Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family (2017)
- Authors:
- USP affiliated authors: SQUIRE, JEREMY ANDREW - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Subjects: BIOMARCADORES; CROMOSSOMOS; GENÉTICA MÉDICA; CITOGENÉTICA MOLECULAR
- Language: Inglês
- Imprenta:
- Publisher: ESHG
- Publisher place: Copenhagen
- Date published: 2017
- Source:
- Título do periódico: Abstracts
- Conference titles: European Human Genetics Conference
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ABNT
JOAQUIM, T. M.; SOUZA, D. C. de; GRANGEIRO, C. H. P.; et al. Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family. Anais.. Copenhagen: ESHG, 2017. -
APA
Joaquim, T. M., Souza, D. C. de, Grangeiro, C. H. P., Huber, J., Laus, A. C., Laureano, L. A. F., et al. (2017). Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family. In Abstracts. Copenhagen: ESHG. -
NLM
Joaquim TM, Souza DC de, Grangeiro CHP, Huber J, Laus AC, Laureano LAF, Squire JA, Martelli LR. Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family. Abstracts. 2017 ; -
Vancouver
Joaquim TM, Souza DC de, Grangeiro CHP, Huber J, Laus AC, Laureano LAF, Squire JA, Martelli LR. Familial non-disjunction and segregation variation of a supernumerary marker chromosome 15 in members of a large family. Abstracts. 2017 ; - Genotype-phenotype correlation of an 8p complex rearrangement
- Chromosomal gain at an unstable region of 15q11.2 in a family with intellectual disability and behavioral disorder
- 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
- Novas variantes de número de cópias (CNVS) na infertilidade masculina idiopática por azoospermia não obstrutiva
- 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
- High resolution array-CGH analysis apparently balanced translocations reveals complex chromosomal rearrangement and cryptic deletions associated with the phenotypes
- Karyotypy-phenotype-genotype correlation in a 4p;12q rearrangement
- Genotype-phenotype correlation associated with inherited homozygous paracentric inversion of chromosome 12
- Phenotype-genotype correlative characterization a case of Jacobsen Syndrome without thrombocytopenia associated with a ring chromosome 11
- Analysis of complex duplication-deletion (8p) rearrangement: clinical, cytogenetic and array comparative genomic characterization
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