Meloni A - Search Results

1

Height-reducing variants and selection for short stature in Sardinia.

Zoledziewska M, Sidore C, Chiang CWK, Sanna S, Mulas A, Steri M, Busonero F, Marcus JH, Marongiu M, Maschio A, Ortega Del Vecchyo D, Floris M, Meloni A, Delitala A, Concas MP, Murgia F, Biino G, Vaccargiu S, Nagaraja R, Lohmueller KE; UK10K consortium; Timpson NJ, Soranzo N, Tachmazidou I, Dedoussis G, Zeggini E; Understanding Society Scientific Group; Uzzau S, Jones C, Lyons R, Angius A, Abecasis GR, Novembre J, Schlessinger D, Cucca F. Zoledziewska M, et al. Among authors: meloni a. Nat Genet. 2015 Nov;47(11):1352-1356. doi: 10.1038/ng.3403. Epub 2015 Sep 14. Nat Genet. 2015. PMID: 26366551 Free PMC article.

2

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, Heino M, Krohn KJ, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE. Rosatelli MC, et al. Among authors: meloni a. Hum Genet. 1998 Oct;103(4):428-34. doi: 10.1007/s004390050846. Hum Genet. 1998. PMID: 9856486

3

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: meloni a. Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17. Clin Genet. 2018. PMID: 28644547

4

Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population.

Rosatelli MC, Tuveri T, Scalas MT, Leoni GB, Sardu R, Faà V, Meloni A, Pischedda MA, Demurtas M, Monni G, et al. Rosatelli MC, et al. Among authors: meloni a. Hum Genet. 1992 Aug;89(6):585-9. doi: 10.1007/BF00221942. Hum Genet. 1992. PMID: 1511973

5

Molecular characterization of beta-thalassemia in the Sardinian population.

Rosatelli MC, Dozy A, Faà V, Meloni A, Sardu R, Saba L, Kan YW, Cao A. Rosatelli MC, et al. Among authors: meloni a. Am J Hum Genet. 1992 Feb;50(2):422-6. Am J Hum Genet. 1992. PMID: 1734721 Free PMC article.

6

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].

Boccone L, Meloni A, Falchi AM, Usai V, Cao A. Boccone L, et al. Among authors: meloni a. Am J Med Genet. 1994 Jul 1;51(3):258-9. doi: 10.1002/ajmg.1320510317. Am J Med Genet. 1994. PMID: 8074155

7

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.

Rosatelli MC, Meloni A, Faa V, Saba L, Crisponi G, Clemente MG, Meloni G, Piga MT, Cao A. Rosatelli MC, et al. Among authors: meloni a, meloni g. J Med Genet. 1997 Feb;34(2):122-5. doi: 10.1136/jmg.34.2.122. J Med Genet. 1997. PMID: 9039987 Free PMC article.

8

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.

Saba L, Leoni GB, Meloni A, Faà V, Cao A, Rosatelli MC. Saba L, et al. Among authors: meloni a. Hum Mol Genet. 1993 Oct;2(10):1739-40. doi: 10.1093/hmg/2.10.1739. Hum Mol Genet. 1993. PMID: 7505693 No abstract available.

9

Molecular mechanism accounting for milder types of thalassemia major.

Furbetta M, Tuveri T, Rosatelli C, Angius A, Falchi AM, Cossu P, Meloni A, Giagu N, Cao A. Furbetta M, et al. Among authors: meloni a. J Pediatr. 1983 Jul;103(1):35-9. doi: 10.1016/s0022-3476(83)80771-9. J Pediatr. 1983. PMID: 6191017

10

A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.

Putzolu M, Meloni A, Loche S, Pischedda C, Cao A, Moi P. Putzolu M, et al. Among authors: meloni a. J Endocrinol Invest. 1997 May;20(5):286-8. doi: 10.1007/BF03350302. J Endocrinol Invest. 1997. PMID: 9258809

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