Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder (2015)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Subjects: CITOGENÉTICA; DEFICIÊNCIA MENTAL; DOENÇAS NEONATAIS E ANORMALIDADES
- Language: Inglês
- Imprenta:
- Source:
- Título: Resumos
- Conference titles: Reunião Brasileira de Citogenética
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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.. Atibaia: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 2015. . Acesso em: 12 fev. 2026. -
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 Resumos. Atibaia: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. -
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. Resumos. 2015 ;[citado 2026 fev. 12 ] -
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. Resumos. 2015 ;[citado 2026 fev. 12 ] - Applications of cytogenomic characterization of chromosomal rearrangements to establish a more precise phenotype-genotype correlation
- 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
- 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
- Genotype-phenotype correlation with ring chromosome 11
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