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Artigo de periodico
Turner syndrome in diverse populations (2020)
Kruszka, Paul ; 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; 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
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANÁLISE FACIAL, GENÉTICA DE POPULAÇÕES, FENÓTIPOS, ANORMALIDADES CONGÊNITAS, SÍNDROME DE NOONAN
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ABNT
KRUSZKA, Paul; OBREGON, María Gabriela; HUSSEN, Dalia Farouk; et al. Turner syndrome in diverse populations. American Journal of Medical Genetics. Part A, Hoboken, v. 182A, n. 2, p. 303-313, 2020. Disponível em: < https://doi.org/10.1002/ajmg.a.61461 > DOI: 10.1002/ajmg.a.61461.
APA
Kruszka, P., Obregon, M. G., Hussen, D. F., Ashaat, N. A., Ashaat, E. A., Chung, B. H. Y., 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, 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, 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. Turner syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2020 ; 182A( 2): 303-313.Available from: https://doi.org/10.1002/ajmg.a.61461
Vancouver
Kruszka P, 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, 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. Turner syndrome in diverse populations [Internet]. American Journal of Medical Genetics. Part A. 2020 ; 182A( 2): 303-313.Available from: https://doi.org/10.1002/ajmg.a.61461
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
Source: The Journal of Craniofacial Surgery. Unidades: HRAC, HRACF
Subjects: CEFALOMETRIA, ANOMALIA CRANIOFACIAL, OSSOS FACIAIS, APNEIA DO SONO TIPO OBSTRUTIVA
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ABNT
PINTO, Rayane de Oliveira; PEIXOTO, Adriano Porto; PINTO, Ary dos Santos; et al. Hyoid bone position and head posture in patients with Richieri-Costa Pereira syndrome (EIF4A3 mutations). The Journal of Craniofacial Surgery, Hagerstown, v. 31, n. 4, p. e356-e359, 2020. Disponível em: < http://dx.doi.org/10.1097/SCS.0000000000006338 > DOI: 10.1097/SCS.0000000000006338.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1097/SCS.0000000000006338
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; ZECHI-CEIDE, Roseli Maria; SOUZA, Rosana Maria Candido; et al. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: genetic evaluation of a possible new syndrome. American Journal of Medical Genetics, Hoboken, v. No 2019, n. 11, p. 2170-2177, 2019. Disponível em: < https://doi.org/10.1002/ajmg.a.61305 > DOI: 10.1002/ajmg.a.61305.
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.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.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
Source: Cleft Palate-Craniofacial Journal. Unidades: HRAC, FOB
Subjects: CEFALOMETRIA, FISSURA LÁBIOPALATINA, ANOMALIA CRANIOFACIAL, MORFOLOGIA (ANATOMIA)
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ABNT
DALBEN, Gisele da Silva; GARIB, Daniela Gamba; PINTO, Rayane de Oliveira; RICHIERI-COSTA, Antonio; TAVEIRA, Luís Antônio de Assis. Craniofacial morphology in patients with opitz G/BBB syndrome. Cleft Palate-Craniofacial Journal, Lewiston, v. no 2019, n. 10, p. 1366-1372, 2019. Disponível em: < https://doi.org/10.1177/1055665619857001 > DOI: 10.1177/1055665619857001.
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.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.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
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
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ABNT
NAKATA, Nancy Mizue Kokitsu; JEHEE, F; SANDRI, R; et al. Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3. Anais.. Utrecht: [s.n.], 2019.
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.
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. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;
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. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;
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
Source: Abstract Book. Conference titles: European Cleft Palate Craniofacial Association Congress. Unidades: FOB, HRAC, HRACF
Subjects: SÍNDROME DE PIERRE ROBIN, PESSOAS COM DEFICIÊNCIA INTELECTUAL, GÊMEOS, ANOMALIA FACIAL
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ABNT
SANDRI, Rosana Maria Cândido de Souza; RAFACHO, Marina Bigeli; MAXIMINO, Luciana Paula; RICHIERI-COSTA, Antonio; ZECHI-CEIDE, Roseli Maria. Robin sequence, atypical face and intellectual disability in Brazilian siblings. Anais.. Utrecht: [s.n.], 2019.
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.
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. Abstract Book. 2019 ;
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. Abstract Book. 2019 ;
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
Source: Utrecht: European Cleft Palate Craniofacial Association, 2019. Conference titles: European Cleft Palate Craniofacial Association Congress. Unidades: HRAC, FOB
Subjects: TERCEIRA DIMENSÃO, FISSURA LÁBIOPALATINA, PALATO MOLE, PALATO DURO, MORFOLOGIA (ANATOMIA)
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ABNT
MOURA, Priscila Padilha; ZECHI-CEIDE, Roseli Maria; PEIXOTO, Adriano Porto; et al. Three-dimensional analysis of rare facial cleft and association with hard tissue and soft tissue. Anais.. Utrecht: [s.n.], 2019.
