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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 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: 06 set. 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 set. 06 ] 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 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.61305
Artigo de periodico-carta/editorial
Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia (2005)
Vitto, Luciana Paula Maximino de; Abramides, Dagma Venturini Marques; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: FOB
Subjects: GENÉTICA MÉDICA, RETARDO MENTAL, CONTROLE MOTOR
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ABNT
VITTO, Luciana Paula Maximino de e ABRAMIDES, Dagma Venturini Marques e RICHIERI-COSTA, Antonio. Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia. American Journal of Medical Genetics. New York: Faculdade de Odontologia de Bauru, Universidade de São Paulo. Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART. Acesso em: 06 set. 2024. , 2005
APA
Vitto, L. P. M. de, Abramides, D. V. M., & Richieri-Costa, A. (2005). Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia. American Journal of Medical Genetics. New York: Faculdade de Odontologia de Bauru, Universidade de São Paulo. Recuperado de http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
NLM
Vitto LPM de, Abramides DVM, Richieri-Costa A. Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia [Internet]. American Journal of Medical Genetics. 2005 ; 136A( 2): 219-220.[citado 2024 set. 06 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
Vancouver
Vitto LPM de, Abramides DVM, Richieri-Costa A. Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia [Internet]. American Journal of Medical Genetics. 2005 ; 136A( 2): 219-220.[citado 2024 set. 06 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/110522538/PDFSTART
Artigo de periodico
Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? (2004)
Guion-Almeida, Maria Leine; Paula, Ligiane Alves Machado; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: ANORMALIDADES MÚLTIPLAS
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ABNT
GUION-ALMEIDA, Maria Leine e PAULA, Ligiane Alves Machado e RICHIERI-COSTA, Antonio. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?. American Journal of Medical Genetics, v. 129A, n. 2, p. 156-161, 2004Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.30153. Acesso em: 06 set. 2024.
APA
Guion-Almeida, M. L., Paula, L. A. M., & Richieri-Costa, A. (2004). Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? American Journal of Medical Genetics, 129A( 2), 156-161. doi:10.1002/ajmg.a.30153
NLM
Guion-Almeida ML, Paula LAM, Richieri-Costa A. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? [Internet]. American Journal of Medical Genetics. 2004 ; 129A( 2): 156-161.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.30153
Vancouver
Guion-Almeida ML, Paula LAM, Richieri-Costa A. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome? [Internet]. American Journal of Medical Genetics. 2004 ; 129A( 2): 156-161.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.30153
Artigo de periodico
Acrofrontofacionasal dysostosis: report of the third Brazilian family (2003)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: DISOSTOSE CRÂNIOFACIAL
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ABNT
GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Acrofrontofacionasal dysostosis: report of the third Brazilian family. American Journal of Medical Genetics, v. 119A, n. 2, p. 238-241, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10444. Acesso em: 06 set. 2024.
APA
Guion-Almeida, M. L., & Richieri-Costa, A. (2003). Acrofrontofacionasal dysostosis: report of the third Brazilian family. American Journal of Medical Genetics, 119A( 2), 238-241. doi:10.1002/ajmg.a.10444
NLM
Guion-Almeida ML, Richieri-Costa A. Acrofrontofacionasal dysostosis: report of the third Brazilian family [Internet]. American Journal of Medical Genetics. 2003 ; 119A( 2): 238-241.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.10444
Vancouver
Guion-Almeida ML, Richieri-Costa A. Acrofrontofacionasal dysostosis: report of the third Brazilian family [Internet]. American Journal of Medical Genetics. 2003 ; 119A( 2): 238-241.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.10444
Artigo de periodico
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome (2003)
Lima, Renata Lúcia Leite Ferreira de; Moretti-Ferreira, Danilo; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: SÍNDROME DE PIERRE ROBIN, ANORMALIDADES CROMOSSÔMICAS
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ABNT
LIMA, Renata Lúcia Leite Ferreira de e MORETTI-FERREIRA, Danilo e RICHIERI-COSTA, Antonio. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. American Journal of Medical Genetics, v. 122A, n. 1, p. 56-58, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.20270. Acesso em: 06 set. 2024.
APA
Lima, R. L. L. F. de, Moretti-Ferreira, D., & Richieri-Costa, A. (2003). Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. American Journal of Medical Genetics, 122A( 1), 56-58. doi:10.1002/ajmg.a.20270
NLM
Lima RLLF de, Moretti-Ferreira D, Richieri-Costa A. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome [Internet]. American Journal of Medical Genetics. 2003 ; 122A( 1): 56-58.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.20270
Vancouver
Lima RLLF de, Moretti-Ferreira D, Richieri-Costa A. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome [Internet]. American Journal of Medical Genetics. 2003 ; 122A( 1): 56-58.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.20270
Artigo de periodico
Waardenburg syndrome: clinical differentiation between types I and II (2003)
Pardono, Eliete; Bever, Yolande van; Ende, Jenneke van den; Havrenne, Poti Chimetta; Iughetti, Paula; Maestrelli, Sylvia Regina Pedrosa; Costa Filho, Orozimbo Alves; Richieri-Costa, Antonio; Frota-Pessoa, Oswaldo; Otto, Paulo A
Source: American Journal of Medical Genetics. Unidades: FOB, HRAC, IB
Assunto: ANORMALIDADES CRANIOFACIAIS
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ABNT
PARDONO, Eliete et al. Waardenburg syndrome: clinical differentiation between types I and II. American Journal of Medical Genetics, v. 117A, n. 3, p. 223-235, 2003Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.10193. Acesso em: 06 set. 2024.
APA
Pardono, E., Bever, Y. van, Ende, J. van den, Havrenne, P. C., Iughetti, P., Maestrelli, S. R. P., et al. (2003). Waardenburg syndrome: clinical differentiation between types I and II. American Journal of Medical Genetics, 117A( 3), 223-235. doi:10.1002/ajmg.a.10193
NLM
Pardono E, Bever Y van, Ende J van den, Havrenne PC, Iughetti P, Maestrelli SRP, Costa Filho OA, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 3): 223-235.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.10193
Vancouver
Pardono E, Bever Y van, Ende J van den, Havrenne PC, Iughetti P, Maestrelli SRP, Costa Filho OA, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II [Internet]. American Journal of Medical Genetics. 2003 ; 117A( 3): 223-235.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.a.10193
Artigo de periodico
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family (2000)
Zanchetta, Sthella; Ohara, Kouzaburo; Rodrigues, Patrícia T.; Carvalho, Ester L. L.; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
ZANCHETTA, Sthella et al. "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family. American Journal of Medical Genetics, v. No 2000, n. 1, p. 13-16, 2000Tradução . . Disponível em: https://doi.org/10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t. Acesso em: 06 set. 2024.
APA
Zanchetta, S., Ohara, K., Rodrigues, P. T., Carvalho, E. L. L., & Richieri-Costa, A. (2000). "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family. American Journal of Medical Genetics, No 2000( 1), 13-16. doi:10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t
NLM
Zanchetta S, Ohara K, Rodrigues PT, Carvalho ELL, Richieri-Costa A. "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family [Internet]. American Journal of Medical Genetics. 2000 ; No 2000( 1): 13-16.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t
Vancouver
Zanchetta S, Ohara K, Rodrigues PT, Carvalho ELL, Richieri-Costa A. "New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family [Internet]. American Journal of Medical Genetics. 2000 ; No 2000( 1): 13-16.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/1096-8628(20001106)95:1%3C13::aid-ajmg4%3E3.0.co;2-t
Artigo de periodico
Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients (1999)
Guion-Almeida, Maria Leine; Ceide, Roseli Maria Zechi; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA
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ABNT
GUION-ALMEIDA, Maria Leine e CEIDE, Roseli Maria Zechi e RICHIERI-COSTA, Antonio. Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients. American Journal of Medical Genetics, v. No 1999, n. 1, p. 72-77, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19991105)87:1%3C72::aid-ajmg15%3E3.0.co;2-7. Acesso em: 06 set. 2024.
APA
Guion-Almeida, M. L., Ceide, R. M. Z., & Richieri-Costa, A. (1999). Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients. American Journal of Medical Genetics, No 1999( 1), 72-77. doi:10.1002/(sici)1096-8628(19991105)87:1%3C72::aid-ajmg15%3E3.0.co;2-7
NLM
Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients [Internet]. American Journal of Medical Genetics. 1999 ; No 1999( 1): 72-77.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991105)87:1%3C72::aid-ajmg15%3E3.0.co;2-7
Vancouver
Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients [Internet]. American Journal of Medical Genetics. 1999 ; No 1999( 1): 72-77.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991105)87:1%3C72::aid-ajmg15%3E3.0.co;2-7
Artigo de periodico
New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients (1999)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA
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ABNT
GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients. American Journal of Medical Genetics, v. No 1999, n. 3, p. 237-244, 1999Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19991126)87:3%3C237::aid-ajmg8%3E3.0.co;2-i. Acesso em: 06 set. 2024.
