Informazioni aggiuntive

• Pubblicazioni Scientifiche:
  

  Totale pubblicazioni a partire dal 2011: 119

  
  

  2020; : Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation Fusco C., Nardella G., Augello B., Boccafoschi F., Palumbo O., Fusaro L., Notarangelo A., Barbano R., Parrella P., Annicchiarico G., De Meco C., Micale L., Graziano P., Castori M.

  2020; 10(): 44 Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer. Mazza T, Gioffreda D, Fontana A, Biagini T, Carella M, Palumbo O, Maiello E, Bazzocchi F, Andriulli A, Tavano F

  2020; 11(6): A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features. Palumbo O, Palumbo P, Di Muro E, Cinque L, Petracca A, Carella M, Castori M

  2020; 46(1): 74 The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate. Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N

  2020; 11(4): Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing. Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M

  2019; 11(1): 190 The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. Sparago A, Verma A, Patricelli MG, Pignata L, Russo S, Calzari L, De Francesco N, Del Prete R, Palumbo O, Carella M, Mackay DJG, Rezwan FI, Angelini C, Cerrato F, Cubellis MV, Riccio A

  2019; 9(12): In ovo Injection of a Galacto-Oligosaccharide Prebiotic in Broiler Chickens Submitted to Heat-Stress: Impact on Transcriptomic Profile and Plasma Immune Parameters. Bertocchi M, Zampiga M, Luise D, Vitali M, Sirri F, Slawinska A, Tavaniello S, Palumbo O, Archetti I, Maiorano G, Bosi P, Trevisi P

  2019; 9(5): Exploring Differential Transcriptome between Jejunal and Cecal Tissue of Broiler Chickens. Bertocchi M, Sirri F, Palumbo O, Luise D, Maiorano G, Bosi P, Trevisi P

  2019; 10(12): Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M

  2019; (): e13764 microRNA-mRNA network model in patients with achalasia. Palmieri O, Mazza T, Bassotti G, Merla A, Tolone S, Biagini T, Cuttitta A, Bossa F, Martino G, Latiano T, Corritore G, Gioffreda D, Palumbo O, Carella M, Panza A, Andriulli A, Latiano A

  2019; 237(): 63-68 Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes. Tolomeo D, L'Abbate A, Lonoce A, D'Addabbo P, Miccoli MF, Lo Cunsolo C, Iuzzolino P, Palumbo O, Carella M, Racanelli V, Mazza T, Ottaviani E, Martinelli G, Macchia G, Storlazzi CT

  2019; (): e855 Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription. Di Stolfo G, Accadia M, Mastroianno S, Leone MP, Palumbo O, Palumbo P, Potenza D, Maccarone P, Sacco M, Russo A, Carella M

  2019; (): Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies. Visioli A, Giani F, Trivieri N, Pracella R, Miccinilli E, Cariglia MG, Palumbo O, Arleo A, Dezi F, Copetti M, Cajola L, Restelli S, Papa V, Sciuto A, Latiano TP, Carella M, Amadori D, Gallerani G, Ricci R, Alfieri S, Pesole G, Vescovi AL, Binda E

  2019; (): 1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia. Daniele G, L'Abbate A, Turchiano A, Palumbo O, Carella M, Lo Cunsolo C, Iuzzolino P, Lonoce A, Hernández-Sánchez M, Minoia C, Leone P, Hernandez-Rivas JM, Storlazzi CT

  2019; 15(3): e1008075 Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F

  2019; 38(1): 108 Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development. Sarogni P, Palumbo O, Servadio A, Astigiano S, D'Alessio B, Gatti V, Cukrov D, Baldari S, Pallotta MM, Aretini P, Dell'Orletta F, Soddu S, Carella M, Toietta G, Barbieri O, Fontanini G, Musio A

  2019; 53(): 95-99 Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete. Castellana S, Mastroianno S, Palumbo P, Palumbo O, Biagini T, Leone MP, De Luca G, Potenza DR, Amico CM, Mazza T, Russo A, Di Stolfo G, Carella M

  2018; (): Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A

  2018; (): A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C

  2018; 51(5): 809-813 Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role. Di Stolfo G, Palumbo P, Castellana S, Mastroianno S, Biagini T, Palumbo O, Leone MP, De Luca G, Potenza DR, Mazza T, Russo AA, Carella M

