Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding (2014)
- Authors:
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC
- Unidade: HRAC
- Subjects: MUTAÇÃO GENÉTICA; MALFORMAÇÕES; DOENÇAS GENÉTICAS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Abstracts
- Conference titles: European Human Genetics Conference
-
ABNT
TAVARES, Vanessa Luiza et al. Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding. 2014, Anais.. Milan: ESHG, 2014. . Acesso em: 13 maio 2024. -
APA
Tavares, V. L., Gordon, C. T., Torres, T., Voisin, N., Bertola, D., Ceide, R. M. Z., et al. (2014). Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding. In Abstracts. Milan: ESHG. -
NLM
Tavares VL, Gordon CT, Torres T, Voisin N, Bertola D, Ceide RMZ, Tan TY, Heggie AAC, Propst E, Papsin BC, Nakata NMK, Guion-Almeida ML, Pittoli SVP, Lyonnet S, Amiel J, Passos-Bueno MR. Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding. Abstracts. 2014 ;[citado 2024 maio 13 ] -
Vancouver
Tavares VL, Gordon CT, Torres T, Voisin N, Bertola D, Ceide RMZ, Tan TY, Heggie AAC, Propst E, Papsin BC, Nakata NMK, Guion-Almeida ML, Pittoli SVP, Lyonnet S, Amiel J, Passos-Bueno MR. Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding. Abstracts. 2014 ;[citado 2024 maio 13 ] - Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
- Clinical genetic diagnostic and follow up of patients with Robin Sequence: an 13 years of experience at HRAC-USP
- O serviço de genética clínica no HRAC-USP
- O serviço de genética clínica no HRAC/USP
- O Serviço de Genética Clínica no HRAC-USP
- O serviço de genética no HRAC-USP
- A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
- Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
- O Serviço de genética clínica no HRAC-USP
- Microcephaly, cleft lip/palate and intellectual disabilities in siblings. A new familial case of Richieri-Costa/Guion Almeida syndrome type 1?
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