APA
Guion-Almeida, M. L., & Richieri-Costa, A. (1999). New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients. American Journal of Medical Genetics, No 1999( 3), 237-244. doi:10.1002/(sici)1096-8628(19991126)87:3%3C237::aid-ajmg8%3E3.0.co;2-i
NLM
Guion-Almeida ML, Richieri-Costa A. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients [Internet]. American Journal of Medical Genetics. 1999 ; No 1999( 3): 237-244.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991126)87:3%3C237::aid-ajmg8%3E3.0.co;2-i
Vancouver
Guion-Almeida ML, Richieri-Costa A. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients [Internet]. American Journal of Medical Genetics. 1999 ; No 1999( 3): 237-244.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19991126)87:3%3C237::aid-ajmg8%3E3.0.co;2-i
Artigo de periodico
Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses (1998)
Passos-Bueno, Maria Rita ; Sertié, Andréa L; Richieri-Costa, Antonio; Alonso, Luís G; Zatz, Mayana ; Alonso, Nivaldo; Brunoni, Decio; Ribeiro, Sandra F M
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Assunto: GENÉTICA MÉDICA
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ABNT
PASSOS-BUENO, Maria Rita et al. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, v. 78, p. 237-241, 1998Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m. Acesso em: 06 set. 2024.
APA
Passos-Bueno, M. R., Sertié, A. L., Richieri-Costa, A., Alonso, L. G., Zatz, M., Alonso, N., et al. (1998). Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, 78, 237-241. doi:10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SFM. Description of a new mutation and caracterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [Internet]. American Journal of Medical Genetics. 1998 ; 78 237-241.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19980707)78:3%3C237::aid-ajmg5%3E3.0.co;2-m
Artigo de periodico
New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two brazilian patients (1997)
Vitto, Luciana Paula Maximino de; Costa Filho, Orozimbo Alves; Bevilacqua, Maria Cecília; Passerotti, Sergio; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidades: FOB, HRAC
Subjects: TRANSTORNOS DA AUDIÇÃO, SURDO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VITTO, Luciana Paula Maximino de et al. New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two brazilian patients. American Journal of Medical Genetics, v. 70, n. 3, p. 247-249, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970613)70:3%3C247::aid-ajmg6%3E3.0.co;2-t. Acesso em: 06 set. 2024.
APA
Vitto, L. P. M. de, Costa Filho, O. A., Bevilacqua, M. C., Passerotti, S., & Richieri-Costa, A. (1997). New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two brazilian patients. American Journal of Medical Genetics, 70( 3), 247-249. doi:10.1002/(sici)1096-8628(19970613)70:3%3C247::aid-ajmg6%3E3.0.co;2-t
NLM
Vitto LPM de, Costa Filho OA, Bevilacqua MC, Passerotti S, Richieri-Costa A. New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two brazilian patients [Internet]. American Journal of Medical Genetics. 1997 ; 70( 3): 247-249.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970613)70:3%3C247::aid-ajmg6%3E3.0.co;2-t
Vancouver
Vitto LPM de, Costa Filho OA, Bevilacqua MC, Passerotti S, Richieri-Costa A. New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two brazilian patients [Internet]. American Journal of Medical Genetics. 1997 ; 70( 3): 247-249.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970613)70:3%3C247::aid-ajmg6%3E3.0.co;2-t
Artigo de periodico
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? (1997)
Passos-Bueno, Maria Rita ; Sertié, Andréa Laurato; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Unidades: IB, HRAC
Subjects: SÍNDROMES OROFACIODIGITAIS, MUTAÇÃO, POLIMORFISMO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
PASSOS-BUENO, Maria Rita e SERTIÉ, Andréa Laurato e RICHIERI-COSTA, Antonio. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?. American Journal of Medical Genetics, v. 71, n. 2, p. 243-245, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d. Acesso em: 06 set. 2024.
APA
Passos-Bueno, M. R., Sertié, A. L., & Richieri-Costa, A. (1997). Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? American Journal of Medical Genetics, 71( 2), 243-245. doi:10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
NLM
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
Vancouver
Passos-Bueno MR, Sertié AL, Richieri-Costa A. Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 243-245.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C243::aid-ajmg27%3E3.0.co;2-d
Artigo de periodico
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected brazilian patient born to consanguineous parents (1997)
Richieri-Costa, Antonio; Brandão-Almeida, Iara Lêda
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: ANORMALIDADES CRANIOFACIAIS, FISSURA LÁBIOPALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio e BRANDÃO-ALMEIDA, Iara Lêda. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected brazilian patient born to consanguineous parents. American Journal of Medical Genetics, v. 71, n. 2, p. 233-235, 1997Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C233::aid-ajmg23%3E3.0.co;2-e. Acesso em: 06 set. 2024.
