Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? (2010)
- Authors:
- USP affiliated authors: KRIEGER, JOSE EDUARDO - FM ; BERTOLA, DÉBORA ROMEO - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidades: FM; IB
- DOI: 10.1590/s0004-27302010000800009
- Subjects: MUTAÇÃO GENÉTICA; FENÓTIPOS (ANÁLISE); ENDOCRINOPATIAS (GENÉTICA); COMORBIDADE; SEQUÊNCIA DO DNA
- Language: Inglês
- Imprenta:
- Source:
- Título: Arquivos Brasileiros de Endocrinologia e Metabologia
- ISSN: 0004-2730
- Volume/Número/Paginação/Ano: v. 54, n. 8, p. 717-722, 2010
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
BRASIL, Amanda Salem et al. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 8, p. 717-722, 2010Tradução . . Disponível em: https://doi.org/10.1590/s0004-27302010000800009. Acesso em: 11 fev. 2026. -
APA
Brasil, A. S., Malaquias, A. C., Wanderley, L. T., Kim, C. A., Krieger, J. E., Jorge, A. A. L., et al. (2010). Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? Arquivos Brasileiros de Endocrinologia e Metabologia, 54( 8), 717-722. doi:10.1590/s0004-27302010000800009 -
NLM
Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AAL, Pereira AC, Bertola DR. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? [Internet]. Arquivos Brasileiros de Endocrinologia e Metabologia. 2010 ; 54( 8): 717-722.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1590/s0004-27302010000800009 -
Vancouver
Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AAL, Pereira AC, Bertola DR. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? [Internet]. Arquivos Brasileiros de Endocrinologia e Metabologia. 2010 ; 54( 8): 717-722.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1590/s0004-27302010000800009 - KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis
- Tegumentary manifestations of Noonan and Noonan-related syndromes
- Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene—the clinical and radiological follow-up [Carta]
- Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
- Growth Standards of Patients With Noonan and Noonan-Like Syndromes With Mutations in the RAS/MAPK Pathway
- Autoimmune disease and multiple autoantibodies is 42 patients with RASopathies
- Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
- The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype
- Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan
- Contribuição para o estudo clínico e genético da síndrome de Noonan
Informações sobre o DOI: 10.1590/s0004-27302010000800009 (Fonte: oaDOI API)
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