Topic Area: genetic and Related Anomalies. Genic locus investigation in families with Richieri-Costa-Pereira Syndrome (2011)
- Authors:
- USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; FAVARO, FRANCINE PINHEIRO - HRAC
- Unidades: HRAC; IB
- Subjects: ANORMALIDADES MÚLTIPLAS; DOENÇAS GENÉTICAS; DISOSTOSE CRÂNIOFACIAL
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo
- Publisher place: Bauru
- Date published: 2011
- Source:
- Título: Abstracts
- Conference titles: International Meeting on Craniofacial Anomalies: Clinical Phenotype, Genes Related and New Perspectives
-
ABNT
FAVARO, Francine Pinheiro et al. Topic Area: genetic and Related Anomalies. Genic locus investigation in families with Richieri-Costa-Pereira Syndrome. 2011, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2011. Disponível em: https://repositorio.usp.br/directbitstream/aec831c0-276d-48d8-9107-24346633c5a8/3253221.pdf. Acesso em: 29 dez. 2025. -
APA
Favaro, F. P., Zechi-Ceide, R. M., Richieri-Costa, A., Twigg, S., Wilkie, S., Passos-Bueno, M. R., & Guion-Almeida, M. L. (2011). Topic Area: genetic and Related Anomalies. Genic locus investigation in families with Richieri-Costa-Pereira Syndrome. In Abstracts. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/aec831c0-276d-48d8-9107-24346633c5a8/3253221.pdf -
NLM
Favaro FP, Zechi-Ceide RM, Richieri-Costa A, Twigg S, Wilkie S, Passos-Bueno MR, Guion-Almeida ML. Topic Area: genetic and Related Anomalies. Genic locus investigation in families with Richieri-Costa-Pereira Syndrome [Internet]. Abstracts. 2011 ;[citado 2025 dez. 29 ] Available from: https://repositorio.usp.br/directbitstream/aec831c0-276d-48d8-9107-24346633c5a8/3253221.pdf -
Vancouver
Favaro FP, Zechi-Ceide RM, Richieri-Costa A, Twigg S, Wilkie S, Passos-Bueno MR, Guion-Almeida ML. Topic Area: genetic and Related Anomalies. Genic locus investigation in families with Richieri-Costa-Pereira Syndrome [Internet]. Abstracts. 2011 ;[citado 2025 dez. 29 ] Available from: https://repositorio.usp.br/directbitstream/aec831c0-276d-48d8-9107-24346633c5a8/3253221.pdf - Van Der Woude syndrome/popliteal pterigium syndrome: clinical and genetic variability in brazilian patients with IRF6 gene mutations
- A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects
- Alobar holoprosencephaly in 2 sibs: an autosomal recessive type?
- Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
- Mutação no gene EFNB1 em indivíduos com displasia craniofrontonasal
- Screening of mutations in EFNB1 gene in Brazilian individuals with craniofrontonasal dysplasia and in male with isolated frontonasal dysplasia: diagnostic implication
- Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
- Robin sequence with cleft mandible and limb anomalies: a brazilian founder condition or an extremely rare syndrome?
- Refinamento citogenético em indivíduos com anomalias craniofaciais sindrômicas sem diagnóstico definido
- Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
Download do texto completo
| Tipo | Nome | Link | |
|---|---|---|---|
| 3253221.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
