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Trabalho de evento-resumo periodico
MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis (2022)
Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue; Alvarez, Camila Wenceslau ; Migliore, Chiara; Rafacho, Marina Bigeli ; Siemann, Maria Eugênia; Candido-Souza, Rosana Maria; Vendramini-Pittoli, Siulan; Tonello, Cristiano ; Maximino, Luciana Paula ; Meroni, Germana; Guion-Almeida, Maria Leine; Opitz, John M.; Richieri-Costa, Antonio
Fonte: European Journal of Human Genetics. Nome do evento: European Society of Human Genetics. Unidades: HRAC, FOB, HRACF
Assuntos: FISSURA LÁBIOPALATINA, HIPERTELORISMO, TRIAGEM, GENÉTICA
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ABNT
ZECHI-CEIDE, Roseli Maria et al. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis. European Journal of Human Genetics. London: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf. Acesso em: 27 abr. 2024. , 2022
APA
Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Alvarez, C. W., Migliore, C., Rafacho, M. B., Siemann, M. E., et al. (2022). MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis. European Journal of Human Genetics. London: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
NLM
Zechi-Ceide RM, Kokitsu-Nakata NM, Alvarez CW, Migliore C, Rafacho MB, Siemann ME, Candido-Souza RM, Vendramini-Pittoli S, Tonello C, Maximino LP, Meroni G, Guion-Almeida ML, Opitz JM, Richieri-Costa A. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis [Internet]. European Journal of Human Genetics. 2022 ; 30 349-350.[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
Vancouver
Zechi-Ceide RM, Kokitsu-Nakata NM, Alvarez CW, Migliore C, Rafacho MB, Siemann ME, Candido-Souza RM, Vendramini-Pittoli S, Tonello C, Maximino LP, Meroni G, Guion-Almeida ML, Opitz JM, Richieri-Costa A. MID1 gene variations in a Brazilian cohort with cleft lip with or without palate and ocular hypertelorism: implication for diagnosis [Internet]. European Journal of Human Genetics. 2022 ; 30 349-350.[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
Artigo de periodico
Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate (2021)
Bodoni, Patrícia Soares Baltazar ; Leoni, Renata Ferranti; Vale, Arthur Bernardi; Silva, Pedro Henrique Rodrigues; Meira Junior, Silvio Garcia; Richieri Costa, Antonio; Tabaquim, Maria de Lourdes Merighi
Fonte: Child Neuropsychology. Unidades: FFCLRP, HRACF, FOB, HRAC
Assuntos: NEUROPSICOLOGIA, ANATOMIA, CÉREBRO, CRIANÇAS, ADOLESCENTES, FISSURA LÁBIOPALATINA, FISSURA PALATINA, COGNIÇÃO, RESSONÂNCIA MAGNÉTICA
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ABNT
BODONI, Patrícia Soares Baltazar et al. Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate. Child Neuropsychology, v. 27, n. 1, p. 02-16, 2021Tradução . . Disponível em: https://doi.org/10.1080/09297049.2020.1776240. Acesso em: 27 abr. 2024.
APA
Bodoni, P. S. B., Leoni, R. F., Vale, A. B., Silva, P. H. R., Meira Junior, S. G., Richieri Costa, A., & Tabaquim, M. de L. M. (2021). Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate. Child Neuropsychology, 27( 1), 02-16. doi:10.1080/09297049.2020.1776240
NLM
Bodoni PSB, Leoni RF, Vale AB, Silva PHR, Meira Junior SG, Richieri Costa A, Tabaquim M de LM. Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate [Internet]. Child Neuropsychology. 2021 ; 27( 1): 02-16.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1080/09297049.2020.1776240
Vancouver
Bodoni PSB, Leoni RF, Vale AB, Silva PHR, Meira Junior SG, Richieri Costa A, Tabaquim M de LM. Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate [Internet]. Child Neuropsychology. 2021 ; 27( 1): 02-16.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1080/09297049.2020.1776240
Artigo de periodico
Hyoid bone position and head posture in patients with Richieri-Costa Pereira syndrome (EIF4A3 mutations) (2020)
Pinto, Rayane de Oliveira ; Peixoto, Adriano Porto; Pinto, Ary dos Santos; Richieri-Costa, Antonio ; Raveli, Dirceu Barnabé; Tonello, Cristiano ; Dalben, Gisele da Silva
Fonte: The Journal of Craniofacial Surgery. Unidades: HRAC, HRACF
Assuntos: CEFALOMETRIA, ANOMALIA CRANIOFACIAL, OSSOS FACIAIS, APNEIA DO SONO TIPO OBSTRUTIVA
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ABNT
PINTO, Rayane de Oliveira et al. Hyoid bone position and head posture in patients with Richieri-Costa Pereira syndrome (EIF4A3 mutations). The Journal of Craniofacial Surgery, v. 31, n. 4, p. e356-e359, 2020Tradução . . Disponível em: https://doi.org/10.1097/SCS.0000000000006338. Acesso em: 27 abr. 2024.
