Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization (2015)
- Autores:
- Autores USP: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Assuntos: CITOGENÉTICA; CROMOSSOMOS HUMANOS
- Idioma: Inglês
- Imprenta:
- Editora: FMRP-USP
- Local: Ribeirão Preto
- Data de publicação: 2015
- Fonte:
- Título do periódico: Abstracts
- Nome do evento: Workshop do Programa de Pós-Graduação em Genética
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ABNT
GRANGEIRO, C. H. P. et al. Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization. 2015, Anais.. Ribeirão Preto: FMRP-USP, 2015. . Acesso em: 19 abr. 2024. -
APA
Grangeiro, C. H. P., Gomes, A. G., Laureano, L. A. F., Joaquim, T. M., Squire, J. A., & Martelli, L. R. (2015). Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization. In Abstracts. Ribeirão Preto: FMRP-USP. -
NLM
Grangeiro CHP, Gomes AG, Laureano LAF, Joaquim TM, Squire JA, Martelli LR. Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization. Abstracts. 2015 ;[citado 2024 abr. 19 ] -
Vancouver
Grangeiro CHP, Gomes AG, Laureano LAF, Joaquim TM, Squire JA, Martelli LR. Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization. Abstracts. 2015 ;[citado 2024 abr. 19 ] - Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11
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- Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation
- High resolution array-CGH analysis of apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
- Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family
- Phenotype-genotype correlative characterization a case of Jacobsen Syndrome associated with a ring chromosome 11
- Genotype-phenotype correlation with ring chromosome 11
- Genotype-phenotype correlation associated with inherited homozygous paracentric inversion of chromosome 12
- Karyotype-phenotype-genotype correlation in a 4p;12q rearrangement
- Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome
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