Artigo de periodico

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly (2012)

• Authors:
  • Lines, Matthew A.
  • Huang, Lijia
  • Schwartzentruber, Jeremy
  • Douglas, Stuart L.
  • Lynch, Danielle C.
  • Beaulieu, Chandree
  • Guion-Almeida, Maria Leine
  • Zechi-Ceide, Roseli Maria
  • Gener, Blanca
  • Gillessen-Kaesbach, Gabriele
  • Nava, Caroline
  • Baujat, Geneviève
  • Horn, Denise
  • Kini, Usha
  • Caliebe, Almuth
  • Alanay, Yasemin
  • Utine, Gulen Eda
  • Lev, Dorit
  • Kohlhase, Jürgen
  • Grix, Arthur W.
  • Lohmann, Dietmar R.
  • Hehr, Ute
  • Böhm, Detlef
  • FORGE Canada Consortium
  • Majewski, Jacek
  • Bulman, Dennis E.
  • Wieczorek, Dagmar
  • Boycott, Kym M.
• Autor USP: ALMEIDA, MARIA LEINE GUION DE - HRAC
• Unidade: HRAC
• Subjects: DISOSTOSE MANDIBULOFACIAL; ANORMALIDADES CRANIOFACIAIS; TRANSTORNOS GLOBAIS DO DESENVOLVIMENTO INFANTIL
• Language: Inglês
• Imprenta:
  • Publisher place: Chicago
  • Date published: 2012
• Source:
  • Título: The American Journal of Human Genetics
  • ISSN: 0002-9297
  • Volume/Número/Paginação/Ano: v. 90, n. 2, p. 369-377, Feb. 2012


---

How to cite

A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

• ABNT

  LINES, Matthew A. et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. The American Journal of Human Genetics, v. 90, n. 2, p. 369-377, 2012Tradução . . Disponível em: http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017. Acesso em: 06 maio 2026.

• APA

  Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., et al. (2012). Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. The American Journal of Human Genetics, 90( 2), 369-377. Recuperado de http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017

• NLM

  Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly [Internet]. The American Journal of Human Genetics. 2012 ; 90( 2): 369-377.[citado 2026 maio 06 ] Available from: http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017

• Vancouver

  Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly [Internet]. The American Journal of Human Genetics. 2012 ; 90( 2): 369-377.[citado 2026 maio 06 ] Available from: http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017

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

• Conjoined twins: report of brazilian twin pair belonging to the category duplicitas incompleta ( atypical parasite twin )
• Holoprosencephaly , harmatomatous growth of the cerebrum dysplasic gangliocytoma of cerebellum, unique brain anomalies, and renal agenesis in a brazilian infant born to a diabetic mother: a clinical and pathological study
• Acrocallosal syndrome: report of a Brazilian girl
• Postaxial acrofacial dysostosis: report on two patients
• Hypertelorism: interobital growth, measurements, and pathogenetic considerations
• Autosomal recessive cleft lip palate ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family
• Craniofrontonasal syndrome: study of 41 patients
• Aarskog syndrome in a Brazilian boy born to consanguineous parents
• New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients
• Short stature, mental retardation, eye anomalies, and cleft lip/palate