X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation (2013)
- Authors:
- USP affiliated authors: MORGANTE, ANGELA MARIA VIANNA - IB ; COSTA, SILVIA SOUZA DA - IB ; ROSENBERG, CARLA - IB
- Unidade: IB
- Subjects: GENÉTICA; CROMOSSOMO X; DEFICIÊNCIA MENTAL
- Language: Inglês
- Imprenta:
- Publisher: Genetic and Epigenetic Networks in Cognitive Dysfunction - GENCODY
- Publisher place: Paphos
- Date published: 2013
- Source:
- Título do periódico: Poster Abstracts
- Conference titles: International GENCODYS Conference. Integrative Networks in Intellectual Disabilities
-
ABNT
VIANNA-MORGANTE, Angela M et al. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. 2013, Anais.. Paphos: Genetic and Epigenetic Networks in Cognitive Dysfunction - GENCODY, 2013. . Acesso em: 24 abr. 2024. -
APA
Vianna-Morgante, A. M., Oliveira-Santos, J., Costa, S. S., Bonaldi, A., Krepischi, A. C. V., & Rosenberg, C. (2013). X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. In Poster Abstracts. Paphos: Genetic and Epigenetic Networks in Cognitive Dysfunction - GENCODY. -
NLM
Vianna-Morgante AM, Oliveira-Santos J, Costa SS, Bonaldi A, Krepischi ACV, Rosenberg C. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Poster Abstracts. 2013 ;[citado 2024 abr. 24 ] -
Vancouver
Vianna-Morgante AM, Oliveira-Santos J, Costa SS, Bonaldi A, Krepischi ACV, Rosenberg C. X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation. Poster Abstracts. 2013 ;[citado 2024 abr. 24 ] - PLP1 duplication at the breakpoint regions of an apparently balanced t(X,22) translocation causes Pelizaeus-Merzbacher disease in a girl
- Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene
- Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
- Identificação de um cromossomo marcador derivado do 8 por hibridação in situ fluorescente (fish)
- Intragenic reorganization of rb1 in a complex (4 ; 13) rearrangement demonstrated by fish
- Identification of a supernumerary marker derived from chromosome 17 using fish
- Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome
- A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
- Intragenic rearrangement of rbl gene in a (4 ; 13) translocation demonstrated by fish
- Caracterizacao de marcadores derivados de cromossomos sexuais atraves da hibridacao in situ por fluorescencia (fish)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas