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Artigo de periodico
Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 (2020)
Pittoli, Siulan Vendramini Paulovich ; Souza, Rosana Maria Candido ; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho ; FitzPatrick, David R. ; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: Journal of Pediatric Genetics. Unidades: HRAC, HRACF
Subjects: AGENESIA, FISSURA PALATINA, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 12 nov. 2024.
APA
Pittoli, S. V. P., Souza, R. M. C., Quiezi, R. G., Zechi-Ceide, R. M., Nakata, N. M. K., Jehee, F. S., et al. (2020). Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2. Journal of Pediatric Genetics, 9( 4), 258-262. doi:10.1055/s-0039-3402047
NLM
Pittoli SVP, Souza RMC, Quiezi RG, Zechi-Ceide RM, Nakata NMK, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 [Internet]. Journal of Pediatric Genetics. 2020 ; 9( 4): 258-262.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1055/s-0039-3402047
Vancouver
Pittoli SVP, Souza RMC, Quiezi RG, Zechi-Ceide RM, Nakata NMK, Jehee FS, Ribeiro-Bicudo LA, FitzPatrick DR, Guion-Almeida ML, Richieri-Costa A. Microphthalmia, linear skin defects, callosal agenesis, and cleft palate in a patient with deletion at Xp22.3p22.2 [Internet]. Journal of Pediatric Genetics. 2020 ; 9( 4): 258-262.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1055/s-0039-3402047
Artigo de periodico
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects (2014)
Favaro, Francine Pinheiro; Alvizi, Lucas ; Zechi-Ceide, Roseli Maria; Bertola, Débora Romeo; Félix, Têmis Maria ; Souza, Josiane de; Raskin, Salmo; Twigg, Stephen R. F; Weiner, Andrea M. J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O. M; Richieri-Costa, Antonio; Almeida, Maria Leine Guion de; Passos-Bueno, Maria Rita
Source: American Journal of Human Genetics. Unidades: HRAC, IB, HRACF
Subjects: ANORMALIDADES CRANIOFACIAIS, MUTAÇÃO GENÉTICA, MALFORMAÇÕES, FISSURA PALATINA, MODELOS ANIMAIS, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FAVARO, Francine Pinheiro et al. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, v. 94, n. Ja 2014, p. 120-128, 2014Tradução . . Acesso em: 12 nov. 2024.
APA
Favaro, F. P., Alvizi, L., Zechi-Ceide, R. M., Bertola, D. R., Félix, T. M., Souza, J. de, et al. (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics, 94( Ja 2014), 120-128.
NLM
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 12 ]
Vancouver
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola DR, Félix TM, Souza J de, Raskin S, Twigg SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AOM, Richieri-Costa A, Almeida MLG de, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. American Journal of Human Genetics. 2014 ; 94( Ja 2014): 120-128.[citado 2024 nov. 12 ]
Artigo de periodico
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting (2011)
Saadi, Irfan; Alkuraya, Fowzan S.; Gisselbrecht, Stephen S.; Goessling, Wolfram; Cavallesco, Resy; Turbe-Doan, Annick; Petrin, Aline L; Harris, James; Siddiqui, Ursela; Grix Junior, Arthur W.; Hove, Hanne D.; Leboulch, Philippe; Glover, Thomas W.; Morton, Cynthia C; Richieri-Costa, Antonio ; Murray, Jeffrey C; Erickson, Robert P.; Maas, Richard L.
Source: American Journal of Human Genetics. Unidade: HRAC
Subjects: DEFICIÊNCIA DE PROTEÍNA, ANORMALIDADES CRANIOFACIAIS, FENÓTIPOS, DISOSTOSE CRÂNIOFACIAL, FISSURA PALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SAADI, Irfan et al. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. American Journal of Human Genetics, v. 89, p. 44-55, 2011Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2011.05.023. Acesso em: 12 nov. 2024.
APA
Saadi, I., Alkuraya, F. S., Gisselbrecht, S. S., Goessling, W., Cavallesco, R., Turbe-Doan, A., et al. (2011). Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. American Journal of Human Genetics, 89, 44-55. doi:10.1016/j.ajhg.2011.05.023
NLM
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix Junior AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting [Internet]. American Journal of Human Genetics. 2011 ; 89 44-55.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1016/j.ajhg.2011.05.023
Vancouver
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix Junior AW, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting [Internet]. American Journal of Human Genetics. 2011 ; 89 44-55.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1016/j.ajhg.2011.05.023
Artigo de periodico
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome (2009)
Lima, Renata Lúcia Leite Ferreira de; Hoper, Sarah A.; Ghassibe, Michella; Cooper, Margaret E.; Rorick, Nicholas K.; Kondo, Shinji; Katz, Lori; Marazita, Mary L.; Compton, John; Bale, Sherri; Hehr, Ute; Dixon, Michael J.; Daack-Hirsch, Sandra; Boute, Odile; Bayet, Bénédicte; Revencu, Nicole; Verellen-Dumoulin, Christine; Vikkula, Miikka; Richieri-Costa, Antonio; Moretti Ferreira, Danilo; Murray, Jeffrey C.; Schutte, Brian C.
