List of works - Alexandros Onoufriadis

A clinician's guide to omics resources in dermatology

scientific article published on 01 February 2022

A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics

scientific article published on 06 July 2020

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations

scientific article published on 13 August 2020

Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities

scientific article published on 25 March 2020

Blaschko-linear lichen planus: Clinicopathological and genetic analysis

scientific article published on 12 August 2020

Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

scientific article published on 04 September 2019

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

scientific article published on 01 February 2019

Ectodermal dysplasia-skin fragility syndrome: two new cases and review of this desmosomal genodermatosis

scientific article published on 05 April 2020

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

scientific article published on 10 April 2020

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

scientific article published on 08 March 2019

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

scientific article published on 26 August 2019

Germline mutation in PDGFRB may be implicated in hereditary progressive mucinous histiocytosis

scientific article published on 10 December 2020

Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

article

Metabolic perturbations in fibrosis disease

scientific article published on 27 August 2021

Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

scientific article published on 25 February 2020

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

scientific article

Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL

scientific article published on 18 September 2019

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

scientific article published on 8 September 2017

Prevalence, pathophysiology and management of itch in epidermolysis bullosa

scientific article published on 18 August 2020

Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome

scientific article published on 25 March 2019

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

scientific article published on 19 June 2019

Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals

scientific article published on 02 June 2018

Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia

scientific article published on 31 July 2017

List of works by Alexandros Onoufriadis