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 (2015)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Subjects: ANORMALIDADES CRANIOFACIAIS; ANORMALIDADES CROMOSSÔMICAS
- Language: Inglês
- Imprenta:
- Publisher: FMRP-USP
- Publisher place: Ribeirão Preto
- Date published: 2015
- Source:
- Título: Abstracts
- Conference titles: Workshop do Programa de Pós-Graduação em Genética
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ABNT
GRZESIUK, J. D. et al. 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. 2015, Anais.. Ribeirão Preto: FMRP-USP, 2015. . Acesso em: 24 jan. 2026. -
APA
Grzesiuk, J. D., Gomes, A. G., Grangeiro, C. H. P., Laureano, L. A. F., Huber, J., Squire, J. A., & Martelli, L. R. (2015). 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. In Abstracts. Ribeirão Preto: FMRP-USP. -
NLM
Grzesiuk JD, Gomes AG, Grangeiro CHP, Laureano LAF, Huber J, Squire JA, Martelli LR. 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. Abstracts. 2015 ;[citado 2026 jan. 24 ] -
Vancouver
Grzesiuk JD, Gomes AG, Grangeiro CHP, Laureano LAF, Huber J, Squire JA, Martelli LR. 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. Abstracts. 2015 ;[citado 2026 jan. 24 ] - Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
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- Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
- Genotype-phenotype correlation of an 8p complex rearrangement
- Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization
- Phenotype-genotype correlative characterization a case of Jacobsen Syndrome associated with a ring chromosome 11
- Karyotype-phenotype-genotype correlation in a 4p;12q rearrangement
- Karyotypy-phenotype-genotype correlation in a 4p;12q rearrangement
- Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family
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