APA
Pinto, R. de O., Peixoto, A. P., Pinto, A. dos S., Richieri-Costa, A., Raveli, D. B., Tonello, C., & Dalben, G. da S. (2020). Hyoid bone position and head posture in patients with Richieri-Costa Pereira syndrome (EIF4A3 mutations). The Journal of Craniofacial Surgery, 31( 4), e356-e359. doi:10.1097/SCS.0000000000006338
NLM
Pinto R de O, Peixoto AP, Pinto A dos S, Richieri-Costa A, Raveli DB, Tonello C, Dalben G da S. Hyoid bone position and head posture in patients with Richieri-Costa Pereira syndrome (EIF4A3 mutations) [Internet]. The Journal of Craniofacial Surgery. 2020 ; 31( 4): e356-e359.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1097/SCS.0000000000006338
Vancouver
Pinto R de O, Peixoto AP, Pinto A dos S, Richieri-Costa A, Raveli DB, Tonello C, Dalben G da S. Hyoid bone position and head posture in patients with Richieri-Costa Pereira syndrome (EIF4A3 mutations) [Internet]. The Journal of Craniofacial Surgery. 2020 ; 31( 4): e356-e359.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1097/SCS.0000000000006338
Artigo de periodico
Turner syndrome in diverse populations (2020)
Kruszka, Paul ; Addissie, Yonit A; Tekendo-Ngongang, Cedrik; Jones, Kelly L ; Savage, Sarah K.; Gupta, Neerja; Sirisena, Nirmala D; Dissanayake, Vajira H. W; Paththinige, C. Sampath; Aravena, Teresa; Nampoothiri, Sheela; Yesodharan, Dhanya; Girisha, Katta M ; Patil, Siddaramappa Jagdish ; Jamuar, Saumya Shekhar ; Goh, Jasmine Chew-Yin; Utari, Agustini ; Sihombing, Nydia; Mishra, Rupesh; Chitrakar, Neer Shoba; Iriele, Brenda C.; Lulseged, Ezana; Megarbane, Andre ; Uwineza, Annette; Oyenusi, Elizabeth Eberechi; Olopade, Oluwarotimi Bolaji; Fasanmade, Olufemi Adetola; Duenas-Roque, Milagros M.; Thong, Meow-Keong; Tung, Joanna Y. L; Mok, Gary T. K; Fleischer, Nicole; Rwegerera, Godfrey M; Herreros, María Beatriz; Watts, Johnathan; Fieggen, Karen; Huckstadt, Victoria; Moresco, Angélica; Obregon, María Gabriela; Hussen, Dalia Farouk; Ashaat, Neveen A ; Ashaat, Engy A. ; Chung, Brian H. Y; Badoe, Eben; Faradz, Sultana M. H; El Ruby, Mona O; Shotelersuk, Vorasuk; Wonkam, Ambroise; Ekure, Ekanem Nsikak; Phadke, Shubha R; Richieri-Costa, Antonio ; Muenke, Maximilian
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANÁLISE FACIAL, GENÉTICA DE POPULAÇÕES, FENÓTIPOS, ANORMALIDADES CONGÊNITAS, SÍNDROME DE NOONAN
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ABNT
KRUSZKA, Paul et al. Turner syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 182A, n. 2, p. 303-313, 2020Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.61461. Acesso em: 27 abr. 2024.
