Romano Tenconi

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio et al. · Nature Genetics · 2007 · 694 citations

Cardiomyopathy, Mendelian Disorder, Genetic Disorder +6

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad et al. · The American Journal of Human Genetics · 2001 · 376 citations · Full text

Eec Syndrome, Developmental Biology, Genetic Disorder +8

Risk of congenital anomalies near hazardous-waste landfill sites in Europe: the EUROHAZCON study

Helen Dolk, Martine Vrijheid, Ben Armstrong et al. · The Lancet · 1998 · 331 citations

Eurohazcon Study, Environmental Health, Congenital Anomalies +3

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin, Patricia Birch, Bruce R. Korf et al. · American Journal of Medical Genetics · 2000 · 239 citations