Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice (2011)
- Authors:
- Vissers, Lisenka E. L. M.
- Cox, Timothy C.
- Maga, A. Murat
- Short, Kieran M.
- Wiradjaja, Fenny
- Janssen, Irene M.
- Jehee, Fernanda Sarquis
- Bertola, Débora Romeo
- Liu, Jia
- Yagnik, Garima
- Sekiguchi, Kiyotoshi
- Kiyozumi, Daiji
- Bokhoven, Hans van
- Marcelis, Carlo
- Cunningham, Michael
- Anderson, Peter J.
- Boyadjiev, Simeon A
- Passos-Bueno, Maria Rita
- Veltman, Joris A
- Smyth, Ian
- Buckley, Michael F.
- Roscioli, Tony
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidade: IB
- DOI: 10.1371/journal.pgen.1002278
- Subjects: MUTAÇÃO GENÉTICA; CRANIOSSINOSTOSE
- Language: Inglês
- Imprenta:
- Publisher place: San Francisco
- Date published: 2011
- Source:
- Título: PLoS Genetics
- ISSN: 1553-7390
- Volume/Número/Paginação/Ano: v. 7, n, 9, p. e1002278, sept. 2011
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
VISSERS, Lisenka E. L. M. et al. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genetics, v. 7, p. e1002278, 2011Tradução . . Disponível em: https://doi.org/10.1371/journal.pgen.1002278. Acesso em: 12 fev. 2026. -
APA
Vissers, L. E. L. M., Cox, T. C., Maga, A. M., Short, K. M., Wiradjaja, F., Janssen, I. M., et al. (2011). Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genetics, 7, e1002278. doi:10.1371/journal.pgen.1002278 -
NLM
Vissers LELM, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee FS, Bertola DR, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, Bokhoven H van, Marcelis C, Cunningham M, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice [Internet]. PLoS Genetics. 2011 ; 7 e1002278.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1371/journal.pgen.1002278 -
Vancouver
Vissers LELM, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee FS, Bertola DR, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, Bokhoven H van, Marcelis C, Cunningham M, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice [Internet]. PLoS Genetics. 2011 ; 7 e1002278.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1371/journal.pgen.1002278 - A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder
- 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
- 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
- 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 o DOI: 10.1371/journal.pgen.1002278 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
