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Authors whose works are in public domain in at least one jurisdiction

List of works by Dario Degiorgio

A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.

scientific article published on 3 March 2009

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

scientific article published in December 2010

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

scientific article published on September 2015

Amniotic mesenchymal stem cells: a new source for hepatocyte-like cells and induction of CFTR expression by coculture with cystic fibrosis airway epithelial cells

scientific article

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

scientific article published on 20 May 2009

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

scientific article published in April 2009

Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations

scientific article published in January 2011

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

scientific article

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

scientific article

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

scientific article published on 29 August 2007

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

scientific article published on 07 September 2016

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction

scientific article

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