Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder (2015)
- Autores:
- Autores USP: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Assuntos: CITOGENÉTICA; DEFICIÊNCIA MENTAL; DOENÇAS NEONATAIS E ANORMALIDADES
- 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
GENNARO, F. G. O. et al. Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder. 2015, Anais.. Ribeirão Preto: FMRP-USP, 2015. . Acesso em: 24 abr. 2024. -
APA
Gennaro, F. G. O., Gomes, A. G., Josahkian, J. A., Pontes, S. E., Laureano, L. A. F., Santos, S. A., et al. (2015). Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder. In Abstracts. Ribeirão Preto: FMRP-USP. -
NLM
Gennaro FGO, Gomes AG, Josahkian JA, Pontes SE, Laureano LAF, Santos SA, Squire JA, Martelli LR. Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder. Abstracts. 2015 ;[citado 2024 abr. 24 ] -
Vancouver
Gennaro FGO, Gomes AG, Josahkian JA, Pontes SE, Laureano LAF, Santos SA, Squire JA, Martelli LR. Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder. Abstracts. 2015 ;[citado 2024 abr. 24 ] - Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11
- 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
- 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
- Karyotypy-phenotype-genotype correlation in a 4p;12q rearrangement
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