Della ; Martelli-Júnior, Hercílio
Source: Journal of Periodontology. Unidades: IB, HRAC
Subjects: FIBROMATOSE GENGIVAL, HETEROGENEIDADE, DOENÇAS HEREDITÁRIAS
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MACHADO, Renato Assis et al. New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes. Journal of Periodontology, v. 94, n. Ja 2023, p. 108-118, 2023Tradução . . Disponível em: https://doi.org/10.1002/JPER.22-0219. Acesso em: 16 nov. 2024.
APA
Machado, R. A., Andrade, R. S. de, Pêgo, S. P. B., Krepischi, A. C. V., Coletta, R. D., & Martelli-Júnior, H. (2023). New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes. Journal of Periodontology, 94( Ja 2023), 108-118. doi:10.1002/JPER.22-0219
NLM
Machado RA, Andrade RS de, Pêgo SPB, Krepischi ACV, Coletta RD, Martelli-Júnior H. New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes [Internet]. Journal of Periodontology. 2023 ; 94( Ja 2023): 108-118.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/JPER.22-0219
Vancouver
Machado RA, Andrade RS de, Pêgo SPB, Krepischi ACV, Coletta RD, Martelli-Júnior H. New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes [Internet]. Journal of Periodontology. 2023 ; 94( Ja 2023): 108-118.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/JPER.22-0219
Artigo de periodico
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei ; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio ; Brunoni, Décio; Canó, Talyta M.; Jorge, Alexander A. L. ; Kim, Chong Ae ; Honjo, Rachel ; Bertola, Débora R. ; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C.; Okamoto, Nobuhiko ; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P. ; Pogue, Robert ; Pereira, Rinaldo W.; Otto, Paulo A ; Gibbs, Richard A.; Ali, Bassam R.; van Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R. ; Vianna-Morgante, Angela M ; Carvalho, Claudia M. B. ; Mazzeu, Juliana F.
Source: Human Mutation. Unidades: HRAC, FM, IB
Subjects: FENÓTIPOS, MORFOLOGIA (ANATOMIA), SEQUENCIAMENTO GENÉTICO
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ABNT
LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 16 nov. 2024.
APA
Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375
NLM
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/humu.24375
Vancouver
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/humu.24375
Trabalho de evento-resumo
Fissuras raras da face e apêndices finger-like: desorganização em seres humanos (2022)
Serigatto, Henrique Regonaschi ; Virmond, Luiza do Amaral; Kokitsu-Nakata, Nancy Mizue ; Vendramini-Pittoli, Siulan ; Rosenberg, Carla ; Zechi-Ceide, Roseli Maria
Source: Anais. Conference titles: Congresso Médico Acadêmico de Bauru da Universidade de São Paulo - COMAB. Unidades: HRAC, IB, HRACF
Subjects: ANOMALIA FACIAL, TERATOLOGIA
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ABNT
SERIGATTO, Henrique Regonaschi et al. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos. 2022, Anais.. Bauru: Faculdade de Odontologia de Bauru. Universidade de São Paulo, 2022. Disponível em: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf. Acesso em: 16 nov. 2024.
APA
Serigatto, H. R., Virmond, L. do A., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Rosenberg, C., & Zechi-Ceide, R. M. (2022). Fissuras raras da face e apêndices finger-like: desorganização em seres humanos. In Anais. Bauru: Faculdade de Odontologia de Bauru. Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
NLM
Serigatto HR, Virmond L do A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Zechi-Ceide RM. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos [Internet]. Anais. 2022 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
Vancouver
Serigatto HR, Virmond L do A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Zechi-Ceide RM. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos [Internet]. Anais. 2022 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
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: 16 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. 16 ] 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. 16 ] Available from: https://doi.org/10.1002/humu.24349
Artigo de periodico
Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development (2018)
Hsia, Gabriella S. P; Musso, Camila M; Alvizi, Lucas; Brito, Luciano A; Kobayashi, Gerson S; Pavanello, Rita C M; Zatz, Mayana ; Gardham, Alice; Wakeling, Emma; Zechi-Ceide, Roseli M; Bertola, Débora; Passos-Bueno, Maria Rita
Source: Frontiers in Genetics. Unidades: IB, HRAC
Subjects: DISOSTOSE CRÂNIOFACIAL, DOENÇAS GENÉTICAS, CROMOSSOMOS, METILAÇÃO DE DNA, MALFORMAÇÕES, ANORMALIDADES CRANIOFACIAIS, GENÉTICA MÉDICA
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ABNT
HSIA, Gabriella S. P et al. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Frontiers in Genetics, v. 9, p. 1-8, 2018Tradução . . Disponível em: https://doi.org/10.3389/fgene.2018.00149. Acesso em: 16 nov. 2024.
