L. Saba

发表

Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population

M. C. Rosatelli, G. Marceddu, L. Saba, 2017, European Journal of Human Genetics.

AIRE acetylation and deacetylation: effect on protein stability and transactivation activity

T. Cabras, I. Messana, C. Cossu, 2014, Journal of Biomedical Science.

Molecular characterization of beta-thalassemia in the Sardinian population.

Y. Kan, A. Cao, M. C. Rosatelli, 1992, American journal of human genetics.

Multiplex genotyping of CYP3A4, CYP3A5, CYP2C9 and CYP2C19 SNPs using MALDI-TOF mass spectrometry.

M. Falzoi, L. Pani, A. Mossa, 2010, Pharmacogenomics.

A novel β‐thalassemia mutation (G→A) at the initiation codon of the β‐globin gene

A. Meloni, A. Cao, P. Primignani, 1992 .

Thalassaemia in Azerbaijan.

A. Meloni, M. Petrou, B. Modell, 1994, Journal of medical genetics.

Promoter mutations producing mild β‐thalassaemia in the Italian population

A. Cao, M. Baldi, S. Murru, 1992, British journal of haematology.

The R100Q mutation of the GABA(A) alpha(6) receptor subunit may contribute to voluntary aversion to ethanol in the sNP rat line.

M. Pistis, G. Gessa, G. Colombo, 2001, Brain research. Molecular brain research.

Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

L. Saba, M. Rosatelli, 2009, Mediterranean journal of hematology and infectious diseases.

Molecular Diagnosis and Carrier Screening for β Thalassemia

A. Cao, R. Galanello, L. Saba, 1997 .

Molecular characterization of b̃-thalassemia in Sardinian polulation

Y. Kan, A. Cao, A. Dozy, 1992 .

Interindividual variability in L1CAM expression in the human kidney during development: are there implications for fetal programming of kidney diseases presenting in adulthood?

P. van Eyken, D. Fanni, G. Faa, 2022, European review for medical and pharmacological sciences.

The cerebellar GABAA α6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats

P. Casti, A. Sanna, A. Porcella, 2004, Brain Research.

Molecular characterization of new polymorphisms at the β2, α1, γ2 GABAA receptor subunit genes associated to a rat nonpreferring ethanol phenotype

G. Gessa, A. Sanna, A. Porcella, 2003 .

Molecular diagnosis and carrier screening for beta thalassemia.

A. Cao, R. Galanello, L. Saba, 1997, JAMA.

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

A. Cao, M. Piga, G. Meloni, 1997, Journal of medical genetics.

Five mutations in the GABAA α6 gene 5′ flanking region are associated with a reduced basal and ethanol-induced α6 upregulation in mutated Sardinian alcohol non-preferring rats☆

D. Grayson, N. Marziliano, R. Mongeau, 2005 .

Fetal programming of COVID-19: may the barker hypothesis explain the susceptibility of a subset of young adults to develop severe disease?

D. Fanni, D. Barcellona, G. Faa, 2021, European review for medical and pharmacological sciences.

Characterization of wild-type (R100R) and mutated (Q100Q) GABAA α6 subunit in Sardinian alcohol non-preferring rats (sNP)

D. Grayson, M. Pistis, G. Gessa, 2003, Brain Research.

Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin

M. Zoppi, G. Monni, A. Iuculano, 2015, Prenatal diagnosis.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

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

A. Cao, R. Galanello, L. Perseu, 1993, Blood.