APA
Kruszka, P., Addissie, Y. A., Tekendo-Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., et al. (2020). Turner syndrome in diverse populations. American Journal of Medical Genetics. Part A, 182A( 2), 303-313. doi:10.1002/ajmg.a.61461
NLM
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC-Y, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong M-K, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2020 ; 182A( 2): 303-313.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.61461
Vancouver
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC-Y, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong M-K, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2020 ; 182A( 2): 303-313.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.61461
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
Fonte: Journal of Pediatric Genetics. Unidades: HRAC, HRACF
Assuntos: 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: 27 abr. 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 abr. 27 ] 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 abr. 27 ] 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
Fonte: American Journal of Medical Genetics. Unidades: HRAC, HRACF
Assuntos: GENÉTICA, HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 27 abr. 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 abr. 27 ] 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 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Artigo de periodico
Craniofacial morphology in patients with opitz G/BBB syndrome (2019)
Dalben, Gisele da Silva ; Garib, Daniela Gamba ; Pinto, Rayane de Oliveira ; Richieri-Costa, Antonio ; Taveira, Luís Antônio de Assis
Fonte: Cleft Palate-Craniofacial Journal. Unidades: HRAC, FOB
Assuntos: CEFALOMETRIA, FISSURA LÁBIOPALATINA, ANOMALIA CRANIOFACIAL, MORFOLOGIA (ANATOMIA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DALBEN, Gisele da Silva et al. Craniofacial morphology in patients with opitz G/BBB syndrome. Cleft Palate-Craniofacial Journal, v. no 2019, n. 10, p. 1366-1372, 2019Tradução . . Disponível em: https://doi.org/10.1177/1055665619857001. Acesso em: 27 abr. 2024.
APA
Dalben, G. da S., Garib, D. G., Pinto, R. de O., Richieri-Costa, A., & Taveira, L. A. de A. (2019). Craniofacial morphology in patients with opitz G/BBB syndrome. Cleft Palate-Craniofacial Journal, no 2019( 10), 1366-1372. doi:10.1177/1055665619857001
NLM
Dalben G da S, Garib DG, Pinto R de O, Richieri-Costa A, Taveira LA de A. Craniofacial morphology in patients with opitz G/BBB syndrome [Internet]. Cleft Palate-Craniofacial Journal. 2019 ; no 2019( 10): 1366-1372.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1177/1055665619857001
Vancouver
Dalben G da S, Garib DG, Pinto R de O, Richieri-Costa A, Taveira LA de A. Craniofacial morphology in patients with opitz G/BBB syndrome [Internet]. Cleft Palate-Craniofacial Journal. 2019 ; no 2019( 10): 1366-1372.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1177/1055665619857001
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
Fonte: Utrecht: European Cleft Palate Craniofacial Association, 2019. Nome do evento: European Cleft Palate Craniofacial Association Congress. Unidade: HRAC
Assuntos: 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: 27 abr. 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 abr. 27 ] 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 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/2f17e911-522c-4ebf-b07d-80b7f922a17c/2963227.pdf
Trabalho de evento-resumo
Robin sequence, atypical face and intellectual disability in Brazilian siblings (2019)
Sandri, Rosana Maria Cândido de Souza ; Rafacho, Marina Bigeli ; Maximino, Luciana Paula ; Richieri-Costa, Antonio ; Zechi-Ceide, Roseli Maria
Fonte: Abstract Book. Nome do evento: European Cleft Palate Craniofacial Association Congress. Unidades: FOB, HRAC, HRACF
Assuntos: SÍNDROME DE PIERRE ROBIN, PESSOAS COM DEFICIÊNCIA INTELECTUAL, GÊMEOS, ANOMALIA FACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANDRI, Rosana Maria Cândido de Souza et al. Robin sequence, atypical face and intellectual disability in Brazilian siblings. 2019, Anais.. Utrecht: Faculdade de Odontologia de Bauru, Universidade de São Paulo, 2019. Disponível em: https://repositorio.usp.br/directbitstream/fcef6e1b-d54d-4744-95d4-4ad712b7610f/2962403.pdf. Acesso em: 27 abr. 2024.