APA
Richieri-Costa, A., & Brandão-Almeida, I. L. (1997). Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected brazilian patient born to consanguineous parents. American Journal of Medical Genetics, 71( 2), 233-235. doi:10.1002/(sici)1096-8628(19970808)71:2%3C233::aid-ajmg23%3E3.0.co;2-e
NLM
Richieri-Costa A, Brandão-Almeida IL. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected brazilian patient born to consanguineous parents [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 233-235.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C233::aid-ajmg23%3E3.0.co;2-e
Vancouver
Richieri-Costa A, Brandão-Almeida IL. Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected brazilian patient born to consanguineous parents [Internet]. American Journal of Medical Genetics. 1997 ; 71( 2): 233-235.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19970808)71:2%3C233::aid-ajmg23%3E3.0.co;2-e
Artigo de periodico
Cerebrofaciothoracic syndrome (1996)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio; Saavedra, Dolores; Cohen Junior, M. Michael
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine et al. Cerebrofaciothoracic syndrome. American Journal of Medical Genetics, v. 61, n. Ja 1996, p. 152-153, 1996Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19960111)61:2%3C152::aid-ajmg9%3E3.0.co;2-z. Acesso em: 06 set. 2024.
APA
Guion-Almeida, M. L., Richieri-Costa, A., Saavedra, D., & Cohen Junior, M. M. (1996). Cerebrofaciothoracic syndrome. American Journal of Medical Genetics, 61( Ja 1996), 152-153. doi:10.1002/(sici)1096-8628(19960111)61:2%3C152::aid-ajmg9%3E3.0.co;2-z
NLM
Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen Junior MM. Cerebrofaciothoracic syndrome [Internet]. American Journal of Medical Genetics. 1996 ; 61( Ja 1996): 152-153.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19960111)61:2%3C152::aid-ajmg9%3E3.0.co;2-z
Vancouver
Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen Junior MM. Cerebrofaciothoracic syndrome [Internet]. American Journal of Medical Genetics. 1996 ; 61( Ja 1996): 152-153.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19960111)61:2%3C152::aid-ajmg9%3E3.0.co;2-z
Artigo de periodico
Craniofrontonasal syndrome: study of 41 patients (1996)
Saavedra, Dolores; Richieri-Costa, Antonio; Guion-Almeida, Maria Leine; Cohen Junior, M. Michael
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SAAVEDRA, Dolores et al. Craniofrontonasal syndrome: study of 41 patients. American Journal of Medical Genetics, v. 61, n. Ja 1996, p. 147-151, 1996Tradução . . Disponível em: https://doi.org/10.1002/(sici)1096-8628(19960111)61:2%3C147::aid-ajmg8%3E3.0.co;2-u. Acesso em: 06 set. 2024.
APA
Saavedra, D., Richieri-Costa, A., Guion-Almeida, M. L., & Cohen Junior, M. M. (1996). Craniofrontonasal syndrome: study of 41 patients. American Journal of Medical Genetics, 61( Ja 1996), 147-151. doi:10.1002/(sici)1096-8628(19960111)61:2%3C147::aid-ajmg8%3E3.0.co;2-u
NLM
Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen Junior MM. Craniofrontonasal syndrome: study of 41 patients [Internet]. American Journal of Medical Genetics. 1996 ; 61( Ja 1996): 147-151.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19960111)61:2%3C147::aid-ajmg8%3E3.0.co;2-u
Vancouver
Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen Junior MM. Craniofrontonasal syndrome: study of 41 patients [Internet]. American Journal of Medical Genetics. 1996 ; 61( Ja 1996): 147-151.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/(sici)1096-8628(19960111)61:2%3C147::aid-ajmg8%3E3.0.co;2-u
Artigo de periodico
Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity (1994)
Richieri-Costa, Antonio; Gorlin, Robert J.
Source: American Journal of Medical Genetics. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio e GORLIN, Robert J. Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity. American Journal of Medical Genetics, v. No 1994, n. 3, p. 222-226, 1994Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320530305. Acesso em: 06 set. 2024.
