ReP USP - Resultado da busca

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: 08 jun. 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 jun. 08 ] 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 jun. 08 ] Available from: https://doi.org/10.1002/ajmg.a.32717
Artigo de periodico
Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? (2009)
Guion-Almeida, Maria Leine; Vendramini-Pittoli, Siulan; Passos-Bueno, Maria Rita ; Zechi-Ceide, Roseli Maria
Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB
Assunto: ANOMALIA CRANIOFACIAL
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ABNT
GUION-ALMEIDA, Maria Leine et al. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?. American Journal of Medical Genetics. Part A, v. 149A, p. 2762-2764, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32816. Acesso em: 08 jun. 2024.
APA
Guion-Almeida, M. L., Vendramini-Pittoli, S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2009). Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? American Journal of Medical Genetics. Part A, 149A, 2762-2764. doi:10.1002/ajmg.a.32816
NLM
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 jun. 08 ] Available from: https://doi.org/10.1002/ajmg.a.32816
Vancouver
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 jun. 08 ] Available from: https://doi.org/10.1002/ajmg.a.32816
Artigo de periodico
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity (2008)
Masotti, Cibele; Oliveira, Karina G.; Poerner, Fabiana; Splendore, Alessandra; Souza, Josiane; Freitas, Renato da Silva; Zechi-Ceide, Roseli Maria; Guion-Almeida, Maria Leine; Passos-Bueno, Maria Rita
Source: European Journal of Human Genetics. Unidades: HRAC, IB
Subjects: GENÉTICA, MAPEAMENTO CROMOSSÔMICO, DISOSTOSE MANDIBULOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MASOTTI, Cibele et al. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. European Journal of Human Genetics, v. 16, n. 2, p. 145-152, 2008Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5201955. Acesso em: 08 jun. 2024.
APA
Masotti, C., Oliveira, K. G., Poerner, F., Splendore, A., Souza, J., Freitas, R. da S., et al. (2008). Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. European Journal of Human Genetics, 16( 2), 145-152. doi:10.1038/sj.ejhg.5201955
NLM
Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas R da S, Zechi-Ceide RM, Guion-Almeida ML, Passos-Bueno MR. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity [Internet]. European Journal of Human Genetics. 2008 ; 16( 2): 145-152.[citado 2024 jun. 08 ] Available from: https://doi.org/10.1038/sj.ejhg.5201955
Vancouver
Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas R da S, Zechi-Ceide RM, Guion-Almeida ML, Passos-Bueno MR. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity [Internet]. European Journal of Human Genetics. 2008 ; 16( 2): 145-152.[citado 2024 jun. 08 ] Available from: https://doi.org/10.1038/sj.ejhg.5201955
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 08 jun. 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 jun. 08 ] 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 jun. 08 ] 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: 08 jun. 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 jun. 08 ] 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 jun. 08 ] 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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 08 jun. 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 jun. 08 ] 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 jun. 08 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
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
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 08 jun. 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 jun. 08 ] 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 jun. 08 ] 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: 08 jun. 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 jun. 08 ] 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 jun. 08 ] Available from: https://doi.org/10.1002/ajmg.a.31518

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