Source: Genetics in Medicine. Unidade: HRAC
Subjects: ANÁLISE DE SEQUÊNCIA DE DNA, MUTAÇÃO, LÁBIO FISSURADO, FISSURA PALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LIMA, Renata Lúcia Leite Ferreira de et al. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine, v. 11, n. 4, p. 241-247, 2009Tradução . . Disponível em: https://doi.org/10.1097/GIM.0b013e318197a49a. Acesso em: 12 nov. 2024.
APA
Lima, R. L. L. F. de, Hoper, S. A., Ghassibe, M., Cooper, M. E., Rorick, N. K., Kondo, S., et al. (2009). Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine, 11( 4), 241-247. doi:10.1097/GIM.0b013e318197a49a
NLM
Lima RLLF de, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti Ferreira D, Murray JC, Schutte BC. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome [Internet]. Genetics in Medicine. 2009 ; 11( 4): 241-247.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1097/GIM.0b013e318197a49a
Vancouver
Lima RLLF de, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti Ferreira D, Murray JC, Schutte BC. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome [Internet]. Genetics in Medicine. 2009 ; 11( 4): 241-247.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1097/GIM.0b013e318197a49a
Artigo de periodico
TBX22 mutations are a frequent cause of cleft palate (2004)
Marçano, Ana Carolina Braga; Doudney, K.; Braybrook, C.; Squires, R.; Patton, M. A.; Lees, M. M.; Richieri-Costa, Antonio; Lidral, Andrew C.; Murray, Jeffrey C.; Moore, G.E.; Stanier, P.
Source: Journal of Medical Genetics. Unidade: HRAC
Subjects: MUTAÇÃO GENÉTICA, FISSURA PALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MARÇANO, Ana Carolina Braga et al. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics, v. 41, n. Ja 2004, p. 68-74, 2004Tradução . . Acesso em: 12 nov. 2024.
APA
Marçano, A. C. B., Doudney, K., Braybrook, C., Squires, R., Patton, M. A., Lees, M. M., et al. (2004). TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics, 41( Ja 2004), 68-74.
NLM
Marçano ACB, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 68-74.[citado 2024 nov. 12 ]
Vancouver
Marçano ACB, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 mutations are a frequent cause of cleft palate. Journal of Medical Genetics. 2004 ; 41( Ja 2004): 68-74.[citado 2024 nov. 12 ]
Artigo de periodico
Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity (1993)
Nakata, Nancy Mizue Kokitsu; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: ANORMALIDADES CRANIOFACIAIS, FISSURA PALATINA, RETARDO MENTAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NAKATA, Nancy Mizue Kokitsu e GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity. American Journal of Medical Genetics, v. 47, n. 1, p. 330-332, 1993Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320470307. Acesso em: 12 nov. 2024.
APA
Nakata, N. M. K., Guion-Almeida, M. L., & Richieri-Costa, A. (1993). Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity. American Journal of Medical Genetics, 47( 1), 330-332. doi:10.1002/ajmg.1320470307
NLM
Nakata NMK, Guion-Almeida ML, Richieri-Costa A. Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity [Internet]. American Journal of Medical Genetics. 1993 ; 47( 1): 330-332.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.1320470307
Vancouver
Nakata NMK, Guion-Almeida ML, Richieri-Costa A. Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity [Internet]. American Journal of Medical Genetics. 1993 ; 47( 1): 330-332.[citado 2024 nov. 12 ] Available from: https://doi.org/10.1002/ajmg.1320470307
Artigo de periodico
Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy [New syndrome?] (1988)
Richieri-Costa, Antonio; Miranda, Esiquiel
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: FISSURA PALATINA, FENÓTIPOS, MALFORMAÇÕES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio e MIRANDA, Esiquiel. Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy [New syndrome?]. American Journal of Medical Genetics, v. No 1988, n. 3, p. 559-564, 1988Tradução . . Acesso em: 12 nov. 2024.
APA
Richieri-Costa, A., & Miranda, E. (1988). Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy [New syndrome?]. American Journal of Medical Genetics, No 1988( 3), 559-564.
NLM
Richieri-Costa A, Miranda E. Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy [New syndrome?]. American Journal of Medical Genetics. 1988 ; No 1988( 3): 559-564.[citado 2024 nov. 12 ]
Vancouver
Richieri-Costa A, Miranda E. Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy [New syndrome?]. American Journal of Medical Genetics. 1988 ; No 1988( 3): 559-564.[citado 2024 nov. 12 ]

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