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Artigo de periodico
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients (2010)
Ribeiro, Lucilene Arilho; Quiezi, Rodrigo Gonçalves; Nascimento, Adriana; Bertolacini, Claudia Danielli Pereira; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics, Part A. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, RESSONÂNCIA MAGNÉTICA, SEQUENCIAMENTO GENÉTICO, EDUCAÇÃO INFANTIL
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ABNT
RIBEIRO, Lucilene Arilho et al. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients. American Journal of Medical Genetics, Part A, v. 152A, n. 7, p. 1688-1694, 2010Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.33466. Acesso em: 07 set. 2024.
APA
Ribeiro, L. A., Quiezi, R. G., Nascimento, A., Bertolacini, C. D. P., & Richieri-Costa, A. (2010). Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients. American Journal of Medical Genetics, Part A, 152A( 7), 1688-1694. doi:10.1002/ajmg.a.33466
NLM
Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CDP, Richieri-Costa A. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1688-1694.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.33466
Vancouver
Ribeiro LA, Quiezi RG, Nascimento A, Bertolacini CDP, Richieri-Costa A. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four brazilian patients [Internet]. American Journal of Medical Genetics, Part A. 2010 ; 152A( 7): 1688-1694.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.33466
Artigo de periodico
Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers (2010)
Lamônica, Dionísia Aparecida Cusin; Maximino, Luciana Paula; Abramides, Dagma Venturini Marques; Souza, Deise H.; Richieri-Costa, Antonio
Source: Clinical Dysmorphology. Unidades: FOB, HRAC
Subjects: RETARDO MENTAL (PATOLOGIA), TRANSTORNOS DA LINGUAGEM INFANTIL, DOENÇAS HEREDITÁRIAS, DOENÇAS CEREBRAIS
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ABNT
LAMÔNICA, Dionísia Aparecida Cusin et al. Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. Clinical Dysmorphology, v. 19, n. 2, p. 76-78, 2010Tradução . . Disponível em: https://doi.org/10.1097/mcd.0b013e32833034fc. Acesso em: 07 set. 2024.
APA
Lamônica, D. A. C., Maximino, L. P., Abramides, D. V. M., Souza, D. H., & Richieri-Costa, A. (2010). Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers. Clinical Dysmorphology, 19( 2), 76-78. doi:10.1097/mcd.0b013e32833034fc
NLM
Lamônica DAC, Maximino LP, Abramides DVM, Souza DH, Richieri-Costa A. Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers [Internet]. Clinical Dysmorphology. 2010 ; 19( 2): 76-78.[citado 2024 set. 07 ] Available from: https://doi.org/10.1097/mcd.0b013e32833034fc
Vancouver
Lamônica DAC, Maximino LP, Abramides DVM, Souza DH, Richieri-Costa A. Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers [Internet]. Clinical Dysmorphology. 2010 ; 19( 2): 76-78.[citado 2024 set. 07 ] Available from: https://doi.org/10.1097/mcd.0b013e32833034fc
Artigo de periodico
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients (2009)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL, AGENESIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, v. 149A, n. 5, p. 1006-1011, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32717. Acesso em: 07 set. 2024.
APA
Guion-Almeida, M. L., & Richieri-Costa, A. (2009). Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, 149A( 5), 1006-1011. doi:10.1002/ajmg.a.32717
NLM
Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.32717
Vancouver
Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.32717
Artigo de periodico
Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome (2008)
Dalben, Gisele da Silva; Richieri-Costa, Antonio; Taveira, Lúis Antonio de Assis
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. Unidades: HRAC, FOB
Subjects: DENTE SUPRANUMERÁRIO, DENTE (ANORMALIDADES)
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
DALBEN, Gisele da Silva e RICHIERI-COSTA, Antonio e TAVEIRA, Lúis Antonio de Assis. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, v. 106, p. e46-e51, 2008Tradução . . Disponível em: https://doi.org/10.1016/j.tripleo.2008.04.019. Acesso em: 07 set. 2024.
APA
Dalben, G. da S., Richieri-Costa, A., & Taveira, L. A. de A. (2008). Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 106, e46-e51. doi:10.1016/j.tripleo.2008.04.019
NLM
Dalben G da S, Richieri-Costa A, Taveira LA de A. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome [Internet]. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2008 ; 106 e46-e51.[citado 2024 set. 07 ] Available from: https://doi.org/10.1016/j.tripleo.2008.04.019
Vancouver
Dalben G da S, Richieri-Costa A, Taveira LA de A. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome [Internet]. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2008 ; 106 e46-e51.[citado 2024 set. 07 ] Available from: https://doi.org/10.1016/j.tripleo.2008.04.019
Artigo de periodico
Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases (2007)
Guion-Almeida, Maria Leine; Ceide, Roseli Maria Zechi; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, HIPERTELORISMO
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ABNT
GUION-ALMEIDA, Maria Leine e CEIDE, Roseli Maria Zechi e RICHIERI-COSTA, Antonio. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3252-3266, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32090. Acesso em: 07 set. 2024.
