Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome (2017)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- DOI: 10.1159/000452681
- Subjects: HIBRIDIZAÇÃO; DELEÇÃO DE GENES; DOENÇAS GENÉTICAS; CROMOSSOMOS HUMANOS
- Keywords: Comparative genomic hybridization; Deletion 11q; FLI1; Jacobsen syndrome; Ring chromosome; Thrombocytopenia Paris-Trousseau type
- Language: Inglês
- Imprenta:
- Source:
- Título: Molecular Syndromology
- ISSN: 1661-8769
- Volume/Número/Paginação/Ano: v. 8, n. 1, p. 45-49, 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
GOMES, Alexandra Galvão et al. Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome. Molecular Syndromology, v. 8, n. 1, p. 45-49, 2017Tradução . . Disponível em: https://doi.org/10.1159/000452681. Acesso em: 03 out. 2024. -
APA
Gomes, A. G., Grangeiro, C. H. P., Silva, L. R., Oliveira-Gennaro, F. G., Pereira, C. S., Joaquim, T. M., et al. (2017). Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome. Molecular Syndromology, 8( 1), 45-49. doi:10.1159/000452681 -
NLM
Gomes A G, Grangeiro C H P, Silva LR, Oliveira-Gennaro FG, Pereira CS, Joaquim TM, Panepucci RA, Squire JA, Martelli LR. Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome [Internet]. Molecular Syndromology. 2017 ; 8( 1): 45-49.[citado 2024 out. 03 ] Available from: https://doi.org/10.1159/000452681 -
Vancouver
Gomes A G, Grangeiro C H P, Silva LR, Oliveira-Gennaro FG, Pereira CS, Joaquim TM, Panepucci RA, Squire JA, Martelli LR. Complex mosaic ring chromosome 11 associated with hemizygous loss of 8.6 Mb of 11q24.2qter in atypical Jacobsen syndrome [Internet]. Molecular Syndromology. 2017 ; 8( 1): 45-49.[citado 2024 out. 03 ] Available from: https://doi.org/10.1159/000452681 - 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
- Genotype-phenotype correlation associated with inherited homozygous paracentric inversion of chromosome 12
- 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
- Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization
Informações sobre o DOI: 10.1159/000452681 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