  2018; 9(29): 20721-20733 Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion. Muscarella LA, Turchetti D, Fontana A, Baorda F, Palumbo O, la Torre A, de Martino D, Franco R, Losito NS, Repaci A, Pagotto U, Cinque L, Copetti M, Chiofalo MG, Pezzullo L, Graziano P, Scillitani A, Guarnieri V

  2018; 61(5): 248-252 Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders. Palumbo O, Accadia M, Palumbo P, Leone MP, Scorrano A, Palladino T, Stallone R, Bonaglia MC, Carella M

  2018; 208(3): 951-961 The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer. Macchia G, Severgnini M, Purgato S, Tolomeo D, Casciaro H, Cifola I, L'Abbate A, Loverro A, Palumbo O, Carella M, Bianchini L, Perini G, De Bellis G, Mertens F, Rocchi M, Storlazzi CT

  2018; 176(2): 391-398 Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome. Palumbo P, Accadia M, Leone MP, Palladino T, Stallone R, Carella M, Palumbo O

  2018; (): MYC-containing amplicons in acute myeloid leukemia: Genomic structures, evolution, and transcriptional consequences. LAbbate A, Tolomeo D, Cifola I, Severgnini M, Turchiano A, Augello B, Squeo G, D Addabbo P, Traversa D, Daniele G, Lonoce A, Pafundi M, Carella M, Palumbo O, Dolnik A, Muehlematter D, Schoumans J, Van Roy N, De Bellis G, Martinelli G, Merla G, Bullinger L

  2017; 8(): 206 Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion. De Cinque M, Palumbo O, Mazzucco E, Simone A, Palumbo P, Ciavatta R, Maria G, Ferese R, Gambardella S, Angiolillo A, Carella M, Garofalo S

  2017; 8(62): 104913-104927 A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma. Mazzoccoli G, Castellana S, Carella M, Palumbo O, Tiberio C, Fusilli C, Capocefalo D, Biagini T, Mazza T, Muzio LL

  2017; 53(): 86-93 The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants. d'Orsi G, Martino T, Palumbo O, Pascarella MG, Palumbo P, Di Claudio MT, Avolio C, Carella M

  2017; (): MEN1 gene mutation with parathyroid carcinoma: first report of a familial case. Cinque L, Sparaneo A, Salcuni AS, De Martino DG, Battista C, Logoluso F, Palumbo O, Cocchi R, Maiello E, Graziano P, Hendy G, Cole DEC, Scillitani A, Guarnieri V

  2017; 18(1): 83 Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC

  2017; 18(7): Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling. Palmieri O, Creanza TM, Bossa F, Latiano T, Corritore G, Palumbo O, Martino G, Biscaglia G, Scimeca D, Carella M, Ancona N, Andriulli A, Latiano A

  2017; (140)1: Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, Carli D, Peris C, Riccio A, Ferrero GB

  NPJ schizophrenia 2017; 3(): 16 Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients. Nuzzo T, Sacchi S, Errico F, Keller S, Palumbo O, Florio E, Punzo D, Napolitano F, Copetti M, Carella M, Chiariotti L, Bertolino A, Pollegioni L, Usiello A

  2017; (): Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. Fischetto R, Palumbo O, Ortolani F, Palumbo P, Leone MP, Causio FA, Pesce S, Digilio MC, Carella M, Papadia F

  2017; (): Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells. Daniele G, Simonetti G, Fusilli C, Iacobucci I, Lonoce A, Palazzo A, Lomiento M, Mammoli F, Marsano RM, Marasco E, Mantovani V, Quentmeier H, Drexler HG, Ding J, Palumbo O, Carella M, Nadarajah N, Perricone M, Ottaviani E, Baldazzi C, Testoni N, Papayanni

  2017; (): Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing. Leone MP, Palumbo P, Ortore R, Castellana S, Palumbo O, Melchionda S, Palladino T, Stallone R, Mazza T, Cocchi R, Carella M

  2017; (): Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells. Binda E, Visioli A, Giani F, Trivieri N, Palumbo O, Restelli S, Dezi F, Mazza T, Fusilli C, Legnani F, Carella M, Di Meco F, Duggal R, Vescovi AL