APA
Richieri-Costa, A., & Gorlin, R. J. (1994). Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity. American Journal of Medical Genetics, No 1994( 3), 222-226. doi:10.1002/ajmg.1320530305
NLM
Richieri-Costa A, Gorlin RJ. Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity [Internet]. American Journal of Medical Genetics. 1994 ; No 1994( 3): 222-226.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320530305
Vancouver
Richieri-Costa A, Gorlin RJ. Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity [Internet]. American Journal of Medical Genetics. 1994 ; No 1994( 3): 222-226.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320530305
Artigo de periodico
Newly recognized autosomal recessive MCA/MR/overgrowth syndrome (1993)
Richieri-Costa, Antonio; Guion-Almeida, Maria Leine; Cohen Junior, M. Michael
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio e GUION-ALMEIDA, Maria Leine e COHEN JUNIOR, M. Michael. Newly recognized autosomal recessive MCA/MR/overgrowth syndrome. American Journal of Medical Genetics, v. 47, n. 2, p. 278-280, 1993Tradução . . Acesso em: 06 set. 2024.
APA
Richieri-Costa, A., Guion-Almeida, M. L., & Cohen Junior, M. M. (1993). Newly recognized autosomal recessive MCA/MR/overgrowth syndrome. American Journal of Medical Genetics, 47( 2), 278-280.
NLM
Richieri-Costa A, Guion-Almeida ML, Cohen Junior MM. Newly recognized autosomal recessive MCA/MR/overgrowth syndrome. American Journal of Medical Genetics. 1993 ; 47( 2): 278-280.[citado 2024 set. 06 ]
Vancouver
Richieri-Costa A, Guion-Almeida ML, Cohen Junior MM. Newly recognized autosomal recessive MCA/MR/overgrowth syndrome. American Journal of Medical Genetics. 1993 ; 47( 2): 278-280.[citado 2024 set. 06 ]
Artigo de periodico
Carpenter syndrome with normal intelligence: Brazilian girl born consanguineous parents (1993)
Richieri-Costa, Antonio; Pirolo Junior, L; Cohen Junior, M. Michael
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio e PIROLO JUNIOR, L e COHEN JUNIOR, M. Michael. Carpenter syndrome with normal intelligence: Brazilian girl born consanguineous parents. American Journal of Medical Genetics, v. 47, n. 2, p. 281-283, 1993Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320470228. Acesso em: 06 set. 2024.
APA
Richieri-Costa, A., Pirolo Junior, L., & Cohen Junior, M. M. (1993). Carpenter syndrome with normal intelligence: Brazilian girl born consanguineous parents. American Journal of Medical Genetics, 47( 2), 281-283. doi:10.1002/ajmg.1320470228
NLM
Richieri-Costa A, Pirolo Junior L, Cohen Junior MM. Carpenter syndrome with normal intelligence: Brazilian girl born consanguineous parents [Internet]. American Journal of Medical Genetics. 1993 ; 47( 2): 281-283.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320470228
Vancouver
Richieri-Costa A, Pirolo Junior L, Cohen Junior MM. Carpenter syndrome with normal intelligence: Brazilian girl born consanguineous parents [Internet]. American Journal of Medical Genetics. 1993 ; 47( 2): 281-283.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320470228
Artigo de periodico
Newly recognized blepharofacioskeletal syndrome (1993)
Richieri-Costa, Antonio; Guion-Almeida, Maria Leine; Rodini, Elaine Sbroggio de Oliveira; Pereira, S C D; Cohen Junior, M. Michael
Source: American Journal of Medical Genetics. Unidade: HRAC
Assunto: GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RICHIERI-COSTA, Antonio et al. Newly recognized blepharofacioskeletal syndrome. American Journal of Medical Genetics, v. 46, n. 6, p. 620-622, 1993Tradução . . Disponível em: https://doi.org/10.1002/ajmg.1320460603. Acesso em: 06 set. 2024.
APA
Richieri-Costa, A., Guion-Almeida, M. L., Rodini, E. S. de O., Pereira, S. C. D., & Cohen Junior, M. M. (1993). Newly recognized blepharofacioskeletal syndrome. American Journal of Medical Genetics, 46( 6), 620-622. doi:10.1002/ajmg.1320460603
NLM
Richieri-Costa A, Guion-Almeida ML, Rodini ES de O, Pereira SCD, Cohen Junior MM. Newly recognized blepharofacioskeletal syndrome [Internet]. American Journal of Medical Genetics. 1993 ; 46( 6): 620-622.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320460603
Vancouver
Richieri-Costa A, Guion-Almeida ML, Rodini ES de O, Pereira SCD, Cohen Junior MM. Newly recognized blepharofacioskeletal syndrome [Internet]. American Journal of Medical Genetics. 1993 ; 46( 6): 620-622.[citado 2024 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320460603
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: 06 set. 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 set. 06 ] 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 set. 06 ] Available from: https://doi.org/10.1002/ajmg.1320470307

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