Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation (2015)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- DOI: 10.1159/000446523
- Subjects: CITOGENÉTICA; HIBRIDIZAÇÃO; CROMOSSOMOS; GENOMAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Cytogenetic and Genome Research
- ISSN: 1424-8581
- Volume/Número/Paginação/Ano: v. 148, p. 141, res. VI3, 2016
- Conference titles: International Chromosome Conference (ICC)
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
MARTELLI, Lúcia Regina et al. Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation. Cytogenetic and Genome Research. Basel: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Disponível em: https://doi.org/10.1159/000446523. Acesso em: 07 maio 2026. , 2015 -
APA
Martelli, L. R., Gomes, A. G., Grangeiro, C. H. P., Oliveira-Gennaro, F. G., Grzesiuk, J. D., Joaquim, T. M., et al. (2015). Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation. Cytogenetic and Genome Research. Basel: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. doi:10.1159/000446523 -
NLM
Martelli LR, Gomes AG, Grangeiro CHP, Oliveira-Gennaro FG, Grzesiuk JD, Joaquim TM, Santos SA, Huber J, Squire JA. Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation [Internet]. Cytogenetic and Genome Research. 2015 ; 148 141.[citado 2026 maio 07 ] Available from: https://doi.org/10.1159/000446523 -
Vancouver
Martelli LR, Gomes AG, Grangeiro CHP, Oliveira-Gennaro FG, Grzesiuk JD, Joaquim TM, Santos SA, Huber J, Squire JA. Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation [Internet]. Cytogenetic and Genome Research. 2015 ; 148 141.[citado 2026 maio 07 ] Available from: https://doi.org/10.1159/000446523 - 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
- High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
- Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
- Genotype-phenotype correlation of an 8p complex rearrangement
- High resolution mapping of 12p in a patient with a mild phenotype of Pallister-Killian syndrome indicates duplication by interstitial gain of 12p11.21-p13.31
- Genotype-phenotype correlation associated with inherited homozygous paracentric inversion of chromosome 12
- High resolution array-CGH analysis of apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
- Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11
- Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome
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