  2017; (): TGFbeta and miRNA regulation in familial and sporadic breast cancer. Danza K, De Summa S, Pinto R, Pilato B, Palumbo O, Carella M, Popescu O, Digennaro M, Lacalamita R, Tommasi S

  2016; (): 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. Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M

  Molecular syndromology 2016; 7(5): 282-286 PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature. Palumbo O, Palumbo P, Leone MP, Stallone R, Palladino T, Vendemiale M, Palladino S, Papadia F, Carella M, Fischetto R

  2016; 18(12): 1471-1475 Intraspinal stem cell transplantation for amyotrophic lateral sclerosis: Ready for efficacy clinical trials? Atassi N, Beghi E, Blanquer M, Boulis NM, Cantello R, Caponnetto C, Chiò A, Dunnett SB, Feldman EL, Vescovi A, Mazzini L, attendees of the International Workshop on Progress in Stem Cells Research for ALS/MND.

  Molecular Syndromology 2016; : PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature Palumbo O., Palumbo P., Leone M.P., Stallone R., Palladino T., Vendemiale M., Palladino S., Papadia F., Carella M., FIschetto R:

  2016; 6(): 31549 Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia. Palmieri O, Mazza T, Merla A, Fusilli C, Cuttitta A, Martino G, Latiano T, Corritore G, Bossa F, Palumbo O, Muscarella LA, Carella M, Graziano P, Andriulli A, Latiano A

  2016; (): miR-151-5p, targeting chromatin remodeler SMARCA5, as a marker for the BRCAness phenotype. Tommasi S, Pinto R, Danza K, Pilato B, Palumbo O, Micale L, De Summa S

  2016; (): Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer. Mazzoccoli G, Colangelo T, Panza A, Rubino R, Tiberio C, Palumbo O, Carella M, Trombetta D, Gentile A, Tavano F, Valvano MR, Storlazzi CT, Macchia G, De Cata A, Bisceglia G, Capocefalo D, Colantuoni V, Sabatino L, Piepoli A, Mazza T

  2016; 8(): 69 Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes. Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F

  2016; 35(1): 51 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. Disciglio V, Devecchi A, Palumbo O, Carella M, Penso D, Milione M, Valle G, Pierotti MA, Vitellaro M, Bertario L, Canevari S, Signoroni S, De Cecco L

  2016; 9(): 40 Clinical and molecular characterization of a de novo 19p13.3 microdeletion. Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M

  2016; (): Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer. Mazza T, Mazzoccoli G, Fusilli C, Capocefalo D, Panza A, Biagini T, Castellana S, Gentile A, De Cata A, Palumbo O, Stallone R, Rubino R, Carella M, Piepoli A

  2016; (): 1-4 A rare but recurrent t(8;13)(q24;q14) translocation in B-cell chronic lymphocytic leukaemia causing MYC up-regulation and concomitant loss of PVT1, miR-15/16 and DLEU7. Macchia G, Lonoce A, Venuto S, Macrí E, Palumbo O, Carella M, Lo Cunsolo C, Iuzzolino P, Hernández-Sánchez M, Hernandez-Rivas JM, Storlazzi CT

  64 Congresso Nazionale SINCH Napoli 24_26 Giugno 2016 2015; : Identificazione di un pannello di miRNA associato al ?Fenotipo Aggressivo? ed alla prognosi dei gliomi. Icolaro N., Parrella P., Barbano R., Palumbo O., Pasculli B., Copetti M., Carella M., Fazio V.M., D'Angelo V.

  2015; 14(1): 211 t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. L'Abbate A, Tolomeo D, De Astis F, Lonoce A, Cunsolo CL, Mühlematter D, Schoumans J, Vandenberghe P, Van Hoof A, Palumbo O, Carella M, Mazza T, Storlazzi CT

  2015; 8(): 93 Neurological features of 14q24-q32 interstitial deletion: report of a new case. Nicita F, Di Giacomo M, Palumbo O, Ferri E, Maiorani D, Vigevano F, Carella M, Capuano A

  2015; (): miRNA profiling in serum and tissue samples to assess noninvasive biomarkers for NSCLC clinical outcome. Petriella D, De Summa S, Lacalamita R, Galetta D, Catino A, Logroscino AF, Palumbo O, Carella M, Zito FA, Simone G, Tommasi S

  2015; 781(): 32-36 Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GB, Romano C, d'Adamo AP, Faletra F, Vozzi D