APA
Hsia, G. S. P., Musso, C. M., Alvizi, L., Brito, L. A., Kobayashi, G. S., Pavanello, R. C. M., et al. (2018). Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Frontiers in Genetics, 9, 1-8. doi:10.3389/fgene.2018.00149
NLM
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development [Internet]. Frontiers in Genetics. 2018 ; 9 1-8.[citado 2024 nov. 16 ] Available from: https://doi.org/10.3389/fgene.2018.00149
Vancouver
Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development [Internet]. Frontiers in Genetics. 2018 ; 9 1-8.[citado 2024 nov. 16 ] Available from: https://doi.org/10.3389/fgene.2018.00149
Artigo de periodico
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome (2017)
Miller, Emily E; Kobayashi, Gerson S; Musso, Camila M; Allen, Miranda; Ishiy, Felipe A. A; Caires Jr, Luiz Carlos de; Goulart, Ernesto ; Griesi-Oliveira, Karina; Zechi-Ceide, Roseli Maria; Richieri-Costa, Antonio; Bertola, Débora Romeo; Passos-Bueno, Maria Rita ; Silver, Debra L
Source: Human Molecular Genetics. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MODELOS ANIMAIS, MALFORMAÇÕES, DISOSTOSE MANDIBULOFACIAL
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ABNT
MILLER, Emily E et al. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, v. 26, n. 12, p. 2177-2191, 2017Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddx078. Acesso em: 16 nov. 2024.
APA
Miller, E. E., Kobayashi, G. S., Musso, C. M., Allen, M., Ishiy, F. A. A., Caires Jr, L. C. de, et al. (2017). EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, 26( 12), 2177-2191. doi:10.1093/hmg/ddx078
NLM
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, Caires Jr LC de, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome [Internet]. Human Molecular Genetics. 2017 ; 26( 12): 2177-2191.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1093/hmg/ddx078
Vancouver
Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FAA, Caires Jr LC de, Goulart E, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome [Internet]. Human Molecular Genetics. 2017 ; 26( 12): 2177-2191.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1093/hmg/ddx078
Artigo de periodico
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome (2017)
Romanelli Tavares, Vanessa L.; Zechi-Ceide, Roseli M.; Bertola, Debora R.; Gordon, Christopher T.; Ferreira, Simone G.; Hsia, Gabriella S. P.; Yamamoto, Guilherme L.; Ezquina, Suzana A. M.; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Freitas, Renato S.; Souza, Josiane; Raposo-Amaral, Cesar A.; Zatz, Mayana ; Amiel, Jeanne; Guion-Almeida, Maria L.; Passos-Bueno, Maria Rita
Source: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, MALFORMAÇÕES, DOENÇAS GENÉTICAS, FENÓTIPOS, VARIAÇÃO GENÉTICA
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ABNT
ROMANELLI TAVARES, Vanessa L. et al. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, v. 173, n. 4, p. 938-945, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38101. Acesso em: 16 nov. 2024.
