List of works - Orazio Palumbo

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia

scientific article published on 15 March 2019

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

scientific article published on 15 December 2014

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

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

scientific article published on 26 June 2020

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

A miRNA signature for defining aggressive phenotype and prognosis in gliomas

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

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

scientific article published on 5 September 2017

A rare but recurrent t(8;13)(q24;q14) translocation in B-cell chronic lymphocytic leukaemia causingMYCup-regulation and concomitant loss ofPVT1,miR-15/16andDLEU7

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 splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

scientific article

Altered expression of the clock gene machinery in kidney cancer patients

article

Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer.

scientific article published on 14 June 2016

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

scientific article published on 20 June 2017

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

scientific article

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

scientific article published on 16 September 2020

Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors

scientific article published on 18 November 2020

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer

scientific article published on 04 February 2020

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

scientific article

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

scientific article published on 28 November 2017

Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients.

scientific article published in December 2011

Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients

scientific article

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

scientific article published on 12 June 2019

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

scientific article published on 01 July 2010

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

scientific article

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

scientific article published on 20 December 2016

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

scientific article published on 6 December 2017

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

Dissecting the mucosal expression of human leucine-rich repeat family genes in inflammatory bowel disease patients

article

Early-Onset Diabetes as Risk Factor for Pancreatic Cancer: miRNA Expression Profiling in Plasma Uncovers a Role for miR-20b-5p, miR-29a, and miR-18a-5p in Diabetes of Recent Diagnosis

scientific article published on 11 September 2020

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

scientific article

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

scientific article published on 13 September 2017

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

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

scientific article

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

scientific article published on 18 September 2014

Exploring Differential Transcriptome between Jejunal and Cecal Tissue of Broiler Chickens.

scientific article

Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling

scientific article published on 20 July 2017

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

scientific article published on 14 July 2010

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

scientific article published on 11 August 2016

Genome-Wide Gene Expression Analysis of Mtb-Infected DC Highlights the Rapamycin-Driven Modulation of Regulatory Cytokines via the mTOR/GSK-3β Axis

scientific article published on 16 April 2021

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

scientific article

Genome-wide analysis of differentially expressed genes and splicing isoforms in clear cell renal cell carcinoma

scientific article

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

scientific article published on 27 March 2019

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

scientific article

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

scientific article published on 08 November 2013

Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy

scientific article published on 12 April 2022

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

In ovo Injection of a Galacto-Oligosaccharide Prebiotic in Broiler Chickens Submitted to Heat-Stress: Impact on Transcriptomic Profile and Plasma Immune Parameters

scientific article published on 02 December 2019

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

scientific article

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

scientific article

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

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.

scientific article published on 2 November 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

MicroRNA expression profiling in male and female familial breast cancer.

scientific article

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

scientific article

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

scientific article

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

scientific article

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

scientific article published on 25 November 2019

On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancers

scientific article published on 29 September 2009

Ouabain and Digoxin Activate the Proteasome and the Degradation of the ERα in Cells Modeling Primary and Metastatic Breast Cancer

scientific article published on 19 December 2020

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

scientific article published on 01 March 2019

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

scientific article published on 20 July 2020

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

Rhodobacter sphaeroides adaptation to high concentrations of cobalt ions requires energetic metabolism changes

scientific article

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

scientific article published on 20 November 2018

Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies

scientific article published on 02 May 2019

Systematic analysis of circadian genes using genome-wide cDNA microarrays in the inflammatory bowel disease transcriptome.

scientific article published on 14 July 2015

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

article

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

scientific article published on 5 November 2014

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

scientific article published on 18 December 2020

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

scientific article published on 26 December 2017

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

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

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

Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells

scientific article published on 05 November 2020

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

scientific article published on 16 June 2016

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

scientific article published on 07 June 2016

Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells

scientific article published on 23 December 2016

miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype

scientific article published on 30 June 2016

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

scientific article published on 13 November 2015

microRNA-mRNA network model in patients with achalasia

scientific article published on 26 November 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

List of works by Orazio Palumbo

1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

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

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

A miRNA signature for defining aggressive phenotype and prognosis in gliomas

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

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

A rare but recurrent t(8;13)(q24;q14) translocation in B-cell chronic lymphocytic leukaemia causingMYCup-regulation and concomitant loss ofPVT1,miR-15/16andDLEU7

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

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Altered expression of the clock gene machinery in kidney cancer patients

Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer.

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

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

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients.

Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

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

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

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

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

Dissecting the mucosal expression of human leucine-rich repeat family genes in inflammatory bowel disease patients

Early-Onset Diabetes as Risk Factor for Pancreatic Cancer: miRNA Expression Profiling in Plasma Uncovers a Role for miR-20b-5p, miR-29a, and miR-18a-5p in Diabetes of Recent Diagnosis

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme

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

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Exploring Differential Transcriptome between Jejunal and Cecal Tissue of Broiler Chickens.

Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling

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

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

Genome-Wide Gene Expression Analysis of Mtb-Infected DC Highlights the Rapamycin-Driven Modulation of Regulatory Cytokines <i>via</i> the mTOR/GSK-3β Axis

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

Genome-wide analysis of differentially expressed genes and splicing isoforms in clear cell renal cell carcinoma

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

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

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Growth factor independence underpins a paroxysmal, aggressive Wnt5a<sup>High</sup>/EphA2<sup>Low</sup> phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria

In ovo Injection of a Galacto-Oligosaccharide Prebiotic in Broiler Chickens Submitted to Heat-Stress: Impact on Transcriptomic Profile and Plasma Immune Parameters

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

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

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case.

MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.

MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis

MicroRNA expression profiling in male and female familial breast cancer.

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

Neurological features of 14q24-q32 interstitial deletion: report of a new case.

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancers

Ouabain and Digoxin Activate the Proteasome and the Degradation of the ERα in Cells Modeling Primary and Metastatic Breast Cancer

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

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

Rhodobacter sphaeroides adaptation to high concentrations of cobalt ions requires energetic metabolism changes

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies

Systematic analysis of circadian genes using genome-wide cDNA microarrays in the inflammatory bowel disease transcriptome.

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

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

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

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

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

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

Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells

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