APA
Sandri, R. M. C. de S., Rafacho, M. B., Maximino, L. P., Richieri-Costa, A., & Zechi-Ceide, R. M. (2019). Robin sequence, atypical face and intellectual disability in Brazilian siblings. In Abstract Book. Utrecht: Faculdade de Odontologia de Bauru, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/fcef6e1b-d54d-4744-95d4-4ad712b7610f/2962403.pdf
NLM
Sandri RMC de S, Rafacho MB, Maximino LP, Richieri-Costa A, Zechi-Ceide RM. Robin sequence, atypical face and intellectual disability in Brazilian siblings [Internet]. Abstract Book. 2019 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/fcef6e1b-d54d-4744-95d4-4ad712b7610f/2962403.pdf
Vancouver
Sandri RMC de S, Rafacho MB, Maximino LP, Richieri-Costa A, Zechi-Ceide RM. Robin sequence, atypical face and intellectual disability in Brazilian siblings [Internet]. Abstract Book. 2019 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/fcef6e1b-d54d-4744-95d4-4ad712b7610f/2962403.pdf
Trabalho de evento-resumo
Three-dimensional analysis of rare facial cleft and association with hard tissue and soft tissue (2019)
Moura, Priscila Padilha; Zechi-Ceide, Roseli Maria ; Peixoto, Adriano Porto; Tonello, Cristiano; Richieri-Costa, Antonio ; Garib, Daniela Gamba
Fonte: Utrecht: European Cleft Palate Craniofacial Association, 2019. Nome do evento: European Cleft Palate Craniofacial Association Congress. Unidades: HRAC, FOB
Assuntos: TERCEIRA DIMENSÃO, FISSURA LÁBIOPALATINA, PALATO MOLE, PALATO DURO, MORFOLOGIA (ANATOMIA)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOURA, Priscila Padilha et al. Three-dimensional analysis of rare facial cleft and association with hard tissue and soft tissue. 2019, Anais.. Utrecht: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2019. Disponível em: https://repositorio.usp.br/directbitstream/ca8935ed-6f14-4ec1-8560-2891f1637dbb/2962425.pdf. Acesso em: 27 abr. 2024.
APA
Moura, P. P., Zechi-Ceide, R. M., Peixoto, A. P., Tonello, C., Richieri-Costa, A., & Garib, D. G. (2019). Three-dimensional analysis of rare facial cleft and association with hard tissue and soft tissue. 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/ca8935ed-6f14-4ec1-8560-2891f1637dbb/2962425.pdf
NLM
Moura PP, Zechi-Ceide RM, Peixoto AP, Tonello C, Richieri-Costa A, Garib DG. Three-dimensional analysis of rare facial cleft and association with hard tissue and soft tissue [Internet]. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/ca8935ed-6f14-4ec1-8560-2891f1637dbb/2962425.pdf
Vancouver
Moura PP, Zechi-Ceide RM, Peixoto AP, Tonello C, Richieri-Costa A, Garib DG. Three-dimensional analysis of rare facial cleft and association with hard tissue and soft tissue [Internet]. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/ca8935ed-6f14-4ec1-8560-2891f1637dbb/2962425.pdf
Artigo de periodico
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling (2018)
Roessler, Erich; Hu, Ping; Marino, Juliana; Hong, Sungkook; Hart, Rachel; Berger, Seth; Martinez , Ariel; Abe, Yu; Kruszka, Paul; Thomas, James W; Mullikin, James C; NISC Comparative Sequencing Program; Wang, Yupeng; Wong, Wendy S. W; Niederhuber, John E; Solomon, Benjamin D; Richieri-Costa, Antonio; Bicudo, Lucilene Arilho Ribeiro; Muenke, Maximilian
Fonte: Human Mutation. Unidade: HRAC
Assuntos: HOLOPROSENCEFALIA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROESSLER, Erich et al. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, v. 39, n. 10, p. 1416-1427, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23590. Acesso em: 27 abr. 2024.