APA
Romanelli Tavares, V. L., Zechi-Ceide, R. M., Bertola, D. R., Gordon, C. T., Ferreira, S. G., Hsia, G. S. P., et al. (2017). Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American Journal of Medical Genetics Part A, 173( 4), 938-945. doi:10.1002/ajmg.a.38101
NLM
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GSP, Yamamoto GL, Ezquina SAM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ;173( 4): 938-945.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Vancouver
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GSP, Yamamoto GL, Ezquina SAM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome [Internet]. American Journal of Medical Genetics Part A. 2017 ;173( 4): 938-945.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.38101
Artigo de periodico
Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability (2016)
Gamba, Bruno Faulin; Zechi-Ceide, Roseli Maria; Kokitsu-Nakata, Nancy Mizue; Vendramini-Pittoli, Siulan; Rosenberg, Carla ; Santos, Ana Carolina Alves dos; Ribeiro-Bicudo, Lucilene Arilho; Richieri-Costa, Antonio
Source: Molecular Syndromology. Unidades: HRAC, IB
Subjects: ANORMALIDADES CONGÊNITAS, MICROCEFALIA, DEFICIÊNCIA MENTAL, DELEÇÃO DE GENES
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ABNT
GAMBA, Bruno Faulin et al. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Molecular Syndromology, v. 7, n. 6, p. 344-348, 2016Tradução . . Disponível em: https://doi.org/10.1159/000450971. Acesso em: 16 nov. 2024.
APA
Gamba, B. F., Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Rosenberg, C., Santos, A. C. A. dos, et al. (2016). Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Molecular Syndromology, 7( 6), 344-348. doi:10.1159/000450971
NLM
Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Santos ACA dos, Ribeiro-Bicudo LA, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability [Internet]. Molecular Syndromology. 2016 ; 7( 6): 344-348.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1159/000450971
Vancouver
Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Santos ACA dos, Ribeiro-Bicudo LA, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability [Internet]. Molecular Syndromology. 2016 ; 7( 6): 344-348.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1159/000450971
Artigo de periodico
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies (2015)
Gamba, Bruno Faulin; Richieri-Costa, Antonio ; Costa, Silvia; Rosenberg, Carla ; Ribeiro-Bicudo, Lucilene Arilho
Source: Molecular Genetics and Genomics. Unidades: HRAC, IB
Subjects: DOENÇAS GENÉTICAS, CROMOSSOMOS HUMANOS (ANOMALIAS), MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GAMBA, Bruno Faulin et al. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, n. Ju 2015, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1007/s00438-015-1072-0. Acesso em: 16 nov. 2024.
APA
Gamba, B. F., Richieri-Costa, A., Costa, S., Rosenberg, C., & Ribeiro-Bicudo, L. A. (2015). Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, ( Ju 2015), on-line. doi:10.1007/s00438-015-1072-0
NLM
Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies [Internet]. Molecular Genetics and Genomics. 2015 ;( Ju 2015): on-line.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1007/s00438-015-1072-0
Vancouver
Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies [Internet]. Molecular Genetics and Genomics. 2015 ;( Ju 2015): on-line.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1007/s00438-015-1072-0
Artigo de periodico
A review of craniofacial disorders caused by spliceosomal defects (2015)
Lehallea, D.; Wieczorek, D.; Zechi-Ceide, Roseli Maria; Passos-Bueno, Maria Rita ; Lyonnet, S.; Amie, J.; Gordon, C.T.
Source: Clinical Genetics. Unidades: HRAC, IB
Subjects: ANOMALIA CRANIOFACIAL, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEHALLEA, D. et al. A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1111/cge.12596. Acesso em: 16 nov. 2024.
APA
Lehallea, D., Wieczorek, D., Zechi-Ceide, R. M., Passos-Bueno, M. R., Lyonnet, S., Amie, J., & Gordon, C. T. (2015). A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, on-line. doi:10.1111/cge.12596
NLM
Lehallea D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amie J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects [Internet]. Clinical Genetics. 2015 ; on-line.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1111/cge.12596
Vancouver
Lehallea D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amie J, Gordon CT. A review of craniofacial disorders caused by spliceosomal defects [Internet]. Clinical Genetics. 2015 ; on-line.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1111/cge.12596
Artigo de periodico
Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14 (2015)
Gamba, Bruno Faulin; Rosenberg, Carla ; Costa, S; Richieri-Costa, Antonio; Bicudo, Lucilene Arilho Ribeiro
Source: Molecular syndromology. Unidades: IB, HRAC
Subjects: FISSURA LÁBIOPALATINA, DELEÇÃO DE GENES, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GAMBA, Bruno Faulin et al. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Molecular syndromology, v. 6, n. 1, p. 39-43, 2015Tradução . . Disponível em: https://doi.org/10.1159/000371404. Acesso em: 16 nov. 2024.
