A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

por Hadd, Andrew G., Filipovic-Sadic, Stela, Zhou, Lili, Williams, Arianna, Latham, Gary J., Berry-Kravis, Elizabeth, Hall, Deborah A.
Publicado 2016

Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study

por Barad, David H., Darmon, Sarah, Weghofer, Andrea, Latham, Gary J., Filipovic-Sadic, Wang, Qi, Kushnir, Vitaly A., Albertini, David F., Gleicher, Norbert
Publicado 2017

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

por Budimirovic, Dejan B., Schlageter, Annette, Filipovic-Sadic, Stela, Protic, Dragana D., Bram, Eran, Mahone, E. Mark, Nicholson, Kimberly, Culp, Kristen, Javanmardi, Kamyab, Kemppainen, Jon, Hadd, Andrew, Sharp, Kevin, Adayev, Tatyana, LaFauci, Giuseppe, Dobkin, Carl, Zhou, Lili, Brown, William Ted, Berry-Kravis, Elizabeth, Kaufmann, Walter E., Latham, Gary J.
Publicado 2020