Isabella Gazzoli

A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.

Isabella Gazzoli, Massimo Loda, Judy E. Garber et al. · PubMed · 2002 · 249 citations

Epigenetic Change, Genetics, Pathology +17

Non-sequential and multi-step splicing of the dystrophin transcript

Isabella Gazzoli, Irina Pulyakhina, Nisha Verwey et al. · RNA Biology · 2015 · 70 citations · Full text

Genetics, Rna Splicing, Molecular Biology +16

Regulation of the Human MSH6 Gene by the Sp1 Transcription Factor and Alteration of Promoter Activity and Expression by Polymorphisms

Isabella Gazzoli, Richard D. Kolodner · Molecular and Cellular Biology · 2003 · 61 citations · Full text

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

Valeria Pensotti, Paolo Radice, Silvano Presciuttini et al. · Genes Chromosomes and Cancer · 1997 · 50 citations

Genome Instability, Oncology, Somatic Variant +13

Comprehensive Molecular Analysis of Mismatch Repair Gene Defects in Suspected Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Cases

James Mueller, Isabella Gazzoli, Prathap Bandipalliam et al. · Cancer Research · 2009 · 46 citations · Full text

Genetics, Pathology, Molecular Genetics +16