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Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

Haematologica (Roma), 2020-12, Vol.105 (12), p.2883

2020

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Endoplasmic Reticulum stress reduces COPII vesicle formation and modifies Sec23a cycling at ERESs

FEBS letters, 2013-10, Vol.587 (19), p.3261-3266

2013

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Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma

PloS one, 2013-10, Vol.8 (10), p.e76810-e76810

2013

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Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Medical sciences (Basel), 2019-02, Vol.7 (3), p.40

2019

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Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

American journal of hematology, 2018-05, Vol.93 (5), p.672-682

2018

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Peculiar footprints in a child with agenesis of corpus callosum

Journal of paediatrics and child health, 2022-12

2022

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Fine mapping of 2q35 high‐risk neuroblastoma locus reveals independent functional risk variants and suggests full‐length BARD1 as tumor‐suppressor

International journal of cancer, 2018-12, Vol.143 (11), p.2828-2837

2018

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Peculiar footprints in a child with agenesis of corpus callosum

Journal of paediatrics and child health, 2021-03, Vol.57 (3), p.450-451

2021

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Two cases of 16q12.1q21 deletions and refinement of the critical region

European journal of medical genetics, 2020-06, Vol.63 (6), p.103878, Article 103878

2020

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Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

Clinical genetics, 2019-10, Vol.96 (4), p.359-365

2019

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Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression

Oncotarget, 2016-04, Vol.7 (16), p.21840-21852

2016

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An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma

Journal of translational medicine, 2016-05, Vol.14 (1), p.142-142, Article 142

2016

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M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA

Schizophrenia bulletin, 2020-05, Vol.46 (Supplement_1), p.S201-S201

2020

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The Pro12Ala polymorphism of PPARγ2 modulates beta cell function and failure to oral glucose‐lowering drugs in patients with type 2 diabetes

Diabetes/metabolism research and reviews, 2021-03, Vol.37 (3), p.e3392-n/a

2021

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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Clinical genetics, 2020-06, Vol.97 (6), p.940-942

2020

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The evolving role of monoclonal antibodies in the treatment of patients with advanced renal cell carcinoma: a systematic review

Expert opinion on biological therapy, 2016-11, Vol.16 (11), p.1387-1401

2016

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Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population

Journal of cardiovascular translational research, 2017-12, Vol.10 (5-6), p.455-458

2017

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Incidence of fatigue and low-dose corticosteroid use in prostate cancer patients receiving systemic treatment: a meta-analysis of randomized controlled trials

World journal of urology, 2019-06, Vol.37 (6), p.1049-1059

2019

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Erratum to: Association Study between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population

Journal of cardiovascular translational research, 2017-12, Vol.10 (5-6), p.459-459

2017

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A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma

Oncotarget, 2016-08, Vol.7 (31), p.49246-49258

2016

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Impact of Interleukin-6 -174 GC Gene Promoter Polymorphism on Neuroblastoma

PloS one, 2013-10, Vol.8 (10), p.e76810

2013

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Impact of Interleukin-6 -174 G>C Gene Promoter Polymorphism on Neuroblastoma: e76810

PloS one, 2013-10, Vol.8 (10)

2013

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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Clinical genetics, 2020, Vol.97 (6), p.940-942

2020

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Evaluating programmed death‐ligand 1 (PD‐L1) in head and neck squamous cell carcinoma: concordance between the 22C3 PharmDx assay and the SP263 assay on whole sections from a multicentre study

Histopathology, 2022-01, Vol.80 (2), p.397-406

2022

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Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus

Endoplasmic Reticulum stress reduces COPII vesicle formation and modifies Sec23a cycling at ERESs

Impact of interleukin-6 -174 G>C gene promoter polymorphism on neuroblastoma

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

Peculiar footprints in a child with agenesis of corpus callosum

Fine mapping of 2q35 high‐risk neuroblastoma locus reveals independent functional risk variants and suggests full‐length BARD1 as tumor‐suppressor

Peculiar footprints in a child with agenesis of corpus callosum

Two cases of 16q12.1q21 deletions and refinement of the critical region

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression

An 18 gene expression-based score classifier predicts the clinical outcome in stage 4 neuroblastoma

M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA

The Pro12Ala polymorphism of PPARγ2 modulates beta cell function and failure to oral glucose‐lowering drugs in patients with type 2 diabetes

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

The evolving role of monoclonal antibodies in the treatment of patients with advanced renal cell carcinoma: a systematic review

Association Study Between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population

Incidence of fatigue and low-dose corticosteroid use in prostate cancer patients receiving systemic treatment: a meta-analysis of randomized controlled trials

Erratum to: Association Study between Coronary Artery Disease and rs1333049 Polymorphism at 9p21.3 Locus in Italian Population

A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma

Impact of Interleukin-6 -174 GC Gene Promoter Polymorphism on Neuroblastoma

Impact of Interleukin-6 -174 G>C Gene Promoter Polymorphism on Neuroblastoma: e76810

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

Evaluating programmed death‐ligand 1 (PD‐L1) in head and neck squamous cell carcinoma: concordance between the 22C3 PharmDx assay and the SP263 assay on whole sections from a multicentre study

The probability of galaxy–galaxy strong lensing events in hydrodynamical simulations of galaxy clusters

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