Search filters

List of works by Antonella Sangalli

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

scientific article

A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy

scientific article published on 7 June 2017

Association of promoter polymorphism -765G>C in the PTGS2 gene with malignant melanoma in Italian patients and its correlation to gene expression in dermal fibroblasts.

scientific article published in October 2014

Characterization and functional analysis of cis-acting elements of the human farnesyl diphosphate synthetase (FDPS) gene 5' flanking region.

scientific article published on 12 December 2008

EZH2 Polymorphisms in melanoma skin cancer risk

scientific article published on 03 August 2020

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families

article

Melanoma risk alleles are associated with downregulation of the MTAP gene and hypermethylation of a CpG island upstream of the gene in dermal fibroblasts

article

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine ?1(I) 901 substitution in a type-I collagen gene

article

Osteogenesis imprefecta and type-I collagen mutations. A lethal variant caused by a Gly910Ala substitution in the alpha1(I) chain

scientific article published on 01 February 1993

RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3

scientific article published on 20 November 2018

Sex-specific effect of RNASEL rs486907 and miR-146a rs2910164 polymorphisms' interaction as a susceptibility factor for melanoma skin cancer.

scientific article

The genetic background of osteoporosis in cystic fibrosis: Association analysis with polymorphic markers in four candidate genes

article

Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen.

scientific article published on 3 October 2008

Paulina is supported by:

About Paulina

Help