Mary A. Acero-Garcia - Publications

Genetic Causes of Hereditary Myopathies in a Cohort of Male Patients: Molecular Diagnosis in Myopathies.

Journal: The journal of applied laboratory medicine

Published: March 12, 2025

Epigenetic control of SOX9 gene by the histone acetyltransferase P300 in human Sertoli cells.

Journal: Heliyon

Published: January 01, 2024

Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy.

Journal: The journal of applied laboratory medicine

Published: August 19, 2022

Preimplantation genetic testing in assisted reproduction.

Journal: Minerva obstetrics and gynecology

Published: July 30, 2021

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 30, 2020

Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene.

Journal: Molecular syndromology

Published: December 17, 2019

Disorders of sex development: Genetic characterization of a patient cohort.

Journal: Molecular medicine reports

Published: March 28, 2019

Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis.

Journal: Molecular biology reports

Published: December 01, 2018

Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.

Journal: Current urology

Published: July 11, 2018

CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.

Journal: Molecular cytogenetics

Published: June 19, 2018

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.

Journal: Molecular syndromology

Published: May 22, 2017