APA
Roessler, E., Hu, P., Marino, J., Hong, S., Hart, R., Berger, S., et al. (2018). Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Human Mutation, 39( 10), 1416-1427. doi:10.1002/humu.23590
NLM
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/humu.23590
Vancouver
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, Martinez A, Abe Y, Kruszka P, Thomas JW, Mullikin JC, NISC Comparative Sequencing Program, Wang Y, Wong WSW, Niederhuber JE, Solomon BD, Richieri-Costa A, Bicudo LAR, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling [Internet]. Human Mutation. 2018 ; 39( 10): 1416-1427.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/humu.23590
Artigo de periodico
Cephalometric findings in nine individuals with Richieri-Costa-Pereira syndrome (2018)
Pinto, Rayane de Oliveira; Peixoto, Adriano Porto; Pinto, Ary dos Santos; Richieri-Costa, Antonio; Ceide, Roseli Maria Zechi; Ozawa, Terumi Okada; Dalben, Gisele da Silva
Fonte: The Journal of Craniofacial Surgery. Unidades: HRAC, HRACF
Assuntos: ANORMALIDADES CRANIOFACIAIS, MICROGNATISMO, DISOSTOSE CRÂNIOFACIAL, ANORMALIDADES MÚLTIPLAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PINTO, Rayane de Oliveira et al. Cephalometric findings in nine individuals with Richieri-Costa-Pereira syndrome. The Journal of Craniofacial Surgery, v. 29, n. 6, p. 1596-1600, 2018Tradução . . Disponível em: https://doi.org/10.1097/SCS.0000000000004588. Acesso em: 27 abr. 2024.
APA
Pinto, R. de O., Peixoto, A. P., Pinto, A. dos S., Richieri-Costa, A., Ceide, R. M. Z., Ozawa, T. O., & Dalben, G. da S. (2018). Cephalometric findings in nine individuals with Richieri-Costa-Pereira syndrome. The Journal of Craniofacial Surgery, 29( 6), 1596-1600. doi:10.1097/SCS.0000000000004588
NLM
Pinto R de O, Peixoto AP, Pinto A dos S, Richieri-Costa A, Ceide RMZ, Ozawa TO, Dalben G da S. Cephalometric findings in nine individuals with Richieri-Costa-Pereira syndrome [Internet]. The Journal of Craniofacial Surgery. 2018 ; 29( 6): 1596-1600.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1097/SCS.0000000000004588
Vancouver
Pinto R de O, Peixoto AP, Pinto A dos S, Richieri-Costa A, Ceide RMZ, Ozawa TO, Dalben G da S. Cephalometric findings in nine individuals with Richieri-Costa-Pereira syndrome [Internet]. The Journal of Craniofacial Surgery. 2018 ; 29( 6): 1596-1600.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1097/SCS.0000000000004588
Artigo de periodico
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome (2018)
Kievit, Anneke; Tessadori, Federico; Douben, Hannie; Jordens, Ingrid; Maurice, Madelon; Hoogeboom, Jeannette; Hennekam, Raoul; Nampoothiri, Sheela; Kayserili, Hülya; Castori, Marco; Whiteford, Margo; Motter, Connie; Melver, Catherine; Cunningham, Michael; Hing, Anne; Nakata, Nancy Mizue Kokitsu; Pittoli, Siulan Vendramini Paulovich; Richieri-Costa, Antonio; Baas, Annette F.; Breugem, Corstiaan C. ; Duran, Karen; Massink, Maarten; Derksen, Patrick W. B.; IJcken, Wilfred F. J. van; Unen, Leontine van; Simarro, Fernando Santos; Lapunzina, Pablo; Lopes, Vera Lúcia Gil da Silva; Mendes, Elaine Lustosa; Krall, Max; Slavotinek, Anne; Victor Martinez-Glez; Bakkers, Jeroen; Gassen, Koen L. I. van; Klein, Annelies de; Boogaard, Marie-José H. van den; Haaften, Gijs van
Fonte: European Journal of Human Genetics. Unidade: HRAC
Assuntos: MUTAÇÃO GENÉTICA, ANOMALIA DENTÁRIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KIEVIT, Anneke et al. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European Journal of Human Genetics, v. 26, n. 2, p. 210-219, 2018Tradução . . Disponível em: https://doi.org/10.1038/s41431-017-0010-5. Acesso em: 27 abr. 2024.
