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Items: 1 to 50 of 99

1.

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.

J Electrocardiol. 2018 Sep - Oct;51(5):809-813. doi: 10.1016/j.jelectrocard.2018.06.005. Epub 2018 Jun 9.

PMID:
30177317
2.

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.

Hum Mutat. 2018 Aug 30. doi: 10.1002/humu.23629. [Epub ahead of print]

PMID:
30161288
3.

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

L'Abbate 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, Haferlach C, Storlazzi CT.

Leukemia. 2018 Oct;32(10):2304. doi: 10.1038/s41375-018-0177-y.

PMID:
29985446
4.

New Experimental Evidences Regarding Conformational Equilibrium in Ammonium-Bis(trifluoromethanesulfonyl)imide Ionic Liquids.

Gontrani L, Trequattrini F, Palumbo O, Bencivenni L, Paolone A.

Chemphyschem. 2018 Jul 4. doi: 10.1002/cphc.201800442. [Epub ahead of print]

PMID:
29972630
5.

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.

Oncotarget. 2018 Apr 17;9(29):20721-20733. doi: 10.18632/oncotarget.25067. eCollection 2018 Apr 17.

6.

The effect of ether-functionalisation in ionic liquids analysed by DFT calculation, infrared spectra, and Kamlet-Taft parameters.

Tsurumaki A, Trequattrini F, Palumbo O, Panero S, Paolone A, Navarra MA.

Phys Chem Chem Phys. 2018 Mar 28;20(12):7989-7997. doi: 10.1039/c7cp08134k. Epub 2018 Mar 7.

PMID:
29512671
7.

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

L Abbate 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, Haferlach C, Storlazzi CT.

Leukemia. 2018 Oct;32(10):2152-2166. doi: 10.1038/s41375-018-0033-0. Epub 2018 Feb 22. Erratum in: Leukemia. 2018 Jul 9;:.

8.

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, Lo Muzio L.

Oncotarget. 2017 Sep 5;8(62):104913-104927. doi: 10.18632/oncotarget.20645. eCollection 2017 Dec 1.

9.

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.

Genetics. 2018 Mar;208(3):951-961. doi: 10.1534/genetics.117.300552. Epub 2017 Dec 26.

PMID:
29279323
10.

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.

Eur J Med Genet. 2018 May;61(5):248-252. doi: 10.1016/j.ejmg.2017.12.008. Epub 2017 Dec 20.

PMID:
29274487
11.

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.

Front Genet. 2017 Dec 6;8:206. doi: 10.3389/fgene.2017.00206. eCollection 2017.

12.

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.

Am J Med Genet A. 2018 Feb;176(2):391-398. doi: 10.1002/ajmg.a.38559. Epub 2017 Nov 28.

PMID:
29193617
13.

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

ĹAbbate 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, Haferlach C, Storlazzi CT.

Leukemia. 2017 Nov 28. doi: 10.1038/leu.2017.337. [Epub ahead of print]

PMID:
29180669
14.

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.

Seizure. 2017 Dec;53:86-93. doi: 10.1016/j.seizure.2017.11.009. Epub 2017 Nov 14.

PMID:
29156220
15.

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

Cinque L, Sparaneo A, Salcuni AS, de Martino D, Battista C, Logoluso F, Palumbo O, Cocchi R, Maiello E, Graziano P, Hendy GN, Cole DEC, Scillitani A, Guarnieri V.

Endocr Connect. 2017 Nov;6(8):886-891. doi: 10.1530/EC-17-0207. Epub 2017 Nov 2.

16.

Erratum to: 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.

BMC Med Genet. 2017 Sep 13;18(1):99. doi: 10.1186/s12881-017-0459-7. No abstract available.

17.

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.

Oncotarget. 2017 Jan 30;8(31):50715-50723. doi: 10.18632/oncotarget.14899. eCollection 2017 Aug 1.

18.

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.

BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0. Erratum in: BMC Med Genet. 2017 Sep 13;18(1):99.

19.

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.

Int J Mol Sci. 2017 Jul 20;18(7). pii: E1580. doi: 10.3390/ijms18071580.

20.

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.

Pediatrics. 2017 Jul;140(1). pii: e20164311. doi: 10.1542/peds.2016-4311. Epub 2017 Jun 20.

21.

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.

NPJ Schizophr. 2017 Apr 6;3:16. doi: 10.1038/s41537-017-0015-7. eCollection 2017.

22.

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, Papayannidis C, Ferrari S, Mazza T, Martinelli G, Storlazzi CT.

Haematologica. 2017 Jul;102(7):1204-1214. doi: 10.3324/haematol.2016.163022. Epub 2017 Apr 14.

23.

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.

Am J Med Genet A. 2017 Apr 13. doi: 10.1002/ajmg.a.38253. [Epub ahead of print]

PMID:
28407409
24.

Tailoring the physical properties of the mixtures of ionic liquids: a microscopic point of view.

Palumbo O, Trequattrini F, Navarra MA, Brubach JB, Roy P, Paolone A.

Phys Chem Chem Phys. 2017 Mar 22;19(12):8322-8329. doi: 10.1039/c7cp00850c.

PMID:
28280825
25.

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.

Mol Cell Probes. 2017 Jun;33:24-27. doi: 10.1016/j.mcp.2017.03.001. Epub 2017 Mar 3.

