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Page 1
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
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.
A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure.
Orgiana G, Pinna G, Camedda A, De Falco V, Santoro M, Melillo RM, Elisei R, Romei C, Lai S, Carcassi C, Mariotti S. Orgiana G, et al. Among authors: carcassi c. J Clin Endocrinol Metab. 2004 Oct;89(10):4810-6. doi: 10.1210/jc.2004-0365. J Clin Endocrinol Metab. 2004. PMID: 15472167
The distribution of KIR-HLA functional blocks is different from north to south of Italy.
Fasano ME, Rendine S, Pasi A, Bontadini A, Cosentini E, Carcassi C, Capittini C, Cornacchini G, Espadas de Arias A, Garbarino L, Carella G, Mariotti ML, Mele L, Miotti V, Moscetti A, Nesci S, Ozzella G, Piancatelli D, Porfirio B, Riva MR, Romeo G, Tagliaferri C, Lombardo C, Testi M, Amoroso A, Martinetti M. Fasano ME, et al. Among authors: carcassi c. Tissue Antigens. 2014 Mar;83(3):168-73. doi: 10.1111/tan.12299. Tissue Antigens. 2014. PMID: 24571475
Distribution of killer cell immunoglobulin-like receptors genes in the Italian Caucasian population.
Bontadini A, Testi M, Cuccia MC, Martinetti M, Carcassi C, Chiesa A, Cosentini E, Dametto E, Frison S, Iannone AM, Lombardo C, Malagoli A, Mariani M, Mariotti L, Mascaretti L, Mele L, Miotti V, Nesci S, Ozzella G, Piancatelli D, Romeo G, Tagliaferri C, Vatta S, Andreani M, Conte R. Bontadini A, et al. Among authors: carcassi c. J Transl Med. 2006 Oct 27;4:44. doi: 10.1186/1479-5876-4-44. J Transl Med. 2006. PMID: 17069649 Free PMC article.
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population.
Capalbo A, Sagnella F, Apa R, Fulghesu AM, Lanzone A, Morciano A, Farcomeni A, Gangale MF, Moro F, Martinez D, Ciardulli A, Palla C, Uras ML, Spettu F, Cappai A, Carcassi C, Neri G, Tiziano FD. Capalbo A, et al. Among authors: carcassi c. Clin Endocrinol (Oxf). 2012 Jul;77(1):113-9. doi: 10.1111/j.1365-2265.2012.04372.x. Clin Endocrinol (Oxf). 2012. PMID: 22356187
125 results