  2015; 8(): 66 De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes. Palumbo O, Fischetto R, Palumbo P, Nicastro F, Papadia F, Zelante L, Carella M

  2015; (): 1-14 Systematic analysis of circadian genes using genome-wide cDNA microarrays in the inflammatory bowel disease transcriptome. Palmieri O, Mazzoccoli G, Bossa F, Maglietta R, Palumbo O, Ancona N, Corritore G, Latiano T, Martino G, Rubino R, Biscaglia G, Scimeca D, Carella M, Annese V, Andriulli A, Latiano A

  2015; (): Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay. Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M

  2015; (): Genome-wide Pathway Analysis Using Gene Expression Data of Colonic Mucosa in Patients with Inflammatory Bowel Disease. Palmieri O, Creanza TM, Bossa F, Palumbo O, Maglietta R, Ancona N, Corritore G, Latiano T, Martino G, Biscaglia G, Scimeca D, De Petris MP, Carella M, Annese V, Andriulli A, Latiano A

  2015; (): A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. De Crescenzo A, Citro V, Freschi A, Sparago A, Palumbo O, Cubellis MV, Carella M, Castelluccio P, Cavaliere ML, Cerrato F, Riccio A

  2015; 8(): 15 Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication. Palumbo O, Palumbo P, Ferri E, Riviello FN, Cloroformio L, Carella M, Di Giacomo MC

  2015; (): 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G

  2014; (): Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms. Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M

  2014; 12(1): 319 Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients. Danza K, De Summa S, Pilato B, Carella M, Palumbo O, Popescu O, Paradiso A, Pinto R, Tommasi S

  2014; (): Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M

  2014; (): Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Khattabi LE, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian

  2014; (): 1-8 MicroRNA expression profiling in male and female familial breast cancer. Pinto R, De Summa S, Danza K, Popescu O, Paradiso A, Micale L, Merla G, Palumbo O, Carella M, Tommasi S

  2014; 9(8): e104080 Evaluation of genome-wide expression profiles of blood and sputum neutrophils in cystic fibrosis patients before and after antibiotic therapy. Conese M, Castellani S, Lepore S, Palumbo O, Manca A, Santostasi T, Polizzi AM, Copetti M, Di Gioia S, Casavola V, Guerra L, Diana A, Montemurro P, Mariggiò MA, Gallo C, Maffione AB, Carella M

  2014; 164A(3): 828-33 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. Palumbo O, Fichera M, Palumbo P, Rizzo R, Mazzolla E, Cocuzza DM, Carella M, Mattina T

  2014; 538(2): 373-8 Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. Palumbo P, Antona V, Palumbo O, Piccione M, Nardello R, Fontana A, Carella M, Corsello G

  2014; 88(2): 345-57 Rhodobacter sphaeroides adaptation to high concentrations of cobalt ions requires energetic metabolism changes. Volpicella M, Costanza A, Palumbo O, Italiano F, Claudia L, Placido A, Picardi E, Carella M, Trotta M, Ceci LR

  2014; (): MiR-578 and miR-573 as potential players in BRCA-related breast cancer angiogenesis. Danza K, De Summa S, Pinto R, Pilato B, Palumbo O, Merla G, Simone G, Tommasi S

  2014; (): Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP

  2014; 9(10): e108950 A MiRNA Signature for Defining Aggressive Phenotype and Prognosis in Gliomas. Barbano R, Palumbo O, Pasculli B, Galasso M, Volinia S, D'Angelo V, Icolaro N, Coco M, Dimitri L, Graziano P, Copetti M, Valori VM, Maiello E, Carella M, Fazio VM, Parrella P

  2014; (): Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer. L'Abbate A, Macchia G, D'Addabbo P, Lonoce A, Tolomeo D, Trombetta D, Kok K, Bartenhagen C, Whelan CW, Palumbo O, Severgnini M, Cifola I, Dugas M, Carella M, Bellis GD, Rocchi M, Carbone L, Storlazzi CT

  2013; (): Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme. Notarangelo A, Trombetta D, D'Angelo V., Parrella P, Palumbo O, Storlazzi CT, Impera L, Muscarella LA, La Torre A, Affuso A, Fazio VM, Carella M, Zelante L

