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Items: 9

1.

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
2.

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.

3.

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
4.

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Sidore C, Busonero F, Maschio A, Porcu E, Naitza S, Zoledziewska M, Mulas A, Pistis G, Steri M, Danjou F, Kwong A, Ortega Del Vecchyo VD, Chiang CWK, Bragg-Gresham J, Pitzalis M, Nagaraja R, Tarrier B, Brennan C, Uzzau S, Fuchsberger C, Atzeni R, Reinier F, Berutti R, Huang J, Timpson NJ, Toniolo D, Gasparini P, Malerba G, Dedoussis G, Zeggini E, Soranzo N, Jones C, Lyons R, Angius A, Kang HM, Novembre J, Sanna S, Schlessinger D, Cucca F, Abecasis GR.

Nat Genet. 2015 Nov;47(11):1272-1281. doi: 10.1038/ng.3368. Epub 2015 Sep 14.

5.

Genetic variants regulating immune cell levels in health and disease.

OrrĂ¹ V, Steri M, Sole G, Sidore C, Virdis F, Dei M, Lai S, Zoledziewska M, Busonero F, Mulas A, Floris M, Mentzen WI, Urru SA, Olla S, Marongiu M, Piras MG, Lobina M, Maschio A, Pitzalis M, Urru MF, Marcelli M, Cusano R, Deidda F, Serra V, Oppo M, Pilu R, Reinier F, Berutti R, Pireddu L, Zara I, Porcu E, Kwong A, Brennan C, Tarrier B, Lyons R, Kang HM, Uzzau S, Atzeni R, Valentini M, Firinu D, Leoni L, Rotta G, Naitza S, Angius A, Congia M, Whalen MB, Jones CM, Schlessinger D, Abecasis GR, Fiorillo E, Sanna S, Cucca F.

Cell. 2013 Sep 26;155(1):242-56. doi: 10.1016/j.cell.2013.08.041.

6.

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny.

Francalacci P, Morelli L, Angius A, Berutti R, Reinier F, Atzeni R, Pilu R, Busonero F, Maschio A, Zara I, Sanna D, Useli A, Urru MF, Marcelli M, Cusano R, Oppo M, Zoledziewska M, Pitzalis M, Deidda F, Porcu E, Poddie F, Kang HM, Lyons R, Tarrier B, Gresham JB, Li B, Tofanelli S, Alonso S, Dei M, Lai S, Mulas A, Whalen MB, Uzzau S, Jones C, Schlessinger D, Abecasis GR, Sanna S, Sidore C, Cucca F.

Science. 2013 Aug 2;341(6145):565-9. doi: 10.1126/science.1237947.

7.

High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis.

Pistis G, Piras I, Pirastu N, Persico I, Sassu A, Picciau A, Prodi D, Fraumene C, Mocci E, Manias MT, Atzeni R, Cosso M, Pirastu M, Angius A.

PLoS One. 2009;4(2):e4654. doi: 10.1371/journal.pone.0004654. Epub 2009 Feb 27.

8.

IRAK-M is involved in the pathogenesis of early-onset persistent asthma.

Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G.

Am J Hum Genet. 2007 Jun;80(6):1103-14. Epub 2007 Apr 27.

9.

Multicenter randomized trial comparing meropenem (1.5 g daily) and imipenem/cilastatin (2 g daily) in the hospital treatment of community-acquired pneumonia.

Bartoloni A, Strohmeyer M, Corti G, Buonomini MI, Franchino L, Romanelli G, Moretti AM, De Vizzi GB, Petraglia A, Mancini P, Atzeni R, Fogliani V, Giura R, Paradisi F.

Drugs Exp Clin Res. 1999;25(6):243-52.

PMID:
10713862

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