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List of works by Orazio Palumbo

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Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

scientific article
Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure

scientific article published on 14 July 2010
Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients.

scientific article published in December 2011
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

scientific article published on 14 September 2011
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

scientific article published on 15 December 2014
A miRNA signature for defining aggressive phenotype and prognosis in gliomas

scientific article
Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer

scientific article
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

scientific article published on 17 December 2011
Differences in gene expression and cytokine release profiles highlight the heterogeneity of distinct subsets of adipose tissue-derived stem cells in the subcutaneous and visceral adipose tissue in humans

scientific article
Altered expression of the clock gene machinery in kidney cancer patients

article
TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

article
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

scientific article published on June 12, 2013
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

scientific article published on 5 November 2014
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

scientific article published in January 2010
Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells

scientific article published on 23 December 2016
Systematic analysis of circadian genes using genome-wide cDNA microarrays in the inflammatory bowel disease transcriptome

scientific article published on 14 July 2015
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

scientific article published on 20 June 2017
MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

scientific article published on 22 February 2018
MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis

scientific article
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

scientific article published on December 14, 2012
On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancers

scientific article published on 29 September 2009
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

scientific article published on 18 September 2014
Genome-wide analysis of differentially expressed genes and splicing isoforms in clear cell renal cell carcinoma

scientific article
miRNA profiling in serum and tissue samples to assess noninvasive biomarkers for NSCLC clinical outcome

scientific article published on 13 November 2015
miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype

scientific article published on 30 June 2016
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

scientific article
Evaluation of genome-wide expression profiles of blood and sputum neutrophils in cystic fibrosis patients before and after antibiotic therapy

scientific article
Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients

scientific article
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies

scientific article published on 01 July 2010
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014
Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation

scientific article published on September 29, 2012
8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature

scientific article published on November 7, 2012
MicroRNA expression profiling in male and female familial breast cancer.

scientific article
The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer.

scientific article published on 26 December 2017
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

scientific article published on 24 September 2018
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

scientific article published on 29 May 2012
Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients

scientific article
Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

scientific article published on 01 March 2019
Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling

scientific article published on 20 July 2017
Rhodobacter sphaeroides adaptation to high concentrations of cobalt ions requires energetic metabolism changes

scientific article
Genome-wide Pathway Analysis Using Gene Expression Data of Colonic Mucosa in Patients with Inflammatory Bowel Disease.

scientific article
BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments

scientific article
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

scientific article published on 16 June 2016
Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme

scientific article published on 23 December 2013
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

scientific article published on 20 December 2017
Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes

scientific article
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

scientific article published on 08 November 2013
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

scientific article published on 11 December 2019
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.

scientific article published on 16 December 2015
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome

scientific article published on 28 November 2017

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