Carcassi C - Search Results

1

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.

Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B. Borelli I, et al. Among authors: carcassi c. Eur J Hum Genet. 2013 Feb;21(2):154-61. doi: 10.1038/ejhg.2012.150. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781090 Free PMC article.

2

A genetic epidemiology study of congenital adrenal hyperplasia in Italy.

Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G. Gialluisi A, et al. Among authors: carcassi c. Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17. Clin Genet. 2018. PMID: 28644547

3

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: carcassi c. 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

4

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. Among authors: carcassi c. Immunogenetics. 1989;30(1):13-7. doi: 10.1007/BF02421464. Immunogenetics. 1989. PMID: 2744807

5

A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin.

Robledo R, Orru S, Sidoti A, Muresu R, Esposito D, Grimaldi MC, Carcassi C, Rinaldi A, Bernini L, Contu L, Romani M, Roe B, Siniscalco M. Robledo R, et al. Among authors: carcassi c. Genomics. 2002 Dec;80(6):585-92. doi: 10.1006/geno.2002.7014. Genomics. 2002. PMID: 12504850

6

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. Hum Immunol. 1991 Jul;31(3):159-64. doi: 10.1016/0198-8859(91)90021-z. Hum Immunol. 1991. PMID: 1890017

7

AIF-1 gene does not confer susceptibility to Behçet's disease: Analysis of extended haplotypes in Sardinian population.

Angioni MM, Piga M, Paladini F, Lai S, Erre GL, Floris A, Cauli A, Fiorillo MT, Passiu G, Carcassi C, Sorrentino R, Mathieu A. Angioni MM, et al. Among authors: carcassi c. PLoS One. 2018 Sep 25;13(9):e0204250. doi: 10.1371/journal.pone.0204250. eCollection 2018. PLoS One. 2018. PMID: 30252881 Free PMC article.

8

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. Among authors: carcassi c. Tissue Antigens. 1992 Oct;40(4):165-74. doi: 10.1111/j.1399-0039.1992.tb02041.x. Tissue Antigens. 1992. PMID: 1471143

9

A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.

Pinna G, Orgiana G, Carcassi C, Alba F, Cetani F, Pardi E, Marcocci C, Mariotti S. Pinna G, et al. Among authors: carcassi c. J Endocrinol Invest. 2004 Jun;27(6):577-82. doi: 10.1007/BF03347483. J Endocrinol Invest. 2004. PMID: 15717658

10

Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis.

Fiorillo MT, Cauli A, Carcassi C, Bitti PP, Vacca A, Passiu G, Bettosini F, Mathieu A, Sorrentino R. Fiorillo MT, et al. Among authors: carcassi c. Arthritis Rheum. 2003 May;48(5):1385-9. doi: 10.1002/art.10948. Arthritis Rheum. 2003. PMID: 12746911 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

125 results

Search Page

Filters