Renata Bocciardi

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 702 citations

Somatic Variant, Point Mutations, Mendelian Disorder +10

Loss of function effect of RET mutations causing Hirschsprung disease

Barbara Pasini, Maria Grazia Borrello, Angela Greco et al. · Nature Genetics · 1995 · 217 citations

Gene Therapies, Ret Mutations, Genetic Disorder +7

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

Isabella Ceccherini, Robert M.W. Hofstra, Yang Luo et al. · PubMed · 1994 · 164 citations

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Marco Seri, Yin Luo, Virginia Barone et al. · Human Mutation · 1997 · 137 citations

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

Renata Bocciardi, Roberto Giorda, Jens Buttgereit et al. · Human Mutation · 2007 · 130 citations