APA
Kievit, A., Tessadori, F., Douben, H., Jordens, I., Maurice, M., Hoogeboom, J., et al. (2018). Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European Journal of Human Genetics, 26( 2), 210-219. doi:10.1038/s41431-017-0010-5
NLM
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Nakata NMK, Pittoli SVP, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, IJcken WFJ van, Unen L van, Simarro FS, Lapunzina P, Lopes VLG da S, Mendes EL, Krall M, Slavotinek A, Victor Martinez-Glez, Bakkers J, Gassen KLI van, Klein A de, Boogaard M-JH van den, Haaften G van. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome [Internet]. European Journal of Human Genetics. 2018 ; 26( 2): 210-219.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1038/s41431-017-0010-5
Vancouver
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Nakata NMK, Pittoli SVP, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, IJcken WFJ van, Unen L van, Simarro FS, Lapunzina P, Lopes VLG da S, Mendes EL, Krall M, Slavotinek A, Victor Martinez-Glez, Bakkers J, Gassen KLI van, Klein A de, Boogaard M-JH van den, Haaften G van. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome [Internet]. European Journal of Human Genetics. 2018 ; 26( 2): 210-219.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1038/s41431-017-0010-5
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
Fonte: Human Molecular Genetics. Unidades: HRAC, IB
Assuntos: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MODELOS ANIMAIS, MALFORMAÇÕES, DISOSTOSE MANDIBULOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 27 abr. 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 abr. 27 ] 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 abr. 27 ] Available from: https://doi.org/10.1093/hmg/ddx078
Artigo de periodico
22q11.2 deletion syndrome in diverse populations (2017)
Kruszka, Paul; Addissie, Yonit A.; McGinn, Daniel E.; Porras, Antonio R.; Biggs, Elijah; Share, Matthew; Crowley, T. Blaine; Chung, Brian H. Y.; Mok, Gary T. K.; Mak, Christopher C. Y.; Muthukumarasamy, Premala; Thong, Meow-Keong; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Prabodha, L. B. Lahiru; Mishra, Rupesh; Shotelersuk, Vorasuk; Ekure, Ekanem Nsikak; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Ferreira, Carlos R.; Duncan, Jordann-Mishael; Patil, Siddaramappa Jagdish; Jones, Kelly L.; Kaplan, Julie D.; Abdul-Rahman, Omar A.; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Richieri-Costa, Antonio; Gil-da-Silva-Lopes, Vera Lúcia; Adeyemo, Adebowale A.; Summar, Marshall; Zackai, Elaine H.; McDonald-McGinn, Donna M.; Linguraru, Marius George; Muenke, Maximilian
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assuntos: ANÁLISE FACIAL, FENÓTIPOS, ANÁLISE FACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KRUSZKA, Paul et al. 22q11.2 deletion syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 173, n. 4, p. 879-888, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38199. Acesso em: 27 abr. 2024.
APA
Kruszka, P., Addissie, Y. A., McGinn, D. E., Porras, A. R., Biggs, E., Share, M., et al. (2017). 22q11.2 deletion syndrome in diverse populations. American Journal of Medical Genetics. Part A, 173( 4), 879-888. doi:10.1002/ajmg.a.38199
NLM
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BHY, Mok GTK, Mak CCY, Muthukumarasamy P, Thong M-K, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan J-M, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 4): 879-888.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.38199
Vancouver
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BHY, Mok GTK, Mak CCY, Muthukumarasamy P, Thong M-K, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan J-M, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. 22q11.2 deletion syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 4): 879-888.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.38199
Artigo de periodico
Down Syndrome in diverse populations (2017)
Kruszka, Paul; Porras, Antonio R.; Sobering, Andrew K.; Ikolo, Felicia A.; Qua, Samantha La; Shotelersuk, Vorasuk; Chung, Brian H. Y.; Mok, Gary T. K.; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Joseph, Daniel Akinsanya; Ikebudu, Desmond; Ugwu, Christopher Emeka; Okoromah, Christy A. N.; Addissie, Yonit A.; Pardo, Katherine L.; Brough, J. Joseph; Lee, Ni-Chung; Girisha, Katta M.; Patil, Siddaramappa Jagdish; Ng, Ivy S. L.; Min, Breana Cham Wen; Jamuar, Saumya S.; Tibrewal, Shailja; Wallang, Batriti; Ganesh, Suma; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Paththinige, C. Sampath; Prabodha, L. B. Lahiru; Richieri-Costa, Antonio; Muthukumarasamy, Premala; Thong, Meow-Keong; Jones, Kelly L.; Abdul-Rahman, Omar A.; Ekure, Ekanem Nsikak; Adeyemo, Adebowale A.; Summar, Marshall; Linguraru, Marius George; Muenke, Maximilian
Fonte: American Journal of Medical Genetics. Part A. Unidade: HRAC
Assunto: SÍNDROME DE DOWN
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KRUSZKA, Paul et al. Down Syndrome in diverse populations. American Journal of Medical Genetics. Part A, v. 173, n. Ja/2017, p. 42-53, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38043. Acesso em: 27 abr. 2024.
