Melissa Vasquez

San Jose, SJ 2060, Costa Rica

Last Updated: 09/26/2026

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Found 8 publications

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.

Journal: Human molecular genetics

Published: April 08, 2022

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent.

Journal: Human molecular genetics

Published: June 11, 2021

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Journal: Cells

Published: December 16, 2020

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.

Journal: Human molecular genetics

Published: December 09, 2019

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.

Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.

Journal: PloS one

Published: November 23, 2018

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.

A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.

Journal: DNA repair

Published: August 03, 2015

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.

Journal: Human mutation

Published: March 17, 2015

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.

Journal: European journal of human genetics : EJHG

Published: November 13, 2013

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Last Updated: 09/26/2026