Mario Bengala

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

Francesca Amati, Emanuela Conti, Antonio Novelli et al. · European Journal of Human Genetics · 1999 · 133 citations · Full text

Medicine, Cardiology, Pathophysiology +3

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 133 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Monica Marini, Renata Bocciardi, Stefania Gimelli et al. · Genetics in Medicine · 2010 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Maria Rosaria D’Apice, Stefano Gambardella, Mario Bengala et al. · BMC Medical Genetics · 2004 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

Michele Ciavarella, Michelina Coco, Filomena Baorda et al. · Gene · 2012 · 29 citations

Life Sciences, Genetics, Molecular Genetics +9