Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases (2015)
- Autores:
- Verloes, Alain
- Di Donato, Nataliya
- Masliah-Planchon, Julien
- Jongmans, Marjolijn
- Abdul-Raman, Omar A.
- Albrecht, Beate
- Allanson, Judith
- Brunnner, Han
- Bertola, Débora
- Chassaing, Nicolas
- David, Albert
- Devriendt, Koen
- Eftekhari, Pirayeh
- Drouin-Garraud, Valérie
- Faravelli, Francesca
- Faivre, Laurence
- Giuliano, Fabienne
- Guion-Almeida, Maria Leine
- Juncos, Jorge
- Kempers, Marlies
- Eker, Hatice Koçak
- Lacombe, Didier
- Lin, Angela
- Mancini, Grazia
- Melis, Daniela
- Lourenço, Charles Marques
- Siu, Victoria Mok
- Morin, Gilles
- Nezarati, Marjan
- Nowaczyk, Malgorzata J. M.
- Ramer, Jeanette C.
- Osimani, Sara
- Philip, Nicole
- Pierpont, Mary Ella
- Procraccio, Vincent
- Zechi-Ceide, Roseli Maria
- Rossi, Massimiliano
- Rusu, Cristina
- Sznajer, Yves
- Templin, Ludivine
- Uliana, Vera
- Klaus, Mirjam
- Van Bon, Bregje
- Van Ravenswaaij, Conny
- Wainer, Bruce
- Fry, Andrew E.
- Rump, Andreas
- Hoischen, Alexander
- Drunat, Séverine
- Rivière, Jean-Baptiste
- Dobyns, William B.
- Pilz, Daniela T.
- Autores USP: ALMEIDA, MARIA LEINE GUION DE - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC
- Unidade: HRAC
- DOI: 10.1038/ejhg.2014.95
- Assuntos: GENÉTICA MÉDICA; ANORMALIDADES CRANIOFACIAIS; MUTAÇÃO GENÉTICA
- Idioma: Inglês
- Imprenta:
- Fonte:
- Título do periódico: European Journal of Human Genetics
- ISSN: 1018-4813
- Volume/Número/Paginação/Ano: v. 23, n. 3, p. 292-301, Mar. 2015
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
VERLOES, Alain et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, v. 23, n. 3, p. 292-301, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.95. Acesso em: 24 abr. 2024. -
APA
Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., et al. (2015). Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, 23( 3), 292-301. doi:10.1038/ejhg.2014.95 -
NLM
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1038/ejhg.2014.95 -
Vancouver
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunnner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion-Almeida ML, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJM, Ramer JC, Osimani S, Philip N, Pierpont ME, Procraccio V, Zechi-Ceide RM, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière J-B, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases [Internet]. European Journal of Human Genetics. 2015 ; 23( 3): 292-301.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1038/ejhg.2014.95 - Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
- Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
- Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
- 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
- Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
- CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients
- Acrocallosal syndrome: report of a Brazilian girl
- Postaxial acrofacial dysostosis: report on two patients
- Hypertelorism: interobital growth, measurements, and pathogenetic considerations
- Sindrome de fraser. Relato de um caso
Informações sobre o DOI: 10.1038/ejhg.2014.95 (Fonte: oaDOI API)
Como citar
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas