Mileny S. Colovati
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 9 publications
Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.
Journal: American journal of medical genetics. Part A
Published: November 13, 2020
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
Journal: Molecular genetics & genomic medicine
Published: July 18, 2019
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.
Journal: Genetics and molecular biology
Published: July 12, 2019
Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.
Journal: Cytogenetic and genome research
Published: June 12, 2019
Clinical and cytogenomic findings in OAV spectrum.
Journal: American journal of medical genetics. Part A
Published: June 06, 2017
Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome.
Journal: Cytogenetic and genome research
Published: April 18, 2017
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Journal: European journal of human genetics : EJHG
Published: November 10, 2016
Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.
Journal: Cytogenetic and genome research
Published: August 10, 2016
Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.
Journal: Cytogenetic and genome research
Published: November 24, 2015
Showing 1-9 of 9
Last Updated: 09/26/2026