  2013; 8(3): e57892 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. Perrini S, Ficarella R, Picardi E, Cignarelli A, Barbaro M, Nigro P, Peschechera A, Palumbo O, Carella M, De Fazio M, Natalicchio A, Laviola L, Pesole G, Giorgino F

  2013; 8(10): e78452 Genome-wide analysis of differentially expressed genes and splicing isoforms in clear cell renal cell carcinoma. Valletti A, Gigante M, Palumbo O, Carella M, Divella C, Sbisà E, Tullo A, Picardi E, D'Erchia AM, Battaglia M, Gesualdo L, Pesole G, Ranieri E

  2013; 164(1): 182-5 Giant breast tumors in a patient with Beckwith-Wiedemann syndrome. Cappuccio G, De Crescenzo A, Ciancia G, Canta L, Moio M, Mataro I, Varone V, Pettinato G, Palumbo O, Carella M, Riccio A, Brunetti-Pierri N

  MOLECULAR SYNDROMOLOGY 2013; : 1-8 A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome Palumbo O., Mattina T., Palumbo P., Carella M., Perrotta C.S.

  2013; 14(1): S161 P1* A MIRNA SIGNATURE FOR DEFINING AGGRESSIVE PHENOTYPE AND PROGNOSIS IN GLIOMAS Pasculli B., Barbano R., Palumbo O., Galasso M., Volinia S., D'Angelo V., Coco M., Dimitri L., Copetti M., Valori V.M., Maiello E., Carella M., Fazio V.M., Parrella P.

  Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P280 Microdeletion of chromosome 12Q24.31 in a girl with intellectual disabilities, overgrowth and facial dysmorphisms Palumbo O., Palumbo P., Delvecchio M., Palladino T., Stallone R., Zelante L., Carella M.

  Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P279 Raro caso di sincrona insorgenza di carcinoma delle paratiroidi e delle vie biliari extraepatiche (coledoco): analisi di CNV rivela nuovi possibili geni coinvolti nella tumorigenesi delle due diverse patologie Palumbo O., Salcuni A.S., Clemente C., Caruso N., Battista C., Di Candia L. , Bisceglia M., Maiello E., Scillitani A., Guarnieri V.

  Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P276 Clinical and molecular description of a patient with a de novo 6Q16.1Q16.2 microdeletion: three candidate genes for the observed phenotype Palumbo P., Palumbo O., Palladino T., Stallone R., Zelante L., Carella M.

  Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P271 TBR1 is the candidate gene for intellectual disabilities in the 2Q24.2 interstitial deletion patients Palumbo O., Fichera M., Palumbo P., Rizzo R., Mazzolla E., Cocuzza D.M., Carella M., Mattina T.

  2013; 22(1): 64-70 Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G

  2013; 2013, 51 (5); International Congress 16-18 maggio, Lucerna: 36 Description of a further case of homozygoute variegate porphyria Savino M, Gallo AP, Carella M, Miroballo M, Palumbo O, Garrubba M, Cappucci G, Aucella F, Di Mauro L, Guida LL

  XV Congresso SIGU 2012; Sorrento 21/24 novembre 2012: Mental retardation in a rare homozygous variegate porphyria Savino M, Cappucci G, Carella M, Miroballo M, Palumbo O, Aucella F, Di Mauro L, Guida CC

  2012; 5(1): 1 A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report. Palumbo O, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M

  2012; (): Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y

  2012; (): 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination. Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M

  2012; 513(1): 209-13 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. Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M

  2012; 55(2): 120-3 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. Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT

  2012; 55(12): 747-52 Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation. Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L

  2012; 55(8-9): 466-71 A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E

  2012; 158A(12): 3182-9 An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review. Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M

  2012; 12(): 608 Molecular pathways undergoing dramatic transcriptomic changes during tumor development in the human colon. Maglietta R, Liuzzi VC, Cattaneo E, Laczko E, Piepoli A, Panza A, Carella M, Palumbo O, Staiano T, Buffoli F, Andriulli A, Marra G, Ancona N

  2012; 13 Suppl 4(): S21 BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments. Consiglio A, Carella M, De Caro G, Delle Foglie G, Giovannelli C, Grillo G, Ianigro M, Licciulli F, Palumbo O, Piepoli A, Ranieri E, Liuni S

