Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11 (2015)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Subjects: ANORMALIDADES CROMOSSÔMICAS; MALFORMAÇÕES
- Language: Inglês
- Imprenta:
- Publisher: FMRP-USP
- Publisher place: Ribeirão Preto
- Date published: 2015
- Source:
- Título do periódico: Abstracts
- Conference titles: Workshop do Programa de Pós-Graduação em Genética
-
ABNT
GOMES, A. G. et al. Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11. 2015, Anais.. Ribeirão Preto: FMRP-USP, 2015. . Acesso em: 18 abr. 2024. -
APA
Gomes, A. G., Grangeiro, C. H. P., Pereira, C. S., Gennaro, F. G. O., Panepucci, R. A., Squire, J. A., & Martelli, L. R. (2015). Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11. In Abstracts. Ribeirão Preto: FMRP-USP. -
NLM
Gomes AG, Grangeiro CHP, Pereira CS, Gennaro FGO, Panepucci RA, Squire JA, Martelli LR. Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11. Abstracts. 2015 ;[citado 2024 abr. 18 ] -
Vancouver
Gomes AG, Grangeiro CHP, Pereira CS, Gennaro FGO, Panepucci RA, Squire JA, Martelli LR. Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11. Abstracts. 2015 ;[citado 2024 abr. 18 ] - Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
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- Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization
- 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
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