Contu L - Search Results

1

Genome-wide scan with nearly 700,000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.

Piras IS, De Montis A, Calò CM, Marini M, Atzori M, Corrias L, Sazzini M, Boattini A, Vona G, Contu L. Piras IS, et al. Among authors: contu l. Eur J Hum Genet. 2012 Nov;20(11):1155-61. doi: 10.1038/ejhg.2012.65. Epub 2012 Apr 25. Eur J Hum Genet. 2012. PMID: 22535185 Free PMC article.

2

A new HLA-DR2 extended haplotype is involved in insulin-dependent diabetes mellitus susceptibility.

Carcassi C, Trucco G, Trucco M, Contu L. Carcassi C, et al. Among authors: contu l. Hum Immunol. 1991 Jul;31(3):159-64. doi: 10.1016/0198-8859(91)90021-z. Hum Immunol. 1991. PMID: 1890017

3

HLA structure of the Sardinian population: a haplotype study of 551 families.

Contu L, Arras M, Carcassi C, La Nasa G, Mulargia M. Contu L, et al. Tissue Antigens. 1992 Oct;40(4):165-74. doi: 10.1111/j.1399-0039.1992.tb02041.x. Tissue Antigens. 1992. PMID: 1471143

4

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. Among authors: contu l. 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.

5

Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR.

Orrù S, Pintor S, Loizedda A, Giuressi E, Murru R, Casula M, Carcassi C, Deiana L, Contu L. Orrù S, et al. Among authors: contu l. Am J Med Genet. 2000 Mar 6;91(1):34-8. doi: 10.1002/(sici)1096-8628(20000306)91:1<34::aid-ajmg6>3.3.co;2-k. Am J Med Genet. 2000. PMID: 10751086

6

Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).

Orrù S, Giuressi E, Casula M, Loizedda A, Murru R, Mulargia M, Masala MV, Cerimele D, Zucca M, Aste N, Biggio P, Carcassi C, Contu L. Orrù S, et al. Among authors: contu l. Tissue Antigens. 2002 Oct;60(4):292-8. doi: 10.1034/j.1399-0039.2002.600403.x. Tissue Antigens. 2002. PMID: 12472658

7

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: contu l. Tissue Antigens. 1989 Aug;34(2):85-9. doi: 10.1111/j.1399-0039.1989.tb01720.x. Tissue Antigens. 1989. PMID: 2609326

8

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. Among authors: contu l. 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.

9

HLA-dependent hypersensitivity to nevirapine in Sardinian HIV patients.

Littera R, Carcassi C, Masala A, Piano P, Serra P, Ortu F, Corso N, Casula B, La Nasa G, Contu L, Manconi PE. Littera R, et al. Among authors: contu l. AIDS. 2006 Aug 1;20(12):1621-6. doi: 10.1097/01.aids.0000238408.82947.09. AIDS. 2006. PMID: 16868443

10

The "Sardinian" HLA-A30,B18,DR3,DQw2 haplotype constantly lacks the 21-OHA and C4B genes. Is it an ancestral haplotype without duplication?

Contu L, Carcassi C, Dausset J. Contu L, et al. Immunogenetics. 1989;30(1):13-7. doi: 10.1007/BF02421464. Immunogenetics. 1989. PMID: 2744807

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