Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia (2015)
- Authors:
- Gordon, Christopher T
- Weaver, K. Nicole
- Zechi-Ceide, Roseli Maria
- Madsen, Erik C.
- Tavares, Andre L. P.
- Oufadem, Myriam
- Kurihara, Yukiko
- Adameyko, Igor
- Picard, Arnaud
- Breton, Sylvain
- Pierrot, Sébastien
- Biosse-Duplan, Martin
- Voisin, Norine
- Masson, Cécile
- Bole-Feysot, Christine
- Nitschké, Patrick
- Delrue, Marie-Ange
- Lacombe, Didier
- Guion-Almeida, Maria Leine
- Moura, Priscila Padilha
- Garib, Daniela Gamba
- Munnich, Arnold
- Ernfors, Patrik
- Hufnagel, Robert B.
- Hopkin, Robert J.
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; CARREIRA, DANIELA GAMBA GARIB - FOB
- Unidades: HRAC; FOB
- DOI: 10.1016/j.ajhg.2015.01.015
- Subjects: ALOPECIA; DISOSTOSE MANDIBULOFACIAL; MUTAÇÃO GENÉTICA; TOMOGRAFIA COMPUTADORIZADA POR RAIOS X
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Human Genetics
- ISSN: 0002-9297
- Volume/Número/Paginação/Ano: v. 96, n. 4, p. 519-531, Apr. 2015
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: publisher-specific-oa
-
ABNT
GORDON, Christopher T et al. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics, v. 96, n. 4, p. 519-531, 2015Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2015.01.015. Acesso em: 19 abr. 2024. -
APA
Gordon, C. T., Weaver, K. N., Zechi-Ceide, R. M., Madsen, E. C., Tavares, A. L. P., Oufadem, M., et al. (2015). Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics, 96( 4), 519-531. doi:10.1016/j.ajhg.2015.01.015 -
NLM
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue M-A, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia [Internet]. American Journal of Human Genetics. 2015 ; 96( 4): 519-531.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.ajhg.2015.01.015 -
Vancouver
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue M-A, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia [Internet]. American Journal of Human Genetics. 2015 ; 96( 4): 519-531.[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.ajhg.2015.01.015 - Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Mandibulofacial dysostosis Bauru type Clinical genetics and radiological aspects in 13 patients: clinical genetics and radiological aspects in 13 patients
- Three-dimensional analysis of the mandible and the zygomatic arch of seven brazilian patients with mandibulofacial dysostosis
- Phenotypic refinement of the mandibulofacial dysostosis Bauru type
- Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
- Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
- 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
- CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients
- Acrocallosal syndrome: report of a Brazilian girl
Informações sobre o DOI: 10.1016/j.ajhg.2015.01.015 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas