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List of works by Davide Martorana

A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

scientific article published on 09 July 2019

A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children

scientific article published on 01 January 2015

Alterations of type IV collagen alpha chains in patients with chronic acquired glomerulopathies: mRNA levels, protein expression and urinary loss.

scientific article published on 15 February 2007

Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody-associated vasculitis.

scientific article

Changes in interleukin-6 and IGF system and their relationships in placenta and cord blood in newborns with fetal growth restriction compared with controls.

scientific article published in October 2006

Chronic periaortitis and HLA-DRB1*03: another clue to an autoimmune origin

scientific article published on 01 February 2006

Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas.

scientific article

Combined genetic variants of human cytomegalovirus envelope glycoproteins as congenital infection markers

scientific article

Cryptic 13q34 and 4q35.2 Deletions in an Italian Family

scientific article published on 09 December 2015

Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV

scientific article published on 01 August 2009

Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes

scientific article

Eotaxin-3 in Churg-Strauss syndrome: a clinical and immunogenetic study

scientific article published on 25 January 2011

Eotaxin/CCL11 in idiopathic retroperitoneal fibrosis

scientific article published on 01 October 2012

F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study.

scientific article published on 27 April 2017

FCGR2A single nucleotide polymorphism confers susceptibility to childhood-onset idiopathic nephrotic syndrome

scientific article published on 15 November 2017

Fcγ-receptor 3B (FCGR3B) copy number variations in patients with eosinophilic granulomatosis with polyangiitis.

scientific article published on 9 December 2015

Genetic Susceptibility to ANCA-Associated Vasculitis: State of the Art.

scientific article

Genetic aspects of anti-neutrophil cytoplasmic antibody-associated vasculitis.

scientific article

Genetically distinct subsets within ANCA-associated vasculitis

scientific journal article

Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.

scientific article published on 19 April 2016

HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome

scientific article published on 01 September 2007

High frequency of cultivable human subgroup F adenoviruses in stool samples from a paediatric population admitted to hospital with acute gastroenteritis

scientific article published on 21 March 2014

Influence of APOE status on lexical-semantic skills in mild cognitive impairment

scientific article published on May 2011

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

scientific article published on 03 April 2017

PTPN22 R620W polymorphism in the ANCA-associated vasculitides

scientific article published on 11 January 2012

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

scientific article published on 29 September 2017

Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

scientific article published on 05 November 2020

Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome

scientific article published on 05 June 2013

Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.

scientific article

TLR-4 and VEGF polymorphisms in chronic periaortitis

scientific article

The molecular and functional characterization of clonally expanded CD8+ TCR BV T cells in eosinophilic granulomatosis with polyangiitis (EGPA).

scientific article published on 13 March 2014

The new tumor-suppressor gene inhibitor of growth family member 4 (ING4) regulates the production of proangiogenic molecules by myeloma cells and suppresses hypoxia-inducible factor-1 alpha (HIF-1alpha) activity: involvement in myeloma-induced angio

scientific article published on 11 September 2007

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