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Results: 1 to 20 of 172

1.

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.

Genet Med. 2014 Sep 18. doi: 10.1038/gim.2014.118. [Epub ahead of print]

PMID:
25232855
[PubMed - as supplied by publisher]
2.

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.

PLoS One. 2014 Aug 1;9(8):e104080. doi: 10.1371/journal.pone.0104080. eCollection 2014.

PMID:
25084273
[PubMed - in process]
Free PMC Article
3.

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

Mozzillo E, Delvecchio M, Carella M, Grandone E, Palumbo P, Salina A, Aloi C, Buono P, Izzo A, D'Annunzio G, Vecchione G, Orrico A, Genesio R, Simonelli F, Franzese A.

BMC Med Genet. 2014 Jul 24;15:88. doi: 10.1186/1471-2350-15-88.

PMID:
25056293
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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, De Bellis G, Rocchi M, Carbone L, Storlazzi CT.

Nucleic Acids Res. 2014 Oct 1;42(14):9131-45. doi: 10.1093/nar/gku590. Epub 2014 Jul 17.

PMID:
25034695
[PubMed - in process]
Free Article
5.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C.

Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.

PMID:
24952745
[PubMed - in process]
6.

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A, Melchionda S, Carella M, Trevisi P, Bovo R, Manara R, Martini A.

Int J Pediatr Otorhinolaryngol. 2014 Aug;78(8):1201-10. doi: 10.1016/j.ijporl.2014.03.032. Epub 2014 Apr 12.

PMID:
24803398
[PubMed - in process]
7.

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.

FEMS Microbiol Ecol. 2014 May;88(2):345-57. doi: 10.1111/1574-6941.12303. Epub 2014 Mar 20.

PMID:
24579873
[PubMed - indexed for MEDLINE]
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 CS.

Mol Syndromol. 2014 Jan;5(1):11-8. doi: 10.1159/000356459. Epub 2013 Nov 28.

PMID:
24550760
[PubMed]
Free PMC Article
9.

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.

Gene. 2014 Apr 1;538(2):373-8. doi: 10.1016/j.gene.2014.01.050. Epub 2014 Jan 29.

PMID:
24487052
[PubMed - indexed for MEDLINE]
10.

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.

Am J Med Genet A. 2014 Mar;164A(3):828-33. doi: 10.1002/ajmg.a.36363. Epub 2014 Jan 23.

PMID:
24458984
[PubMed - in process]
11.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

PMID:
24381304
[PubMed - in process]
12.

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.

Int J Oncol. 2014 Mar;44(3):717-24. doi: 10.3892/ijo.2013.2224. Epub 2013 Dec 23.

PMID:
24366606
[PubMed - indexed for MEDLINE]
13.

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

Ercolino T, Lai R, Giachè V, Melchionda S, Carella M, Delitala A, Mannelli M, Fanciulli G.

Gene. 2014 Feb 25;536(2):332-5. doi: 10.1016/j.gene.2013.12.003. Epub 2013 Dec 21.

PMID:
24361808
[PubMed - indexed for MEDLINE]
14.

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V.

PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013.

PMID:
24340015
[PubMed - in process]
Free PMC Article
15.

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.

Am J Med Genet A. 2014 Jan;164A(1):182-5. doi: 10.1002/ajmg.a.36191. Epub 2013 Nov 8.

PMID:
24214456
[PubMed - in process]
16.

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.

PLoS One. 2013 Oct 23;8(10):e78452. doi: 10.1371/journal.pone.0078452. eCollection 2013.

PMID:
24194935
[PubMed - in process]
Free PMC Article
17.

Diversity of Porifera in the Mediterranean coralligenous accretions, with description of a new species.

Bertolino M, Cerrano C, Bavestrello G, Carella M, Pansini M, Calcinai B.

Zookeys. 2013 Sep 27;(336):1-37. doi: 10.3897/zookeys.336.5139. eCollection 2013.

PMID:
24146570
[PubMed]
Free PMC Article
18.

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.

Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7.

PMID:
24124115
[PubMed - indexed for MEDLINE]
19.

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.

Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.

PMID:
23756441
[PubMed - in process]
20.

VHL gene alterations in Italian patients with isolated renal cell carcinomas.

Muscarella LA, D'Agruma L, la Torre A, Gigante M, Coco M, Parrella P, Battaglia M, Carrieri G, Carella M, Zelante L, Fazio VM, Gesualdo L, Ranieri E.

Int J Biol Markers. 2013 Jun 28;28(2):208-15. doi: 10.5301/jbm.5000011.

PMID:
23558940
[PubMed - indexed for MEDLINE]

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