PMID:
28263784
26.

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.

Cancer Res. 2017 Feb 15;77(4):996-1007. doi: 10.1158/0008-5472.CAN-16-1693. Epub 2016 Dec 23. Erratum in: Cancer Res. 2017 Jul 15;77(14 ):3962.

27.

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.

Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20.

28.

Hydrogen Induced Abrupt Structural Expansion at High Temperatures of a Ni32Nb28Zr30Cu10 Membrane for H₂ Purification.

Palumbo O, Trequattrini F, Hulyalkar M, Sarker S, Pal N, Chandra D, Flanagan T, Dolan M, Paolone A.

Membranes (Basel). 2016 Nov 21;6(4). pii: E48.

29.

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.

Mol Syndromol. 2016 Oct;7(5):282-286. Epub 2016 Sep 2.

30.

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.

Sci Rep. 2016 Aug 11;6:31549. doi: 10.1038/srep31549.

31.

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.

Oncotarget. 2016 Dec 6;7(49):80363-80372. doi: 10.18632/oncotarget.10345.

32.

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.

Oncotarget. 2016 Jul 19;7(29):45444-45461. doi: 10.18632/oncotarget.9989.

33.

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.

Clin Epigenetics. 2016 Jun 16;8:69. doi: 10.1186/s13148-016-0236-z. eCollection 2016.

34.

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.

Chin J Cancer. 2016 Jun 7;35(1):51. doi: 10.1186/s40880-016-0115-1.

35.

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.

Mol Cytogenet. 2016 May 27;9:40. doi: 10.1186/s13039-016-0252-x. eCollection 2016.

36.

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.

Nucleic Acids Res. 2016 May 19;44(9):4025-36. doi: 10.1093/nar/gkw245. Epub 2016 Apr 11.

37.

Phase Transitions of PYR14-TFSI as a Function of Pressure and Temperature: the Competition between Smaller Volume and Lower Energy Conformer.

Capitani F, Trequattrini F, Palumbo O, Paolone A, Postorino P.

J Phys Chem B. 2016 Mar 24;120(11):2921-8. doi: 10.1021/acs.jpcb.5b12667. Epub 2016 Mar 10.

PMID:
26937556
38.

The Complex Dance of the Two Conformers of Bis(trifluoromethanesulfonyl)imide as a Function of Pressure and Temperature.

Capitani F, Gatto S, Postorino P, Palumbo O, Trequattrini F, Deutsch M, Brubach JB, Roy P, Paolone A.

J Phys Chem B. 2016 Feb 25;120(7):1312-8. doi: 10.1021/acs.jpcb.5b12537. Epub 2016 Feb 11.

PMID:
26840077
39.

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, Lo Cunsolo C, Mühlematter D, Schoumans J, Vandenberghe P, Van Hoof A, Palumbo O, Carella M, Mazza T, Storlazzi CT.

Mol Cancer. 2015 Dec 16;14:211. doi: 10.1186/s12943-015-0484-0.

40.

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.

Mol Cytogenet. 2015 Nov 24;8:93. doi: 10.1186/s13039-015-0196-6. eCollection 2015.

41.

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.

Tumour Biol. 2016 Apr;37(4):5503-13. doi: 10.1007/s13277-015-4391-1. Epub 2015 Nov 13.

PMID:
26566629
42.

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.

Mutat Res. 2015 Nov;781:32-6. doi: 10.1016/j.mrfmmm.2015.09.002. Epub 2015 Sep 10.

PMID:
26411299
43.

Relaxation Dynamics and Phase Transitions in Ionic Liquids: Viscoelastic Properties from the Liquid to the Solid State.

Palumbo O, Trequattrini F, Vitucci FM, Paolone A.

J Phys Chem B. 2015 Oct 8;119(40):12905-11. doi: 10.1021/acs.jpcb.5b06039. Epub 2015 Sep 29.

PMID:
26398479
44.

Interaction of 1-butyl-1-methylpyrrolidinium bis(trifluoromethanesulfonyl)imide with an electrospun PVdF membrane: Temperature dependence of the concentration of the anion conformers.

Vitucci FM, Palumbo O, Trequattrini F, Brubach JB, Roy P, Meschini I, Croce F, Paolone A.

J Chem Phys. 2015 Sep 7;143(9):094707. doi: 10.1063/1.4929986.

PMID:
26342383
45.

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.

Mol Cytogenet. 2015 Aug 16;8:66. doi: 10.1186/s13039-015-0170-3. eCollection 2015.

46.

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.

Chronobiol Int. 2015;32(7):903-16. doi: 10.3109/07420528.2015.1050726.

PMID:
26172092
47.

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.

Br J Haematol. 2016 Jan;172(2):296-9. doi: 10.1111/bjh.13482. Epub 2015 May 26. No abstract available.

PMID:
26010203
48.

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.

Am J Med Genet A. 2015 Sep;167A(9):2219-22. doi: 10.1002/ajmg.a.37142. Epub 2015 May 21. No abstract available.

PMID:
25994769
49.

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.

Inflamm Bowel Dis. 2015 Jun;21(6):1260-8. doi: 10.1097/MIB.0000000000000370.

50.

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.

J Hum Genet. 2015 Jun;60(6):287-93. doi: 10.1038/jhg.2015.29. Epub 2015 Mar 26.

PMID:
25809938

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