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.
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. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;
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. Utrecht: European Cleft Palate Craniofacial Association, 2019. 2019 ;
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
Source: Human Mutation. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MALFORMAÇÕES, MUTAÇÃO GENÉTICA
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ABNT
ROESSLER, Erich; HU, Ping; MARINO, Juliana; 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, Hoboken, v. 39, n. 10, p. 1416-1427, 2018. Disponível em: < https://doi.org/10.1002/humu.23590 > DOI: 10.1002/humu.23590.
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.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.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
Source: The Journal of Craniofacial Surgery. Unidades: HRAC, HRACF
Subjects: ANORMALIDADES CRANIOFACIAIS, MICROGNATISMO, DISOSTOSE CRÂNIOFACIAL, ANORMALIDADES MÚLTIPLAS
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ABNT
PINTO, Rayane de Oliveira; PEIXOTO, Adriano Porto; PINTO, Ary dos Santos; et al. Cephalometric findings in nine individuals with Richieri-Costa-Pereira syndrome. The Journal of Craniofacial Surgery, Hagerstown, v. 29, n. 6, p. 1596-1600, 2018. Disponível em: < http://dx.doi.org/10.1097/SCS.0000000000004588 > DOI: 10.1097/SCS.0000000000004588.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1097/SCS.0000000000004588
Tese
Fenótipo de holoprosencefalia minor: investigação por imagem do sistema nervoso central (2018)
Crês, Maria Cristina; Richieri-Costa, Antonio (Orientador); Nogueira, Célia Regina (Co-orientador)
Unidade: HRACF
Subjects: GLÂNDULA PITUITÁRIA, NEUROIMAGEM, FENÓTIPOS, HOLOPROSENCEFALIA, PROSENCÉFALO
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ABNT
CRÊS, Maria Cristina; RICHIERI-COSTA, Antonio; NOGUEIRA, Célia Regina. Fenótipo de holoprosencefalia minor: investigação por imagem do sistema nervoso central. 2018.Universidade de São Paulo, Bauru, 2018.
APA
Crês, M. C., Richieri-Costa, A., & Nogueira, C. R. (2018). Fenótipo de holoprosencefalia minor: investigação por imagem do sistema nervoso central. Universidade de São Paulo, Bauru.
NLM
Crês MC, Richieri-Costa A, Nogueira CR. Fenótipo de holoprosencefalia minor: investigação por imagem do sistema nervoso central. 2018 ;
Vancouver
Crês MC, Richieri-Costa A, Nogueira CR. Fenótipo de holoprosencefalia minor: investigação por imagem do sistema nervoso central. 2018 ;
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
Source: European Journal of Human Genetics. Unidade: HRAC
Subjects: MUTAÇÃO GENÉTICA, ANOMALIA DENTÁRIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
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ABNT
KIEVIT, Anneke; TESSADORI, Federico; DOUBEN, Hannie; et al. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European Journal of Human Genetics, London, v. 26, n. 2, p. 210-219, 2018. Disponível em: < https://doi.org/10.1038/s41431-017-0010-5 > DOI: 10.1038/s41431-017-0010-5.
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.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.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
Source: Human Molecular Genetics. Unidades: HRAC, IB
Subjects: 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; KOBAYASHI, Gerson S; MUSSO, Camila M; et al. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. Human Molecular Genetics, Oxford, v. 26, n. 12, p. 2177-2191, 2017. Disponível em: < http://dx.doi.org/10.1093/hmg/ddx078 > DOI: 10.1093/hmg/ddx078.
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.Available from: http://dx.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.Available from: http://dx.doi.org/10.1093/hmg/ddx078
Tese
Caracterização do perfil psicológico de indivíduos com síndrome Opitz GBBB (2017)
Rafacho, Marina Bigeli; Ceide, Roseli Maria Zechi (Orientador); Richieri-Costa, Antonio; Miotto, Eliane Correa (Co-orientador)
Unidade: HRACF
Subjects: AVALIAÇÃO NEUROPSICOLÓGICA, ANOMALIA CRANIOFACIAL, FISSURA LÁBIOPALATINA, COGNIÇÃO, MEMÓRIA, ATENÇÃO SELETIVA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RAFACHO, Marina Bigeli; CEIDE, Roseli Maria Zechi; RICHIERI-COSTA, Antonio; MIOTTO, Eliane Correa. Caracterização do perfil psicológico de indivíduos com síndrome Opitz GBBB. 2017.Universidade de São Paulo, Bauru, 2017.
