Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries (2011)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidade: IB
- DOI: 10.1016/j.ejmg.2011.03.007
- Subjects: ANORMALIDADES CROMOSSÔMICAS; RETARDO MENTAL; POLIMORFISMO
- Language: Inglês
- Imprenta:
- Source:
- Título: European Journal of Medical Genetics
- ISSN: 1769-7212
- Volume/Número/Paginação/Ano: v. 54, n. 4, p. e425-e432, July/Aug. 2011
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
JEHEE, Fernanda Sarquis et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European Journal of Medical Genetics, v. 54, n. 4, p. e425-e432, 2011Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2011.03.007. Acesso em: 01 abr. 2026. -
APA
Jehee, F. S., Takamori, J. T., Medeiros, P. F. V., Pordeus, A. C. B., Latini, F. R. M., Bertola, D. R., et al. (2011). Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. European Journal of Medical Genetics, 54( 4), e425-e432. doi:10.1016/j.ejmg.2011.03.007 -
NLM
Jehee FS, Takamori JT, Medeiros PFV, Pordeus ACB, Latini FRM, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries [Internet]. European Journal of Medical Genetics. 2011 ; 54( 4): e425-e432.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1016/j.ejmg.2011.03.007 -
Vancouver
Jehee FS, Takamori JT, Medeiros PFV, Pordeus ACB, Latini FRM, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries [Internet]. European Journal of Medical Genetics. 2011 ; 54( 4): e425-e432.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1016/j.ejmg.2011.03.007 - A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder
- Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
- Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1
- Challenges in the orthodontic treatment of a patient with pycnodysostosis
- Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities
- A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
- Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
- Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
- Genetics and genomics in Brazil: a promising future
- Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]
Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).
Por se tratar de integração com serviço externo, podem existir diferentes versões do trabalho (como preprints ou postprints), que podem diferir da versão publicada.
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
