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Items: 38

1.

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L.

Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28.

PMID:
30859550
2.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, Pes V, Perria C, Cuccuru G, Atzeni R, Serra G, Cucca F, Sotgiu S, Hennekam RC, Crisponi L.

Am J Med Genet A. 2019 Apr;179(4):634-638. doi: 10.1002/ajmg.a.61052. Epub 2019 Feb 8.

PMID:
30737887
3.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.

BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7.

4.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LME, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.020. No abstract available.

5.

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.

Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L.

Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5.

PMID:
29399786
6.

Overexpression of the Cytokine BAFF and Autoimmunity Risk.

Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, Asunis I, Porcu E, Mulas A, Piras MG, Lobina M, Lai S, Marongiu M, Serra V, Marongiu M, Sole G, Busonero F, Maschio A, Cusano R, Cuccuru G, Deidda F, Poddie F, Farina G, Dei M, Virdis F, Olla S, Satta MA, Pani M, Delitala A, Cocco E, Frau J, Coghe G, Lorefice L, Fenu G, Ferrigno P, Ban M, Barizzone N, Leone M, Guerini FR, Piga M, Firinu D, Kockum I, Lima Bomfim I, Olsson T, Alfredsson L, Suarez A, Carreira PE, Castillo-Palma MJ, Marcus JH, Congia M, Angius A, Melis M, Gonzalez A, Alarcón Riquelme ME, da Silva BM, Marchini M, Danieli MG, Del Giacco S, Mathieu A, Pani A, Montgomery SB, Rosati G, Hillert J, Sawcer S, D'Alfonso S, Todd JA, Novembre J, Abecasis GR, Whalen MB, Marrosu MG, Meloni A, Sanna S, Gorospe M, Schlessinger D, Fiorillo E, Zoledziewska M, Cucca F.

N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528.

7.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Erratum in: Am J Hum Genet. 2018 Apr 5;102(4):713.

8.

Bacterial Genomic Data Analysis in the Next-Generation Sequencing Era.

Orsini M, Cuccuru G, Uva P, Fotia G.

Methods Mol Biol. 2016;1415:407-22. doi: 10.1007/978-1-4939-3572-7_21.

PMID:
27115645
9.

Simulating Cardiac Electrophysiology Using Unstructured All-Hexahedra Spectral Elements.

Cuccuru G, Fotia G, Maggio F, Southern J.

Biomed Res Int. 2015;2015:473279. doi: 10.1155/2015/473279. Epub 2015 Oct 25.

10.

Tools and data services registry: a community effort to document bioinformatics resources.

Ison J, Rapacki K, Ménager H, Kalaš M, Rydza E, Chmura P, Anthon C, Beard N, Berka K, Bolser D, Booth T, Bretaudeau A, Brezovsky J, Casadio R, Cesareni G, Coppens F, Cornell M, Cuccuru G, Davidsen K, Vedova GD, Dogan T, Doppelt-Azeroual O, Emery L, Gasteiger E, Gatter T, Goldberg T, Grosjean M, Grüning B, Helmer-Citterich M, Ienasescu H, Ioannidis V, Jespersen MC, Jimenez R, Juty N, Juvan P, Koch M, Laibe C, Li JW, Licata L, Mareuil F, Mičetić I, Friborg RM, Moretti S, Morris C, Möller S, Nenadic A, Peterson H, Profiti G, Rice P, Romano P, Roncaglia P, Saidi R, Schafferhans A, Schwämmle V, Smith C, Sperotto MM, Stockinger H, Vařeková RS, Tosatto SC, de la Torre V, Uva P, Via A, Yachdav G, Zambelli F, Vriend G, Rost B, Parkinson H, Løngreen P, Brunak S.

Nucleic Acids Res. 2016 Jan 4;44(D1):D38-47. doi: 10.1093/nar/gkv1116. Epub 2015 Nov 3.

11.

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.

Palomba G, Loi A, Porcu E, Cossu A, Zara I, Budroni M, Dei M, Lai S, Mulas A, Olmeo N, Ionta MT, Atzori F, Cuccuru G, Pitzalis M, Zoledziewska M, Olla N, Lovicu M, Pisano M, Abecasis GR, Uda M, Tanda F, Michailidou K, Easton DF, Chanock SJ, Hoover RN, Hunter DJ, Schlessinger D, Sanna S, Crisponi L, Palmieri G.

BMC Cancer. 2015 May 10;15:383. doi: 10.1186/s12885-015-1392-9.

12.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Palagano E, Blair HC, Pangrazio A, Tourkova I, Strina D, Angius A, Cuccuru G, Oppo M, Uva P, Van Hul W, Boudin E, Superti-Furga A, Faletra F, Nocerino A, Ferrari MC, Grappiolo G, Monari M, Montanelli A, Vezzoni P, Villa A, Sobacchi C.

