Marina Murdolo

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

Marcella Zollino, Rosetta Lecce, Rita Fischetto et al. · The American Journal of Human Genetics · 2003 · 268 citations · Full text

Wolf-hirschhorn Syndrome Phenotype, Developmental Biology, Mendelian Disorder +8

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino, Daniela Orteschi, Marina Murdolo et al. · Nature Genetics · 2012 · 160 citations

Mendelian Disorder, Microdeletion Syndrome Phenotype, Genetic Disorder +4

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

Francesca Faravelli, Marina Murdolo, Giuseppe Marangi et al. · American Journal of Medical Genetics Part A · 2007 · 103 citations

Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi et al. · Journal of Medical Genetics · 2015 · 80 citations

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi et al. · American Journal of Medical Genetics Part A · 2011 · 77 citations

Normal Tcf4, Genetics, Pathology +19