APA
Rafacho, M. B., Ceide, R. M. Z., Richieri-Costa, A., & Miotto, E. C. (2017). Caracterização do perfil psicológico de indivíduos com síndrome Opitz GBBB. Universidade de São Paulo, Bauru.
NLM
Rafacho MB, Ceide RMZ, Richieri-Costa A, Miotto EC. Caracterização do perfil psicológico de indivíduos com síndrome Opitz GBBB. 2017 ;
Vancouver
Rafacho MB, Ceide RMZ, Richieri-Costa A, Miotto EC. Caracterização do perfil psicológico de indivíduos com síndrome Opitz GBBB. 2017 ;
Trabalho de evento
Atypical phenotype caused by complex chromosome rearrangement in 5p15 (2017)
Sandri, Rosana Maria Cândido de Souza; Ceide, Roseli Maria Zechi; Richieri-Costa, Antonio
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC
Subjects: GENÉTICA MÉDICA, POLIMORFISMO, FISSURA LÁBIOPALATINA, PERIODONTITE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANDRI, Rosana Maria Cândido de Souza; CEIDE, Roseli Maria Zechi; RICHIERI-COSTA, Antonio. Atypical phenotype caused by complex chromosome rearrangement in 5p15. Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017.
APA
Sandri, R. M. C. de S., Ceide, R. M. Z., & Richieri-Costa, A. (2017). Atypical phenotype caused by complex chromosome rearrangement in 5p15. In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo.
NLM
Sandri RMC de S, Ceide RMZ, Richieri-Costa A. Atypical phenotype caused by complex chromosome rearrangement in 5p15. Anais. 2017 ;
Vancouver
Sandri RMC de S, Ceide RMZ, Richieri-Costa A. Atypical phenotype caused by complex chromosome rearrangement in 5p15. Anais. 2017 ;
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
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, HRACF
Subjects: HOLOPROSENCEFALIA, FISSURA LÁBIOPALATINA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CRÊS, Maria Cristina; RICHIERI-COSTA, Antonio; MONTEIRO, Rejane Alves de Carvalho; et al. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017.
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.
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? Anais. 2017 ;
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? Anais. 2017 ;
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
Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidade: HRAC
Subjects: 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; CEIDE, Roseli Maria Zechi; NAKATA, Nancy Mizue Kokitsu; et al. Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation. Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017.
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.
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. Anais. 2017 ;
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. Anais. 2017 ;
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
Source: Anais. Conference titles: Congresso Brasileiro de Otorrinolaringologia e Cirurgia Cérvico Facial. Unidade: HRAC
Subjects: 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; BAPTISTA, Marco Antônio Ferraz de Barros; MARTINS, Danilo Augusto Nery dos Passos; et al. Síndrome da fibromatose hialina: uma causa rara de disfagia e atraso de desenvolvimento. Anais.. Florianópolis: [s.n.], 2017.
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.
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. Anais. 2017 ;
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. Anais. 2017 ;
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
Source: Journal of Pediatric Genetics. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio; PITTOLI, Siulan Vendramini Paulovich; NAKATA, Nancy Mizue Kokitsu; et al. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, Stuttgart, v. 6, n. 2, p. 103-106, 2017. Disponível em: < http://dx.doi.org/ 10.1055/s-0036-1588028 > DOI: 10.1055/s-0036-1588028.
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.Available from: http://dx.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.Available from: http://dx.doi.org/ 10.1055/s-0036-1588028
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
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANÁLISE FACIAL, FENÓTIPOS, ANÁLISE FACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KRUSZKA, Paul; ADDISSIE, Yonit A.; MCGINN, Daniel E.; et al. 22q11.2 deletion syndrome in diverse populations. American Journal of Medical Genetics. Part A, Hoboken, v. 173, n. 4, p. 879-888, 2017. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.38199 > DOI: 10.1002/ajmg.a.38199.
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.Available from: http://dx.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.Available from: http://dx.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
Source: 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; PORRAS, Antonio R.; SOBERING, Andrew K.; et al. Down Syndrome in diverse populations. American Journal of Medical Genetics. Part A, Hoboken, v. 173, n. Ja/2017, p. 42-53, 2017. Disponível em: < https://doi.org/10.1002/ajmg.a.38043 > DOI: 10.1002/ajmg.a.38043.
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.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.Available from: https://doi.org/10.1002/ajmg.a.38043

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