APA
Gamba, B. F., Rosenberg, C., Costa, S., Richieri-Costa, A., & Bicudo, L. A. R. (2015). Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Molecular syndromology, 6( 1), 39-43. doi:10.1159/000371404
NLM
Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14 [Internet]. Molecular syndromology. 2015 ; 6( 1): 39-43.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1159/000371404
Vancouver
Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14 [Internet]. Molecular syndromology. 2015 ; 6( 1): 39-43.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1159/000371404
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: 16 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. 16 ] 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. 16 ] Available from: https://doi.org/10.1038/ejhg.2014.132
Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Unidades: HRAC, IB, HRACF
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 16 nov. 2024.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 16 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 16 ]
Trabalho de evento-resumo
Array-CGH analysis in brazilians patients with holoprosencephaly (2013)
Gamba, Bruno Faulin; Tragante, V; Bessão, C. O; Rocha, Ana Laís Bignotto; Richieri-Costa, Antonio ; Rosenberg, Carla ; Bicudo, Lucilene Arilho Ribeiro
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, IB, HRACF
Subjects: HOLOPROSENCEFALIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GAMBA, Bruno Faulin et al. Array-CGH analysis in brazilians patients with holoprosencephaly. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf. Acesso em: 16 nov. 2024.
APA
Gamba, B. F., Tragante, V., Bessão, C. O., Rocha, A. L. B., Richieri-Costa, A., Rosenberg, C., & Bicudo, L. A. R. (2013). Array-CGH analysis in brazilians patients with holoprosencephaly. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
NLM
Gamba BF, Tragante V, Bessão CO, Rocha ALB, Richieri-Costa A, Rosenberg C, Bicudo LAR. Array-CGH analysis in brazilians patients with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
Vancouver
Gamba BF, Tragante V, Bessão CO, Rocha ALB, Richieri-Costa A, Rosenberg C, Bicudo LAR. Array-CGH analysis in brazilians patients with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
Trabalho de evento-resumo
Recurrence risks in families with nonsydromic cleft lip and palate (2013)
Santos, Daniela Vera Cruz dos ; Lauris, José Roberto Pereira ; Otto, Paulo A ; Nakata, Nancy Mizue Kokitsu
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: FOB, IB, HRAC, HRACF
Subjects: FISSURA LÁBIOPALATINA, FAMÍLIA, GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Daniela Vera Cruz dos et al. Recurrence risks in families with nonsydromic cleft lip and palate. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/8921a9e0-5d5b-4266-bda7-da0dfe74ed02/2512563.pdf. Acesso em: 16 nov. 2024.
APA
Santos, D. V. C. dos, Lauris, J. R. P., Otto, P. A., & Nakata, N. M. K. (2013). Recurrence risks in families with nonsydromic cleft lip and palate. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/8921a9e0-5d5b-4266-bda7-da0dfe74ed02/2512563.pdf
NLM
Santos DVC dos, Lauris JRP, Otto PA, Nakata NMK. Recurrence risks in families with nonsydromic cleft lip and palate [Internet]. Anais. 2013 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/8921a9e0-5d5b-4266-bda7-da0dfe74ed02/2512563.pdf
Vancouver
Santos DVC dos, Lauris JRP, Otto PA, Nakata NMK. Recurrence risks in families with nonsydromic cleft lip and palate [Internet]. Anais. 2013 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/8921a9e0-5d5b-4266-bda7-da0dfe74ed02/2512563.pdf
Trabalho de evento-resumo
Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14 (2013)
Freitas, L. T; Gamba, Bruno Faulin; Rosenberg, Carla ; Richieri-Costa, Antonio ; Bicudo, Lucilene Arilho Ribeiro
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: IB, HRAC
Subjects: FISSURA LÁBIOPALATINA, FISSURA LÁBIOPALATINA, GENÉTICA, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FREITAS, L. T et al. Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf. Acesso em: 16 nov. 2024.