  2012; 66(3): 175-9 Altered expression of the clock gene machinery in kidney cancer patients. Mazzoccoli G, Piepoli A, Carella M, Panza A, Pazienza V, Benegiamo G, Palumbo O, Ranieri E

  2012; 7(3): e33663 Mirna expression profiles identify drivers in colorectal and pancreatic cancers. Piepoli A, Tavano F, Copetti M, Mazza T, Palumbo O, Panza A, di Mola FF, Pazienza V, Mazzoccoli G, Biscaglia G, Gentile A, Mastrodonato N, Carella M, Pellegrini F, di Sebastiano P, Andriulli A

  Molecular syndromology 2011; 2(1): 35-44 22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review. Garavelli L, Rosato S, Wischmeijer A, Gelmini C, Esposito A, Mazzanti L, Franchi F, De Crescenzo A, Palumbo O, Carella M, Riccio A

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 161 Due casi di sindrome da microdelezione 17q21.31 Cassisi G, Praticò E, Pitta R, Palumbo O, Ferrara A, Stallone R, Carella M, Mattina T

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 144 Un caso di sindrome da duplicazione 16p13 con falangi distali di forma conica Di Dio L, Pavone P, Pulvirenti R, Stallone R, Palumbo O, Carella M, Mattina T

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 406 Un raro caso di sindrome di Feingold familiare Piccione M, Antona V, Carella M, Palumbo O, Palumbo P, Corsello G

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 129 Microduplicazione della regione 4p16.3: caso clinico Di Giacomo MC, Ferri E, Riviello F, Chiacchio R, Carella M, Palumbo O, Zelante L

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 093 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 Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 084 8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of charge syndrome Palumbo O, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 083 Identification of a FOXP1 deletion in a patient with autism, developmental verbal dyspraxia (DVD) and deficit of motor cordination Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 061 Fenotitpo Silver Russell in paziente con duplicazione 11p13 Perrotta CS, Mattina T, Di Dio L, Carella M, Palumbo P, Palumbo O

  2011; (): A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Munnich A

  XIV Congresso Nazionale della Società  Italiana di Genetica Umana 2011; : Beat: bioinformatics exon array tool to store, analyze and visualize affymetrix gene chip human exon array data from disease experiments A. Consiglio, M. Carella, G. De Caro, G. Delle Foglie, C. Giovannelli, G. Grillo, M. Ianigro, F. Licciulli, O. Palumbo, A. Piepoli, E. Ranieri, S. Liuni

  2011; : Abstract E25 - XIII Congresso Nazionale di Oncologia Medica, Bologna 2011 Piepoli A et al.

  2011; 28(10): 841-51 Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients. Mazzoccoli G, Panza A, Valvano MR, Palumbo O, Carella M, Pazienza V, Biscaglia G, Tavano F, Di Sebastiano P, Andriulli A, Piepoli A

  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. Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB

  2011; (): Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N

  2011; : MicroRNA and Colon-Cancer: The Circadian Clock Connection Ada Piepoli, Anna Panza, Gianluigi Mazzoccoli, Massimiliano Copetti, Orazio Palumbo, Massimo Carella, Annamaria Gentile, Valerio Pazienza, Francesca Tavano, Nicola Mastrodonato, Giuseppe Biscaglia, Fabio Pellegrini, Pierluigi Di Sebastiano, Angelo Andriul

  2011; AGA Abstracts: S-272 Dissection of the Crohn's Disease Transcriptome of 71 Loci Using Genome-Wide Microarrays Orazio Palmieri, Anna Latiano, Rosalia Maglietta, Orazio Palumbo, Giuseppe Corritore, Tiziana Latiano, Giuseppina Martino, Massimo Carella, Nicola Ancona, Fabrizio Bossa, Angelo Andriulli, Vito Annese

  2011; : S161 Whole-transcript human gene expression pathway analysis in Crohn's disease O. Palmieri, A. Latiano, R. Maglietta, B. Fabrizio, D. Scimeca, G. Biscaglia, O. Palumbo, M. Carella, N. Ancona, A. Andriulli, V. Annese

  2011; (): Dissecting the mucosal expression of human leucine-rich repeat family genes in inflammatory bowel disease patients. Palmieri O, Latiano A, Maglietta R, Palumbo O, Carella M, Ancona N, Bossa F, Andriulli A, Annese V