M. Villa
Hospital Clínic de Barcelona(ES)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Ubiquitin and proteasome pathways
Most-Cited Works
- → Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples(1995)61 cited
- → Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.(1996)46 cited
- → Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation(1997)30 cited
- → Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families(1994)25 cited
- → Single-strand conformation polymorphism analysis in theFMR1(1999)6 cited
- → Single‐strand conformation polymorphism analysis in the FMR1(1999)