APA
Freitas, L. T., Gamba, B. F., Rosenberg, C., Richieri-Costa, A., & Bicudo, L. A. R. (2013). Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf
NLM
Freitas LT, Gamba BF, Rosenberg C, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14 [Internet]. Anais. 2013 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf
Vancouver
Freitas LT, Gamba BF, Rosenberg C, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14 [Internet]. Anais. 2013 ;[citado 2024 nov. 16 ] Available from: https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf
Artigo de periodico
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (2013)
Twigg, Stephen R. F.; Babbs, Christian; Elzen, Marijke E. P. van den; Goriely, Anne; Taylor, Stephen; McGowan, Simon J.; Giannoulatou, Eleni; Lonie, Lorne; Ragoussis, Jiannis; Akha, Elham Sadighi; Knight, Samantha J. L.; Zechi-Ceide, Roseli Maria ; Hoogeboom, Jeannette A. M.; Pober, Barbara R.; Toriello, Helga V.; Wall, Steven A.; Passos-Bueno, Maria Rita ; Brunner, Han G.; Mathijssen, Irene M. J.; Wilkie, Andrew O. M.
Source: Human Molecular Genetics. Unidades: HRAC, IB
Subjects: GENÉTICA, ANORMALIDADES MÚLTIPLAS, MUTAÇÃO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TWIGG, Stephen R. F. et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, v. 22, n. 8, p. 1654-1662, 2013Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddt015. Acesso em: 16 nov. 2024.
APA
Twigg, S. R. F., Babbs, C., Elzen, M. E. P. van den, Goriely, A., Taylor, S., McGowan, S. J., et al. (2013). Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, 22( 8), 1654-1662. doi:10.1093/hmg/ddt015
NLM
Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1093/hmg/ddt015
Vancouver
Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1093/hmg/ddt015
Artigo de periodico
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion (2012)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio ; Jehee, Fernanda Sarquis; Passos-Bueno, Maria Rita ; Zechi-Ceide, Roseli Maria
Source: American Journal of Medical Genetics Part A. Unidades: HRAC, IB
Subjects: AGENESIA, ANORMALIDADES CRANIOFACIAIS, LÁBIO FISSURADO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine et al. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, v. 158A, n. 7, p. 1676-1679, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35351. Acesso em: 16 nov. 2024.
APA
Guion-Almeida, M. L., Richieri-Costa, A., Jehee, F. S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2012). Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, 158A( 7), 1676-1679. doi:10.1002/ajmg.a.35351
NLM
Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1676-1679.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.35351
Vancouver
Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1676-1679.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.35351
Artigo de periodico
Auriculo-condylar syndrome: confronting a diagnostic challenge (2012)
Nakata, Nancy Mizue Kokitsu ; Zechi-Ceide, Roseli Maria ; Pittoli, Siulan Vendramini Paulovich ; Tavares, Vanessa Luiza Romanelli ; Passos-Bueno, Maria Rita ; Guion-Almeida, Maria Leine
Source: American Journal of Medical Genetics Part A. Unidades: IB, HRAC
Subjects: MALFORMAÇÕES, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu et al. Auriculo-condylar syndrome: confronting a diagnostic challenge. American Journal of Medical Genetics Part A, v. 158 A, n. Ja 2012, p. 59-65, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.34337. Acesso em: 16 nov. 2024.
APA
Nakata, N. M. K., Zechi-Ceide, R. M., Pittoli, S. V. P., Tavares, V. L. R., Passos-Bueno, M. R., & Guion-Almeida, M. L. (2012). Auriculo-condylar syndrome: confronting a diagnostic challenge. American Journal of Medical Genetics Part A, 158 A( Ja 2012), 59-65. doi:10.1002/ajmg.a.34337
NLM
Nakata NMK, Zechi-Ceide RM, Pittoli SVP, Tavares VLR, Passos-Bueno MR, Guion-Almeida ML. Auriculo-condylar syndrome: confronting a diagnostic challenge [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158 A( Ja 2012): 59-65.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.34337
Vancouver
Nakata NMK, Zechi-Ceide RM, Pittoli SVP, Tavares VLR, Passos-Bueno MR, Guion-Almeida ML. Auriculo-condylar syndrome: confronting a diagnostic challenge [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158 A( Ja 2012): 59-65.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1002/ajmg.a.34337

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