J Bone Miner Res. 2015 Oct;30(10):1814-21. doi: 10.1002/jbmr.2517. Epub 2015 May 21.

13.

BioBlend.objects: metacomputing with Galaxy.

Leo S, Pireddu L, Cuccuru G, Lianas L, Soranzo N, Afgan E, Zanetti G.

Bioinformatics. 2014 Oct;30(19):2816-7. doi: 10.1093/bioinformatics/btu386. Epub 2014 Jun 12.

14.

Orione, a web-based framework for NGS analysis in microbiology.

Cuccuru G, Orsini M, Pinna A, Sbardellati A, Soranzo N, Travaglione A, Uva P, Zanetti G, Fotia G.

Bioinformatics. 2014 Jul 1;30(13):1928-9. doi: 10.1093/bioinformatics/btu135. Epub 2014 Mar 10.

15.

STAT3-mediated activation of microRNA cluster 17~92 promotes proliferation and survival of ALK-positive anaplastic large cell lymphoma.

Spaccarotella E, Pellegrino E, Ferracin M, Ferreri C, Cuccuru G, Liu C, Iqbal J, Cantarella D, Taulli R, Provero P, Di Cunto F, Medico E, Negrini M, Chan WC, Inghirami G, Piva R.

Haematologica. 2014 Jan;99(1):116-24. doi: 10.3324/haematol.2013.088286. Epub 2013 Aug 23.

16.

The PARIGA server for real time filtering and analysis of reciprocal BLAST results.

Orsini M, Carcangiu S, Cuccuru G, Uva P, Tramontano A.

PLoS One. 2013 May 7;8(5):e62224. doi: 10.1371/journal.pone.0062224. Print 2013.

17.

Interplay between Ret and Fap-1 regulates CD95-mediated apoptosis in medullary thyroid cancer cells.

Nicolini V, Cassinelli G, Cuccuru G, Bongarzone I, Petrangolini G, Tortoreto M, Mondellini P, Casalini P, Favini E, Zaffaroni N, Zunino F, Lanzi C.

Biochem Pharmacol. 2011 Oct 1;82(7):778-88. doi: 10.1016/j.bcp.2011.06.037. Epub 2011 Jul 2.

PMID:
21741956
18.

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, Whalen MB, Busonero F, Maschio A, Costa G, Melis MC, Deidda F, Poddie F, Morelli L, Farina G, Li Y, Dei M, Lai S, Mulas A, Cuccuru G, Porcu E, Liang L, Zavattari P, Moi L, Deriu E, Urru MF, Bajorek M, Satta MA, Cocco E, Ferrigno P, Sotgiu S, Pugliatti M, Traccis S, Angius A, Melis M, Rosati G, Abecasis GR, Uda M, Marrosu MG, Schlessinger D, Cucca F.

Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9.

19.

Concomitant downregulation of proliferation/survival pathways dependent on FGF-R3, JAK2 and BCMA in human multiple myeloma cells by multi-kinase targeting.

Cassinelli G, Ronchetti D, Laccabue D, Mattioli M, Cuccuru G, Favini E, Nicolini V, Greco A, Neri A, Zunino F, Lanzi C.

Biochem Pharmacol. 2009 Nov 1;78(9):1139-47. doi: 10.1016/j.bcp.2009.06.023. Epub 2009 Jun 23.

PMID:
19555670
20.

Proteomics study of medullary thyroid carcinomas expressing RET germ-line mutations: identification of new signaling elements.

Gorla L, Mondellini P, Cuccuru G, Miccichè F, Cassinelli G, Cremona M, Pierotti MA, Lanzi C, Bongarzone I.

Mol Carcinog. 2009 Mar;48(3):220-231. doi: 10.1002/mc.20474.

PMID:
18756447
21.

Synthesis and RET protein kinase inhibitory activity of 3-arylureidobenzylidene-indolin-2-ones.

Rizzi E, Cassinelli G, Dallavalle S, Lanzi C, Cincinelli R, Nannei R, Cuccuru G, Zunino F.

Bioorg Med Chem Lett. 2007 Jul 15;17(14):3962-8. Epub 2007 Apr 30.

PMID:
17499504
22.

Effect of paclitaxel on intracellular localization of c-Myc and P-c-Myc in prostate carcinoma cell lines.

Supino R, Favini E, Cuccuru G, Zunino F, Scovassi AI.

Ann N Y Acad Sci. 2007 Jan;1095:175-81.

PMID:
17404030
23.

Inhibition of c-Met and prevention of spontaneous metastatic spreading by the 2-indolinone RPI-1.

Cassinelli G, Lanzi C, Petrangolini G, Tortoreto M, Pratesi G, Cuccuru G, Laccabue D, Supino R, Belluco S, Favini E, Poletti A, Zunino F.

Mol Cancer Ther. 2006 Sep;5(9):2388-97.

24.

Apoptotic cell death induction and angiogenesis inhibition in large established medullary thyroid carcinoma xenografts by Ret inhibitor RPI-1.

