Genotype-phenotype correlation of an 8p complex rearrangement (2015)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Subjects: GENÓTIPOS; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título: Poster Abstracts
- Conference titles: Annual Meeting of the American Society of Human Genetics
-
ABNT
MARTELLI, Lúcia Regina et al. Genotype-phenotype correlation of an 8p complex rearrangement. 2015, Anais.. Baltimore: ASHG, 2015. . Acesso em: 27 fev. 2026. -
APA
Martelli, L. R., Grangeiro, C. H. P., Gomes, A. G., Joaquim, T. M., Laureano, L. A. F., Grzesiuk, J. D., et al. (2015). Genotype-phenotype correlation of an 8p complex rearrangement. In Poster Abstracts. Baltimore: ASHG. -
NLM
Martelli LR, Grangeiro CHP, Gomes AG, Joaquim TM, Laureano LAF, Grzesiuk JD, Gennaro FGO, Huber J, Squire JA. Genotype-phenotype correlation of an 8p complex rearrangement. Poster Abstracts. 2015 ;[citado 2026 fev. 27 ] -
Vancouver
Martelli LR, Grangeiro CHP, Gomes AG, Joaquim TM, Laureano LAF, Grzesiuk JD, Gennaro FGO, Huber J, Squire JA. Genotype-phenotype correlation of an 8p complex rearrangement. Poster Abstracts. 2015 ;[citado 2026 fev. 27 ] - Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation
- 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
- 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
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
