M
Monica C. Varela
Researcher at University of São Paulo
Publications - 27
Citations - 1287
Monica C. Varela is an academic researcher from University of São Paulo. The author has contributed to research in topics: Angelman syndrome & Uniparental disomy. The author has an hindex of 17, co-authored 27 publications receiving 1189 citations.
Papers
More filters
Journal ArticleDOI
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Charles Shaw-Smith,Alan M. Pittman,Lionel Willatt,Howard Martin,L Rickman,Susan M. Gribble,Rebecca Curley,Sally Cumming,Carolyn Dunn,Dimitrios Kalaitzopoulos,K M Porter,Elena Prigmore,Ana Cristina Victorino Krepischi-Santos,Monica C. Varela,Célia Priszkulnik Koiffmann,Andrew J. Lees,Carla Rosenberg,Helen V. Firth,Rohan de Silva,Nigel P. Carter +19 more
TL;DR: It is shown that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome and this region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs).
Journal ArticleDOI
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
Ana Cristina Victorino Krepischi-Santos,Angela Maria Vianna-Morgante,Fernanda Sarquis Jehee,Maria Rita Passos-Bueno,Jeroen Knijnenburg,Karoly Szuhai,Willem C. R. Sloos,Juliana F. Mazzeu,Fernando Kok,Carola Cheroki,Paulo Alberto Otto,Regina Célia Mingroni-Netto,Monica C. Varela,Célia Priszkulnik Koiffmann,Chong Ae Kim,Débora Romeo Bertola,Peter L. Pearson,Carla Rosenberg +17 more
TL;DR: array-CGH screening of 95 syndromic patients with normal G-banded karyotypes and at least one of the following features: mental retardation, heart defects, deafness, obesity, craniofacial dysmorphisms or urogenital tract malformations demonstrates that ascertainment through whole-genome screening of syndroming patients by array- CGH leads not only to the description of new syndromes, but also to the recognition of a broader spectrum of features
Journal ArticleDOI
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
TL;DR: The data suggest that gene deletions mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1–BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2–BP 3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning.
Journal ArticleDOI
Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients
TL;DR: This study did not detect significant phenotypic differences among type I and type II PWS deletion patients, but it did demonstrate that seizures were six times more common in patients with a deletion than in those with UPD.
Journal ArticleDOI
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
Monica C. Varela,Alex Y. Simões-Sato,Chong Ae Kim,Débora Romeo Bertola,C. I. E. Castro,Célia Priszkulnik Koiffmann +5 more
TL;DR: In this paper, the authors report cytogenetic and gene studies including a screening for the SIM1 gene deletion, performed on 87 patients with PWS-like phenotype, and describe the fifth case of syndromic obesity with an interstitial deletion of the chromosome segment 6q16-q21.