Romano Tenconi
University of Padua(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Neurofibromatosis and Schwannoma Cases, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation
Most-Cited Works
- → Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy(2007)696 cited
- → Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair(2009)413 cited
- → p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation(2001)377 cited
- → Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON study(1998)331 cited
- → Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1(2000)240 cited
- → The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype(1981)206 cited