APA
Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., Qua, S. L., Shotelersuk, V., et al. (2017). Down Syndrome in diverse populations. American Journal of Medical Genetics. Part A, 173( Ja/2017), 42-53. doi:10.1002/ajmg.a.38043
NLM
Kruszka P, Porras AR, Sobering AK, Ikolo FA, Qua SL, Shotelersuk V, Chung BHY, Mok GTK, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CAN, Addissie YA, Pardo KL, Brough JJ, Lee N-C, Girisha KM, Patil SJ, Ng ISL, Min BCW, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Richieri-Costa A, Muthukumarasamy P, Thong M-K, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down Syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( Ja/2017): 42-53.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.38043
Vancouver
Kruszka P, Porras AR, Sobering AK, Ikolo FA, Qua SL, Shotelersuk V, Chung BHY, Mok GTK, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CAN, Addissie YA, Pardo KL, Brough JJ, Lee N-C, Girisha KM, Patil SJ, Ng ISL, Min BCW, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Richieri-Costa A, Muthukumarasamy P, Thong M-K, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down Syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( Ja/2017): 42-53.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1002/ajmg.a.38043
Artigo de periodico
Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings (2017)
Richieri-Costa, Antonio; Pittoli, Siulan Vendramini Paulovich; Nakata, Nancy Mizue Kokitsu; Ceide, Roseli Maria Zechi; Alvarez, Camila Wenceslau; Bicudo, Lucilene Arilho Ribeiro
Fonte: Journal of Pediatric Genetics. Unidade: HRAC
Assuntos: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio et al. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, v. 6, n. 2, p. 103-106, 2017Tradução . . Disponível em: https://doi.org/10.1055/s-0036-1588028. Acesso em: 27 abr. 2024.
APA
Richieri-Costa, A., Pittoli, S. V. P., Nakata, N. M. K., Ceide, R. M. Z., Alvarez, C. W., & Bicudo, L. A. R. (2017). Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, 6( 2), 103-106. doi:10.1055/s-0036-1588028
NLM
Richieri-Costa A, Pittoli SVP, Nakata NMK, Ceide RMZ, Alvarez CW, Bicudo LAR. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings [Internet]. Journal of Pediatric Genetics. 2017 ; 6( 2): 103-106.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1055/s-0036-1588028
Vancouver
Richieri-Costa A, Pittoli SVP, Nakata NMK, Ceide RMZ, Alvarez CW, Bicudo LAR. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings [Internet]. Journal of Pediatric Genetics. 2017 ; 6( 2): 103-106.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1055/s-0036-1588028
Trabalho de evento
Síndrome da fibromatose hialina: uma causa rara de disfagia e atraso de desenvolvimento (2017)
Batistão, Guilherme Trindade; Baptista, Marco Antônio Ferraz de Barros; Martins, Danilo Augusto Nery dos Passos; Nakata, Nancy Mizue Kokitsu; Richieri-Costa, Antonio; Schneider, Emilio Gabriel Ferro; Tonello, Cristiano
Fonte: Anais. Nome do evento: Congresso Brasileiro de Otorrinolaringologia e Cirurgia Cérvico Facial. Unidade: HRAC
Assuntos: TRANSTORNOS DE DEGLUTIÇÃO, DESENVOLVIMENTO INFANTIL, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BATISTÃO, Guilherme Trindade et al. Síndrome da fibromatose hialina: uma causa rara de disfagia e atraso de desenvolvimento. 2017, Anais.. Florianópolis: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017. Disponível em: https://repositorio.usp.br/directbitstream/892cdfd4-0ee9-4aab-b522-b0270b9a7a66/2936123.pdf. Acesso em: 27 abr. 2024.
