Search

Your search keyword '"Gonçalves, Andressa Pereira"' showing total 11 results
Start Over Author "Gonçalves, Andressa Pereira" Publication Year Range Last 10 years
11 results on '"Gonçalves, Andressa Pereira"'

4. Finding FMR1 mosaicism in Fragile X syndrome

Author

Gonçalves, Thaís Fernandez, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Tassone, Flora, Mendoza-Morales, Guadalupe, Ribeiro, Márcia Gonçalves, Kahn, Evelyn, Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, and Santos-Rebouças, Cíntia Barros

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Child, Exons, Fragile X Mental Retardation Protein, Humans, Introns, Male, Mosaicism, Mutation, Sequence Deletion, Trinucleotide Repeat Expansion, mosaicism, deletion, FMR1 gene, copy number variation, Fragile X syndrome, Clinical sciences
Abstract

ObjectiveAlmost all patients with Fragile X Syndrome (FXS) exhibit a CGG repeat expansion (full mutation) in the Fragile Mental Retardation 1 gene (FMR1). Here, the authors report five unrelated males with FXS harboring a somatic full mutation/deletion mosaicism.MethodsMutational profiles were only elucidated by using a combination of molecular approaches (CGG-based PCR, Sanger sequencing, MS-MLPA, Southern blot and mPCR).ResultsFour patients exhibited small deletions encompassing the CGG repeats tract and flanking regions, whereas the remaining had a larger deletion comprising at least exon 1 and part of intron 1 of FMR1 gene. The presence of a 2-3 base pairs microhomology in proximal and distal non-recurrent breakpoints without scars supports the involvement of microhomology mediated induced repair (MMBIR) mechanism in three small deletions.ConclusionThe authors data highlights the importance of using different research methods to elucidate atypical FXS mutational profiles, which are clinically undistinguishable and may have been underestimated.

Published
2016

5. Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Author

Vianna, Evelyn Quintanilha, Piergiorge, Rafael Mina, Gonçalves, Andressa Pereira, dos Santos, Jussara Mendonça, Calassara, Veluma, Rosenberg, Carla, Krepischi, Ana Cristina Victorino, Boy da Silva, Raquel Tavares, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, Machado, Filipe Brum, Medina-Acosta, Enrique, Pimentel, Márcia Mattos Gonçalves, and Santos-Rebouças, Cíntia Barros

Published
2020
Full Text
View/download PDF

6. Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome

Author

da Silva, Camilla Pereira, primary, Camuzi, Diego, additional, Reis, Adriana Helena de Oliveira, additional, Gonçalves, Andressa Pereira, additional, dos Santos, Jussara Mendonça, additional, Machado, Filipe Brum, additional, Medina-Acosta, Enrique, additional, Soares-Lima, Sheila Coelho, additional, and Santos-Rebouças, Cíntia Barros, additional

Published
2023
Full Text
View/download PDF

9. Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

Author

Santos-Rebouças, Cíntia Barros, de Almeida, Luciana Guedes, Belet, Stefanie, dos Santos, Suely Rodrigues, Ribeiro, Márcia Gonçalves, da Silva, Antônio Francisco Alves, Medina-Acosta, Enrique, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Bahia, Paulo Roberto Valle, Pimentel, Márcia Mattos Gonçalves, and Froyen, Guy

Published
2015
Full Text
View/download PDF

11. FindingFMR1mosaicism in Fragile X syndrome

Author

Gonçalves, Thaís Fernandez, primary, dos Santos, Jussara Mendonça, additional, Gonçalves, Andressa Pereira, additional, Tassone, Flora, additional, Mendoza-Morales, Guadalupe, additional, Ribeiro, Márcia Gonçalves, additional, Kahn, Evelyn, additional, Boy, Raquel, additional, Gonçalves Pimentel, Márcia Mattos, additional, and Santos-Rebouças, Cíntia Barros, additional

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results