APA
Guion-Almeida, M. L., Ceide, R. M. Z., & Richieri-Costa, A. (2007). Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, 143A( 24), 3252-3266. doi:10.1002/ajmg.a.32090
NLM
Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.32090
Vancouver
Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.32090
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: 07 set. 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 set. 07 ] 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 set. 07 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770
Artigo de periodico
Pai syndrome: report of seven south american patients (2007)
Guion-Almeida, Maria Leine; Mellado, Cecília; Beltrán, Constanza; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, HIPERTELORISMO, LÁBIO FISSURADO
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ABNT
GUION-ALMEIDA, Maria Leine et al. Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3273-3279, 2007Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0. Acesso em: 07 set. 2024.
APA
Guion-Almeida, M. L., Mellado, C., Beltrán, C., & Richieri-Costa, A. (2007). Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, 143A( 24), 3273-3279. Recuperado de http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
NLM
Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 set. 07 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
Vancouver
Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 set. 07 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
Artigo de periodico
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 (2007)
Sandrin-Garcia, Paula; Abramides, Dagma Venturini Marques; Martelli, Lúcia Regina; Ramos, Ester Silveira; Richieri-Costa, Antonio; Passos, Geraldo Aleixo Silva
Source: Molecular and Cellular Biochemistry. Unidades: FOB, FMRP, HRAC, FORP
Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, FENÓTIPOS
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ABNT
SANDRIN-GARCIA, Paula et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Molecular and Cellular Biochemistry, v. 303, n. 1/2, p. 9-17, 2007Tradução . . Disponível em: https://doi.org/10.1007/s11010-007-9450-5. Acesso em: 07 set. 2024.
APA
Sandrin-Garcia, P., Abramides, D. V. M., Martelli, L. R., Ramos, E. S., Richieri-Costa, A., & Passos, G. A. S. (2007). Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Molecular and Cellular Biochemistry, 303( 1/2), 9-17. doi:10.1007/s11010-007-9450-5
NLM
Sandrin-Garcia P, Abramides DVM, Martelli LR, Ramos ES, Richieri-Costa A, Passos GAS. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 [Internet]. Molecular and Cellular Biochemistry. 2007 ; 303( 1/2): 9-17.[citado 2024 set. 07 ] Available from: https://doi.org/10.1007/s11010-007-9450-5
Vancouver
Sandrin-Garcia P, Abramides DVM, Martelli LR, Ramos ES, Richieri-Costa A, Passos GAS. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 [Internet]. Molecular and Cellular Biochemistry. 2007 ; 303( 1/2): 9-17.[citado 2024 set. 07 ] Available from: https://doi.org/10.1007/s11010-007-9450-5
Artigo de periodico
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union (2007)
Ceide, Roseli Maria Zechi; Guion-Almeida, Maria Leine; Zanchetta, Sthella; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL
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ABNT
CEIDE, Roseli Maria Zechi et al. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3295-3301, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32019. Acesso em: 07 set. 2024.
APA
Ceide, R. M. Z., Guion-Almeida, M. L., Zanchetta, S., & Richieri-Costa, A. (2007). Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, 143A( 24), 3295-3301. doi:10.1002/ajmg.a.32019
NLM
Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.32019
Vancouver
Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.32019
Artigo de periodico
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? (2006)
Guion-Almeida, Maria Leine; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics. Part A. Unidade: HRAC
Subjects: ANORMALIDADES MÚLTIPLAS, LÁBIO FISSURADO, ANORMALIDADES DO SISTEMA NERVOSO, ANORMALIDADES CRANIOFACIAIS, GENÉTICA APLICADA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?. American Journal of Medical Genetics. Part A, v. No 2006, n. 22, p. 2478-2481, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31518. Acesso em: 07 set. 2024.
APA
Guion-Almeida, M. L., & Richieri-Costa, A. (2006). Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? American Journal of Medical Genetics. Part A, No 2006( 22), 2478-2481. doi:10.1002/ajmg.a.31518
NLM
Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.31518
Vancouver
Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.31518
Artigo de periodico
SIX3 mutations with holoprosencephaly (2006)
Ribeiro, Lucilene Arilho; El-Jaick, Kenia B; Muenke, Maximilian; Richieri-Costa, Antonio
Source: American Journal of Medical Genetics Part A. Unidade: HRAC
Subjects: HOLOPROSENCEFALIA, MUTAÇÃO GENÉTICA, FISSURA LÁBIOPALATINA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RIBEIRO, Lucilene Arilho et al. SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2577-2583, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31377. Acesso em: 07 set. 2024.
APA
Ribeiro, L. A., El-Jaick, K. B., Muenke, M., & Richieri-Costa, A. (2006). SIX3 mutations with holoprosencephaly. American Journal of Medical Genetics Part A, 140A( 23), 2577-2583. doi:10.1002/ajmg.a.31377
NLM
Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.31377
Vancouver
Ribeiro LA, El-Jaick KB, Muenke M, Richieri-Costa A. SIX3 mutations with holoprosencephaly [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2577-2583.[citado 2024 set. 07 ] Available from: https://doi.org/10.1002/ajmg.a.31377

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