Lista de obras - Orazio Palumbo - Dominio Público Uruguay

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 7 de noviembre de 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

A miRNA signature for defining aggressive phenotype and prognosis in gliomas

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2021

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2022

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

artículo científico publicado en 2007

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.

artículo científico publicado en 2014

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation ⬇️

artículo científico publicado el 29 de septiembre de 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

MicroRNA expression profiling in male and female familial breast cancer.

artículo científico publicado en 2014

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado el 14 de diciembre de 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Lista de obras de 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.

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation ⬇️

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

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

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