High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes (2017)
- Authors:
- USP affiliated authors: MARTELLI, LUCIA REGINA - FMRP ; SQUIRE, JEREMY ANDREW - FMRP
- Unidade: FMRP
- Subjects: GENÓTIPOS; FENÓTIPOS; TRANSLAÇÃO GÊNICA
- Keywords: Chromosomal rearrangement; Apparently balanced translocation; array CGH; Genotype-Phenotype correlation
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Semina: Ciências Biológicas e da Saúde
- Volume/Número/Paginação/Ano: v. 38, n. 1, supl. 1, p. 183, 2017
- Conference titles: Reunião Brasileira de Citogenética e Citogenômica
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ABNT
JOAQUIM, Tatiana Mozer et al. High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes. Semina: Ciências Biológicas e da Saúde. Londrina: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Disponível em: http://www.uel.br/revistas/uel/index.php/seminabio/article/view/30006. Acesso em: 30 set. 2024. , 2017 -
APA
Joaquim, T. M., Grangeiro, C. H. P., Gennaro, F. G. de O., Albuquerque, C. G. P. de, Huber, J., Squire, J. A., & Martelli, L. R. (2017). High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes. Semina: Ciências Biológicas e da Saúde. Londrina: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Recuperado de http://www.uel.br/revistas/uel/index.php/seminabio/article/view/30006 -
NLM
Joaquim TM, Grangeiro CHP, Gennaro FG de O, Albuquerque CGP de, Huber J, Squire JA, Martelli LR. High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes [Internet]. Semina: Ciências Biológicas e da Saúde. 2017 ; 38( 1): 183.[citado 2024 set. 30 ] Available from: http://www.uel.br/revistas/uel/index.php/seminabio/article/view/30006 -
Vancouver
Joaquim TM, Grangeiro CHP, Gennaro FG de O, Albuquerque CGP de, Huber J, Squire JA, Martelli LR. High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes [Internet]. Semina: Ciências Biológicas e da Saúde. 2017 ; 38( 1): 183.[citado 2024 set. 30 ] Available from: http://www.uel.br/revistas/uel/index.php/seminabio/article/view/30006 - High resolution array-CGH analysis of apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
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- Phenotype-genotype correlative characterization a case of Jacobsen Syndrome associated with a ring chromosome 11
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- 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
- Genotype-phenotype correlation associated with inherited homozygous paracentric inversion of chromosome 12
- Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
- Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization
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