Investigation of 15q11-q13, 16p11. 2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy

DP Moreira, K Griesi-Oliveira, AL Bossolani-Martins… - PLoS …, 2014 - journals.plos.org
Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-
q13, 16p11. 2 and 22q13 have been reported as the most frequent. These CNVs exhibit …

Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

ES Moreira, IMW Silva, N Lourenco, DP Moreira… - Research in Autism …, 2016 - Elsevier
Autism spectrum disorder (ASD) has a strong genetic basis and advances in genomic
scanning methods have resulted in the identification of the underlying alterations in about …

Brazil and autism

H Brentani, GV Polanczyk, EC Miguel - Encyclopedia of Autism Spectrum …, 2021 - Springer
Standardized diagnostic tools are critical in terms of assessing Autism Spectrum Disorder
(ASD). There is an increasing interest in how culture, sex, social economic status, and other …

Selection of suitable reference genes for analysis of salivary transcriptome in non-syndromic autistic male children

Y Panahi, F Salasar Moghaddam, Z Ghasemi… - International Journal of …, 2016 - mdpi.com
Childhood autism is a severe form of complex genetically heterogeneous and behaviorally
defined set of neurodevelopmental diseases, collectively termed as autism spectrum …

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and …

M Hemmat, X Yang, P Chan, RA McGough… - Molecular …, 2014 - Springer
Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural
rearrangements involving three or more cytogenetic breakpoints on two or more …

[PDF][PDF] FMR1 premutation in children with autism spectrum disorders: Should additional diagnostic tests be performed?

ACDS Girardi, VN van Opstal Takahashi… - American Journal of …, 2022 - researchgate.net
FMR1 premutation in children with Autism Spectrum Disorders: should additional diagnostic
tests be performed? Page 1 RESEARCH LETTER FMR1 premutation in children with autism …

A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in …

RS Guilherme, M Cernach, TE Sfakianakis… - … and Genome Research, 2013 - karger.com
Constitutional complex chromosomal rearrangements (CCRs) are considered rare
cytogenetic events. Most apparently balanced CCRs are de novo and are usually found in …

Estudos de comorbidades e dos aspectos genéticos de pacientes com transtorno do espectro autista

DP Moreira - 2012 - teses.usp.br
O transtorno do espectro autista (ASD) é uma doença clinica e geneticamente heterogênea,
com mecanismo etiológico ainda pouco conhecido. Assim, os principais objetivos deste …

Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history

PK Priya, VV Mishra, T Liehr, M Ziegler, S Tiwari… - Journal of Assisted …, 2018 - Springer
Background Complex chromosomal rearrangements (CCRs) are rare structural
chromosomal aberrations characterized by more than two breakpoints in one or more …

[PDF][PDF] Estudos de comorbidades e dos aspectos genéticos de pacientes com transtorno do espectro autista

D de Paula Moreira - scholar.archive.org
O transtorno do espectro autista (sigla do inglês, ASD) se caracteriza pela dificuldade na
interação social e na comunicação e pelo comportamento restrito e repetitivo de interesse …