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Journal of Human Genetics|March 2, 2012
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elementsPaola Fortugno, Fabiana Grosso, Giovanna Zambruno, et al.
RNA (New York, N.Y.)|June 14, 2018
Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicingGiulia Pianigiani, Danilo Licastro, Paola Fortugno, et al.
Human Mutation|February 10, 2015
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory ElementAndrea Dal Mas, Paola Fortugno, Irving Donadon, et al.
International Journal of Molecular Sciences|December 23, 2023
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in PhenylketonuriaFrancesca Ubaldi, Claudia Frangella, Veronica Volpini, et al.
Molecular Cancer|April 24, 2010
Intracellular targets of RGDS peptide in melanoma cellsMaria Simona Aguzzi, Paola Fortugno, Claudia Giampietri, et al.
The Journal of Dermatology|April 29, 2015
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work reviewLiliana Guerra, Paola Fortugno, Anna Sinistro, et al.
Cell Cycle (Georgetown, Tex.)|October 16, 2009
Downregulation of DeltaNp63alpha in keratinocytes by p14ARF-mediated SUMO-conjugation and degradationMaria Vivo, Antonella Di Costanzo, Paola Fortugno, et al.
Acta Dermato-Venereologica|February 25, 2015
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton SyndromeLiliana Guerra, Paola Fortugno, Cristina Pedicelli, et al.
Experimental Dermatology|February 6, 2015
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytesManuela Lanzafame, Elena Botta, Massimo Teson, et al.
Pediatric Dermatology|January 22, 2013
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5Andrea Diociaiuti, Daniele Castiglia, Paola Fortugno, et al.
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