Artigo de periodico

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes (2013)

• Authors:
  • Twigg, Stephen R. F.
  • Babbs, Christian
  • Elzen, Marijke E. P. van den
  • Goriely, Anne
  • Taylor, Stephen
  • McGowan, Simon J.
  • Giannoulatou, Eleni
  • Lonie, Lorne
  • Ragoussis, Jiannis
  • Akha, Elham Sadighi
  • Knight, Samantha J. L.
  • Zechi-Ceide, Roseli Maria
  • Hoogeboom, Jeannette A. M.
  • Pober, Barbara R.
  • Toriello, Helga V.
  • Wall, Steven A.
  • Passos-Bueno, Maria Rita
  • Brunner, Han G.
  • Mathijssen, Irene M. J.
  • Wilkie, Andrew O. M.
• USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
• Unidades: HRAC; IB
• DOI: 10.1093/hmg/ddt015
• Subjects: GENÉTICA; ANORMALIDADES MÚLTIPLAS; MUTAÇÃO
• Language: Inglês
• Imprenta:
  • Publisher place: Oxford
  • Date published: 2013
• Source:
  • Título: Human Molecular Genetics
  • ISSN: 0964-6906
  • Volume/Número/Paginação/Ano: v. 22, n. 8, p. 1654-1662, Apr. 2013


Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).

Status:

Artigo aberto em periódico híbrido (Hybrid Open Access)

Versão do Documento:

Versão publicada (Published version)

Acessar versão aberta:

• PDF de acesso aberto

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

• ABNT

  TWIGG, Stephen R. F. et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, v. 22, n. 8, p. 1654-1662, 2013Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddt015. Acesso em: 01 abr. 2026.

• APA

  Twigg, S. R. F., Babbs, C., Elzen, M. E. P. van den, Goriely, A., Taylor, S., McGowan, S. J., et al. (2013). Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics, 22( 8), 1654-1662. doi:10.1093/hmg/ddt015

• NLM

  Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1093/hmg/ddt015

• Vancouver

  Twigg SRF, Babbs C, Elzen MEP van den, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJL, Zechi-Ceide RM, Hoogeboom JAM, Pober BR, Toriello HV, Wall SA, Passos-Bueno MR, Brunner HG, Mathijssen IMJ, Wilkie AOM. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes [Internet]. Human Molecular Genetics. 2013 ; 22( 8): 1654-1662.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1093/hmg/ddt015

Últimas obras dos mesmos autores vinculados com a USP cadastradas na BDPI:

• A review of craniofacial disorders caused by spliceosomal defects
• Mutations in endothelin 1 cause auriculocondylar syndrome and isolated question mark ears
• EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome
• Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
• Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations
• Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
• Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development
• Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy
• Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features
• USP lança teste rápido de Covid-19 pela saliva nesta terça-feira [Depoimento]