Saba L - Search Results

1

Kuliev AM, Rasulov IM, Dadasheva T, Schwarz EI, Rosatelli C, Saba L, Meloni A, Gemidjioglu E, Petrou M, Modell B. Kuliev AM, et al. Among authors: saba l. J Med Genet. 1994 Mar;31(3):209-12. doi: 10.1136/jmg.31.3.209. J Med Genet. 1994. PMID: 8014969 Free PMC article.

2

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.

Saba L, Meloni A, Sardu R, Travi M, Primignani P, Rosatelli MC, Cao A. Saba L, et al. Hum Mutat. 1992;1(5):420-2. doi: 10.1002/humu.1380010512. Hum Mutat. 1992. PMID: 1301952 No abstract available.

3

Promoter mutations producing mild beta-thalassaemia in the Italian population.

Meloni A, Rosatelli MC, Faà V, Sardu R, Saba L, Murru S, Sciarratta GV, Baldi M, Tannoia N, Vitucci A, et al. Meloni A, et al. Among authors: saba l. Br J Haematol. 1992 Feb;80(2):222-6. doi: 10.1111/j.1365-2141.1992.tb08904.x. Br J Haematol. 1992. PMID: 1550780

4

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: saba l. Am J Hum Genet. 1992 Feb;50(2):422-6. Am J Hum Genet. 1992. PMID: 1734721 Free PMC article.

5

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. 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.

6

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.

Rosatelli MC, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, Fattore S, Cao A. Rosatelli MC, et al. Among authors: saba l. Br J Haematol. 1994 Nov;88(3):562-5. doi: 10.1111/j.1365-2141.1994.tb05074.x. Br J Haematol. 1994. PMID: 7819068

7

The repeated sequence (AT)x(T)y upstream to the beta-globin gene is a simple polymorphism.

Galanello R, Meloni A, Gasperini D, Saba L, Cao A, Rosatelli MC, Perseu L. Galanello R, et al. Among authors: saba l. Blood. 1993 Apr 1;81(7):1974-5. Blood. 1993. PMID: 8461483 Free article. No abstract available.

8

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: saba l. 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.

9

Reduction of Total Brain and Cerebellum Volumes Associated With Neuronal Autoantibodies in Patients With APECED.

Meloni A, Corda G, Saba L, Ferri GL, Mariotti S, Cocco C. Meloni A, et al. Among authors: saba l. J Clin Endocrinol Metab. 2019 Jan 1;104(1):150-162. doi: 10.1210/jc.2018-01313. J Clin Endocrinol Metab. 2019. PMID: 30339230

10

Prenatal diagnosis of inherited hemoglobinopathies.

Cao A, Leoni GB, Sardu R, Pischedda MC, Saba L. Cao A, et al. Among authors: saba l. Recenti Prog Med. 1992 Apr;83(4):224-32. Recenti Prog Med. 1992. PMID: 1626118 Review.

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