Lista de obras - Davide Martorana - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes

artículo científico publicado en 2017

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

scientific article published on 25 January 2011

Eotaxin/CCL11 in idiopathic retroperitoneal fibrosis

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Genetically distinct subsets within ANCA-associated vasculitis

scientific journal article

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 2017

PTPN22 R620W polymorphism in the ANCA-associated vasculitides

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2010

TLR-4 and VEGF polymorphisms in chronic periaortitis

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2007

Lista de obras de Davide Martorana

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

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

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

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

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

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

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

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

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

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

Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes

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

Eotaxin/CCL11 in idiopathic retroperitoneal fibrosis

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

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

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

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

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

Genetically distinct subsets within ANCA-associated vasculitis

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

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

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

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

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

PTPN22 R620W polymorphism in the ANCA-associated vasculitides

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

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

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

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

TLR-4 and VEGF polymorphisms in chronic periaortitis

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

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