Anna Maria Nardone

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

Malte Spielmann, Francesco Brancati, Peter Krawitz et al. · The American Journal of Human Genetics · 2012 · 124 citations · Full text

Life Sciences, Developmental Biology, Genetics +16

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

Ilaria Filesi, F Gullotta, Giovanna Lattanzi et al. · Physiological Genomics · 2005 · 123 citations

Life Sciences, Genetics, Molecular Genetics +17

Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

Francesca Lombardi, F Gullotta, Marta Columbaro et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 62 citations

Life Sciences, Genetics, Molecular Genetics +14

In vitrocorrection of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique

Federica Sangiuolo, Emanuela M. Bruscia, Annalucia Serafino et al. · BMC Medical Genetics · 2002 · 41 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +13

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Maria Rosaria D’Apice, Antonio Novelli, Alessandra di Masi et al. · BMC Medical Genetics · 2015 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17