Orru S - Search Results

1

Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.

Saba L, Tiwari A, Biswas M, Gupta SK, Godia-Cuadrado E, Chaturvedi A, Turk M, Suri HS, Orru S, Sanches JM, Carcassi C, Marinho RT, Asare CK, Khanna NN, B K M, Suri JS. Saba L, et al. Among authors: orru s. Front Biosci (Elite Ed). 2019 Jun 1;11(1):166-185. doi: 10.2741/E854. Front Biosci (Elite Ed). 2019. PMID: 31136971 Free article. Review.

2

The absence of 21-OH A and C4 B genes is a constant characteristic of the "Sardinian" HLA extended haplotype A30 Cw5 B18 BfF1 DR3 DRw52 DQw2.

Carcassi C, Porcella R, Manca ML, Orrù S, La Nasa G, Contu L. Carcassi C, et al. Among authors: orru s. Tissue Antigens. 1989 Aug;34(2):85-9. doi: 10.1111/j.1399-0039.1989.tb01720.x. Tissue Antigens. 1989. PMID: 2609326

3

La Nasa G, Vacca A, Littera R, Piras E, Orru S, Greco M, Carcassi C, Caocci G. La Nasa G, et al. Among authors: orru s. Mediterr J Hematol Infect Dis. 2016 Oct 20;8(1):e2016048. doi: 10.4084/MJHID.2016.048. eCollection 2016. Mediterr J Hematol Infect Dis. 2016. PMID: 27872728 Free PMC article. Review.

4

Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function.

Orrù S, Coni P, Floris A, Littera R, Carcassi C, Sogos V, Brancia C. Orrù S, et al. Hum Mol Genet. 2016 Oct 15;25(20):4473-4483. doi: 10.1093/hmg/ddw276. Hum Mol Genet. 2016. PMID: 28172957

5

24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

Orrù S, Thomas G, Loizedda A, Cox DW, Contu L. Orrù S, et al. Hum Mutat. 1997;10(1):84-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.0.CO;2-W. Hum Mutat. 1997. PMID: 9222767 No abstract available.

6

Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN).

Orrù S, Giuressi E, Carcassi C, Casula M, Contu L. Orrù S, et al. Am J Hum Genet. 2005 Jan;76(1):164-71. doi: 10.1086/426948. Epub 2004 Nov 4. Am J Hum Genet. 2005. PMID: 15529278 Free PMC article.

7

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB. Orrù S, et al. Among authors: orru n. Clin Genet. 2012 Feb;81(2):172-8. doi: 10.1111/j.1399-0004.2011.01668.x. Epub 2011 Apr 18. Clin Genet. 2012. PMID: 21418058

8

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia.

Caocci G, Greco M, Arras M, Cusano R, Orrù S, Martino B, Abruzzese E, Galimberti S, Mulas O, Trucas M, Littera R, Lai S, Carcassi C, La Nasa G. Caocci G, et al. Among authors: orru s. Leuk Res. 2017 Oct;61:1-5. doi: 10.1016/j.leukres.2017.08.005. Epub 2017 Aug 18. Leuk Res. 2017. PMID: 28841441

9

Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia.

Orrù S, Orrù N, Manolakos E, Littera R, Caocci G, Giorgiani G, Bertaina A, Pagliara D, Giardini C, Nesci S, Locatelli F, Carcassi C, La Nasa G. Orrù S, et al. Among authors: orru n. Hum Immunol. 2012 Mar;73(3):282-6. doi: 10.1016/j.humimm.2011.12.014. Epub 2011 Dec 31. Hum Immunol. 2012. PMID: 22245568 Free PMC article.

10

HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.

Cossu A, Orrù S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V. Cossu A, et al. Among authors: orru s. Biochim Biophys Acta. 2006 Jan;1762(1):29-33. doi: 10.1016/j.bbadis.2005.03.012. Epub 2005 Apr 13. Biochim Biophys Acta. 2006. PMID: 16216473 Free article.

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