APA
Batistão, G. T., Baptista, M. A. F. de B., Martins, D. A. N. dos P., Nakata, N. M. K., Richieri-Costa, A., Schneider, E. G. F., & Tonello, C. (2017). Síndrome da fibromatose hialina: uma causa rara de disfagia e atraso de desenvolvimento. In Anais. Florianópolis: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/892cdfd4-0ee9-4aab-b522-b0270b9a7a66/2936123.pdf
NLM
Batistão GT, Baptista MAF de B, Martins DAN dos P, Nakata NMK, Richieri-Costa A, Schneider EGF, Tonello C. Síndrome da fibromatose hialina: uma causa rara de disfagia e atraso de desenvolvimento [Internet]. Anais. 2017 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/892cdfd4-0ee9-4aab-b522-b0270b9a7a66/2936123.pdf
Vancouver
Batistão GT, Baptista MAF de B, Martins DAN dos P, Nakata NMK, Richieri-Costa A, Schneider EGF, Tonello C. Síndrome da fibromatose hialina: uma causa rara de disfagia e atraso de desenvolvimento [Internet]. Anais. 2017 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/892cdfd4-0ee9-4aab-b522-b0270b9a7a66/2936123.pdf
Trabalho de evento
Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? (2017)
Crês, Maria Cristina; Richieri-Costa, Antonio; Monteiro, Rejane Alves de Carvalho; Zechi-Ceide, Roseli Maria; Mazzeu, Juliana Forte; Jehee, Fernanda Sarquis
Fonte: Anais. Nome do evento: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, HRACF
Assuntos: HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CRÊS, Maria Cristina et al. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? 2017, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017. Disponível em: https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf. Acesso em: 27 abr. 2024.
APA
Crês, M. C., Richieri-Costa, A., Monteiro, R. A. de C., Zechi-Ceide, R. M., Mazzeu, J. F., & Jehee, F. S. (2017). Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf
NLM
Crês MC, Richieri-Costa A, Monteiro RA de C, Zechi-Ceide RM, Mazzeu JF, Jehee FS. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? [Internet]. Anais. 2017 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf
Vancouver
Crês MC, Richieri-Costa A, Monteiro RA de C, Zechi-Ceide RM, Mazzeu JF, Jehee FS. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? [Internet]. Anais. 2017 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf
Trabalho de evento
Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation (2017)
Alvarez, Camila Wenceslau; Ceide, Roseli Maria Zechi; Nakata, Nancy Mizue Kokitsu; Pittoli, Siulan Vendramini Paulovich; Siemann, Maria Eugênia; Migliore, Chiara; Meroni, Germana; Richieri-Costa, Antonio
Fonte: Anais. Nome do evento: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC
Assuntos: ANORMALIDADES CRANIOFACIAIS, EVOLUÇÃO FENOTÍPICA, FISSURA LÁBIOPALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ALVAREZ, Camila Wenceslau et al. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation. 2017, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017. Disponível em: https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf. Acesso em: 27 abr. 2024.
APA
Alvarez, C. W., Ceide, R. M. Z., Nakata, N. M. K., Pittoli, S. V. P., Siemann, M. E., Migliore, C., et al. (2017). Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation. In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf
NLM
Alvarez CW, Ceide RMZ, Nakata NMK, Pittoli SVP, Siemann ME, Migliore C, Meroni G, Richieri-Costa A. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation [Internet]. Anais. 2017 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf
Vancouver
Alvarez CW, Ceide RMZ, Nakata NMK, Pittoli SVP, Siemann ME, Migliore C, Meroni G, Richieri-Costa A. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation [Internet]. Anais. 2017 ;[citado 2024 abr. 27 ] Available from: https://repositorio.usp.br/directbitstream/2844e2cb-fa32-4006-bf31-4841d02ceecb/2938516.pdf

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