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Vera Ayres Meloni

Researcher at Federal University of São Paulo

Publications -  33
Citations -  567

Vera Ayres Meloni is an academic researcher from Federal University of São Paulo. The author has contributed to research in topics: Ring chromosome & Gene. The author has an hindex of 10, co-authored 29 publications receiving 482 citations. Previous affiliations of Vera Ayres Meloni include University of São Paulo.

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Mechanisms of ring chromosome formation, ring instability and clinical consequences

TL;DR: The clinical phenotype of patients with ring chromosomes may be related with different factors, including gene haploinsufficiency, gene duplications and ring instability, as observed in patients with complete r(14) and r(22).
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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

TL;DR: Target sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome provided new insights into the relationship of genotype to epigenotype and phenotype and indicate cross-talk between histone and DNA methylation machineries exposed by inborn errors of the epigenetic apparatus.
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X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations

TL;DR: The impact of the gene interruptions in transcription and the consequences of their functional impairment in neurodevelopment are addressed and the disruption of an X‐linked intellectual disability‐related gene in patients with balanced X‐autosome translocation is revealed.