High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation (2008)
- Authors:
- Jehee, Fernanda Sarquis
- Krepischi, Ana Cristina Victorino

- Rocha, K. M.
- Cavalcanti, D. P.
- Kim, C. A. - Universidade de São Paulo (USP)
- Bertola, Débora Romeo
- Alonso, Luís Garcia - Universidade Federal de São Paulo (UNIFESP)
- D'Angelo, C. S.
- Mazzeu, Juliana Forte
- Froyen, Guy
- Lugtenberg, D.
- Vianna-Morgante, Angela M

- Rosenberg, Carla

- Passos-Bueno, Maria Rita

- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidade: IB
- DOI: 10.1136/jmg.2007.057042
- Subjects: CRANIOSSINOSTOSE; ANORMALIDADES CRANIOFACIAIS
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 45, n. 7, p. 447-450, 2008
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
JEHEE, Fernanda Sarquis et al. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of Medical Genetics, v. 45, n. 7, p. 447-450, 2008Tradução . . Disponível em: https://doi.org/10.1136/jmg.2007.057042. Acesso em: 28 dez. 2025. -
APA
Jehee, F. S., Krepischi, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., et al. (2008). High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. Journal of Medical Genetics, 45( 7), 447-450. doi:10.1136/jmg.2007.057042 -
NLM
Jehee FS, Krepischi ACV, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation [Internet]. Journal of Medical Genetics. 2008 ; 45( 7): 447-450.[citado 2025 dez. 28 ] Available from: https://doi.org/10.1136/jmg.2007.057042 -
Vancouver
Jehee FS, Krepischi ACV, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation [Internet]. Journal of Medical Genetics. 2008 ; 45( 7): 447-450.[citado 2025 dez. 28 ] Available from: https://doi.org/10.1136/jmg.2007.057042 - An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
- High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
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Informações sobre o DOI: 10.1136/jmg.2007.057042 (Fonte: oaDOI API)
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