F Ballesta
Hospital Clínic de Barcelona(ES)Consorci Institut D'Investigacions Biomediques August Pi I Sunyer(ES)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Alzheimer's disease research and treatments, Sperm and Testicular Function, Neonatal Respiratory Health Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.(1998)105 cited
- Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.(1992)
- → Mutation analysis of Wilson disease in the Spanish population - identification of a prevalent substitution and eight novel mutations in the ATP7B gene(2005)96 cited
- Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.(1994)
- → A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures(1999)49 cited
- → Dentatorubropallidoluysian atrophy in a Spanish family: a clinical, radiological, pathological, and genetic study(1999)42 cited
- Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21.(1999)
- → Meiotic and sperm chromosome studies in a reciprocal translocation t(1;2)(q32;q36)(1990)27 cited