Duplication in splicing site of intron 2 of gene PTCH1 in seven patients with holoprosencephaly (2011)
- Authors:
- USP affiliated authors: BICUDO, LUCILENE ARILHO RIBEIRO - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; LEGNARO, CHIARA DE CAMPOS - HRAC
- Unidade: HRAC
- Subjects: HOLOPROSENCEFALIA; MUTAÇÃO GENÉTICA; ANORMALIDADES CONGÊNITAS
- 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
BERTOLACINI, Claudia Danielli Pereira et al. Duplication in splicing site of intron 2 of gene PTCH1 in seven patients with holoprosencephaly. 2011, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2011. Disponível em: https://repositorio.usp.br/directbitstream/b433a5d9-e9ce-46e3-b97b-ae96cd6f76a9/3247647.pdf. Acesso em: 28 dez. 2025. -
APA
Bertolacini, C. D. P., Ribeiro-Bicudo, L. A., Petrin, A., Legnaro, C. de C., Goes, L. D., Ramalho, R., et al. (2011). Duplication in splicing site of intron 2 of gene PTCH1 in seven patients with holoprosencephaly. In Abstracts. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/b433a5d9-e9ce-46e3-b97b-ae96cd6f76a9/3247647.pdf -
NLM
Bertolacini CDP, Ribeiro-Bicudo LA, Petrin A, Legnaro C de C, Goes LD, Ramalho R, Richieri-Costa A, Murray JC. Duplication in splicing site of intron 2 of gene PTCH1 in seven patients with holoprosencephaly [Internet]. Abstracts. 2011 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/b433a5d9-e9ce-46e3-b97b-ae96cd6f76a9/3247647.pdf -
Vancouver
Bertolacini CDP, Ribeiro-Bicudo LA, Petrin A, Legnaro C de C, Goes LD, Ramalho R, Richieri-Costa A, Murray JC. Duplication in splicing site of intron 2 of gene PTCH1 in seven patients with holoprosencephaly [Internet]. Abstracts. 2011 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/b433a5d9-e9ce-46e3-b97b-ae96cd6f76a9/3247647.pdf - Relato de uma microduplicação na região 22Q11
- Análise do gene modificador GAS1 em pacientes com holoprosencefalia
- Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-Mb distal microduplication at 22q11.2
- Association of folate metabolism genes with brazilian cases of nonsyndromic cleft lip and/or palate
- Ocular findings in a patient with a pathogenic mutation in the PTCH gene
- Análise do gene ZIC2 em pacientes brasileiros com espectro da holoprosencefalia
- Array-based comparative genomic hybridiation in 80 Brazilian cases with eye malformations
- Investigação de alterações na região 22Q11 em indivíduos com fissura de palato
- Holoprosencephaly and holoprosencephaly-like studies at HRACUSP, Bauru
- Holoprosencephaly: retrospective study in 24 cases
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