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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
Source: European Journal of Human Genetics. Conference titles: European Society of Human Genetics. Unidades: HRAC, FOB, HRACF
Subjects: 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: 12 nov. 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 nov. 12 ] 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 nov. 12 ] Available from: https://repositorio.usp.br/directbitstream/c7d85a5d-6ff4-412a-a203-f85d7c5b68b7/3089184.pdf
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 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: 12 nov. 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 nov. 12 ] 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 nov. 12 ] Available from: https://doi.org/10.1038/s41431-017-0010-5
Artigo de periodico
Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature (2007)
Vendramini, Siulan; Richieri-Costa, Antonio; Guion-Almeida, Maria Leine
Source: European Journal of Human Genetics. Unidade: HRAC
Subjects: SÍNDROME DE GOLDENHAR, PERDA AUDITIVA NEUROSSENSORIAL, OUVIDO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VENDRAMINI, Siulan e RICHIERI-COSTA, Antonio e GUION-ALMEIDA, Maria Leine. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature. European Journal of Human Genetics, v. 15, n. 4, p. 411-421, 2007Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5201770. Acesso em: 12 nov. 2024.
APA
Vendramini, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2007). Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature. European Journal of Human Genetics, 15( 4), 411-421. doi:10.1038/sj.ejhg.5201770
NLM
Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature [Internet]. European Journal of Human Genetics. 2007 ; 15( 4): 411-421.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770
Vancouver
Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature [Internet]. European Journal of Human Genetics. 2007 ; 15( 4): 411-421.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770

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