Petrangolini G, Cuccuru G, Lanzi C, Tortoreto M, Belluco S, Pratesi G, Cassinelli G, Zunino F.

Biochem Pharmacol. 2006 Aug 14;72(4):405-14. Epub 2006 Jun 6.

PMID:
16756963
25.

Cellular effects and antitumor activity of RET inhibitor RPI-1 on MEN2A-associated medullary thyroid carcinoma.

Cuccuru G, Lanzi C, Cassinelli G, Pratesi G, Tortoreto M, Petrangolini G, Seregni E, Martinetti A, Laccabue D, Zanchi C, Zunino F.

J Natl Cancer Inst. 2004 Jul 7;96(13):1006-14.

PMID:
15240784
26.

RET/PTC oncoproteins: molecular targets of new drugs.

Lanzi C, Cassinelli G, Cuccuru G, Zanchi C, Laccabue D, Zunino F.

Tumori. 2003 Sep-Oct;89(5):520-2.

PMID:
14870776
27.

Inactivation of Ret/Ptc1 oncoprotein and inhibition of papillary thyroid carcinoma cell proliferation by indolinone RPI-1.

Lanzi C, Cassinelli G, Cuccuru G, Zaffaroni N, Supino R, Vignati S, Zanchi C, Yamamoto M, Zunino F.

Cell Mol Life Sci. 2003 Jul;60(7):1449-59.

PMID:
12943231
28.

Cellular bases of the antitumor activity of the novel taxane IDN 5109 (BAY59-8862) on hormone-refractory prostate cancer.

Cassinelli G, Lanzi C, Supino R, Pratesi G, Zuco V, Laccabue D, Cuccuru G, Bombardelli E, Zunino F.

Clin Cancer Res. 2002 Aug;8(8):2647-54.

29.

Cell cycle checkpoint efficiency and cellular response to paclitaxel in prostate cancer cells.

Lanzi C, Cassinelli G, Cuccuru G, Supino R, Zuco V, Ferlini C, Scambia G, Zunino F.

Prostate. 2001 Sep 15;48(4):254-64.

PMID:
11536305
30.

Clavilactones, a novel class of tyrosine kinase inhibitors of fungal origin.

Cassinelli G, Lanzi C, Pensa T, Gambetta RA, Nasini G, Cuccuru G, Cassinis M, Pratesi G, Polizzi D, Tortoreto M, Zunino F.

Biochem Pharmacol. 2000 Jun 15;59(12):1539-47.

PMID:
10799650
31.

Can deferoxamine be considered an ototoxic drug?

Masala W, Meloni F, Gallisai D, Careddu M, Secchi G, Cuccuru GB, Loriga V, Salvo G.

Scand Audiol Suppl. 1988;30:237-8.

PMID:
3227279
32.

Hb Sassari or alpha (2)126(H9)Asp---His beta 2 observed in a family from Northern Sardinia.

Masala B, Manca L, Stangoni A, Cuccuru GB, Wilson JB, Webber BB, Kutlar A, Huisman TH.

Hemoglobin. 1987;11(4):373-8. No abstract available.

PMID:
3667323
33.

Glucose-6-phosphate dehydrogenase deficiency and blood groups in northern Sardinia.

Martuzzi Veronesi F, Stangoni A, Cuccuru GB, Mulas G, Marogna G, Cossu G, Pettener D.

Hum Hered. 1985;35(6):399-402.

PMID:
3932186
34.

[Nutritional habits of homozygote beta-thalassemic subjects].

Pranzetti P, Manca L, Cuccuru G, Cherchi GM, Valora N.

Boll Soc Ital Biol Sper. 1984 Feb 28;60(2):383-9. Italian.

PMID:
6712799
35.

Plasma lipids and lipoproteins pattern in beta-thalassemia major.

Maioli M, Cuccuru GB, Pranzetti P, Pacifico A, Cherchi GM.

Acta Haematol. 1984;71(2):106-10.

PMID:
6421047
36.

[Non-A, non-B hepatitis].

Scalise G, Mura MS, Andreoni G, Cuccuru G, Stangoni A.

Ann Sclavo. 1980 May-Jun;22(3):374-84. Italian. No abstract available.

PMID:
6264869
37.

[Antibody response to infection by hepatitis viruses].

Scalise G, Mura MS, Piersimoni C, Cuccuru G, Stangoni A, Andreoni G.

Riv Emoter Immunoematol. 1980;27(1-2):116-26. Italian. No abstract available.

PMID:
6781055
38.

Disappearance after two years of HBsAg and HBsAb in multiply transfused thalassemic patients and in their relatives in Sardinia.

Scalise G, Cuccuru G, Stangoni A, Mela G, Cutillo S, Dore A, Gioannini P.

Panminerva Med. 1979 Jan-Mar;21(1):7-10. No abstract available.

PMID:
492747

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