Adriano Angioni
Rome, Italy
Last Updated: 09/26/2026
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Found 32 publications
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Journal: Dermatology (Basel, Switzerland)
Published: March 04, 2023
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.
Journal: Acta dermato-venereologica
Published: March 06, 2019
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Journal: Molecular medicine (Cambridge, Mass.)
Published: June 13, 2018
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
Journal: Experimental dermatology
Published: April 12, 2018
Clinical expression of cystic fibrosis in a large cohort of Italian siblings.
Journal: BMC pulmonary medicine
Published: November 21, 2017
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.
Journal: Journal of autism and developmental disorders
Published: October 14, 2017
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: October 07, 2017
NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2.
Journal: Immunology letters
Published: October 17, 2016
Congenital heart defects in molecularly proven Kabuki syndrome patients.
Journal: American journal of medical genetics. Part A
Published: September 03, 2016
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Journal: Journal of medical genetics
Published: April 26, 2016
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Journal: Molecular medicine (Cambridge, Mass.)
Published: January 08, 2016
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.
Journal: Clinical and experimental dermatology
Published: September 16, 2015
Last Updated: 09/26/2026