Saba L - Search Results

1

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

Saba L, Masala M, Capponi V, Marceddu G, Massidda M, Rosatelli MC. Saba L, et al. Eur J Hum Genet. 2017 May;25(5):600-607. doi: 10.1038/ejhg.2017.26. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272531 Free PMC article.

2

Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

Rosatelli MC, Saba L. Rosatelli MC, et al. Among authors: saba l. Mediterr J Hematol Infect Dis. 2009 Nov 15;1(1):e2009011. doi: 10.4084/MJHID.2009.011. Mediterr J Hematol Infect Dis. 2009. PMID: 21415992 Free PMC article.

3

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

Masala M, Saba L, Zoppi MA, Puddu R, Picciau A, Capponi V, Iuculano A, Monni G, Rosatelli MC. Masala M, et al. Among authors: saba l. Prenat Diagn. 2015 May;35(5):506-8. doi: 10.1002/pd.4489. Epub 2014 Sep 22. Prenat Diagn. 2015. PMID: 25174732 No abstract available.

4

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

Incani F, Serra M, Meloni A, Cossu C, Saba L, Cabras T, Messana I, Rosatelli MC. Incani F, et al. Among authors: saba l. J Biomed Sci. 2014 Aug 27;21(1):85. doi: 10.1186/s12929-014-0085-z. J Biomed Sci. 2014. PMID: 25158603 Free PMC article.

5

Characterization of wild-type (R100R) and mutated (Q100Q) GABAA alpha 6 subunit in Sardinian alcohol non-preferring rats (sNP).

Sanna A, Congeddu E, Porcella A, Saba L, Pistis M, Peis M, Marchese G, Ruiu S, Lobina C, Grayson DR, Gessa GL, Pani L. Sanna A, et al. Among authors: saba l. Brain Res. 2003 Mar 28;967(1-2):98-105. doi: 10.1016/s0006-8993(02)04230-0. Brain Res. 2003. PMID: 12650970

6

Molecular characterization of new polymorphisms at the beta2, alpha1, gamma2 GABA(A) receptor subunit genes associated to a rat nonpreferring ethanol phenotype.

Congeddu E, Saba L, Porcella A, Sanna A, Marchese G, Lobina C, Gessa GL, Pani L. Congeddu E, et al. Among authors: saba l. Brain Res Mol Brain Res. 2003 Feb 20;110(2):289-97. doi: 10.1016/s0169-328x(02)00660-5. Brain Res Mol Brain Res. 2003. PMID: 12591165

7

The cerebellar GABAA alpha6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats.

Sanna A, Congeddu E, Saba L, Porcella A, Marchese G, Ruiu S, Casti P, Saba P, Pani L. Sanna A, et al. Among authors: saba l, saba p. Brain Res. 2004 Feb 20;998(2):148-54. doi: 10.1016/j.brainres.2003.11.013. Brain Res. 2004. PMID: 14751585

8

Five mutations in the GABA A alpha6 gene 5' flanking region are associated with a reduced basal and ethanol-induced alpha6 upregulation in mutated Sardinian alcohol non-preferring rats.

Saba L, Porcella A, Sanna A, Congeddu E, Marziliano N, Mongeau R, Grayson D, Pani L. Saba L, et al. Brain Res Mol Brain Res. 2005 Jun 13;137(1-2):252-7. doi: 10.1016/j.molbrainres.2004.07.024. Epub 2005 Apr 18. Brain Res Mol Brain Res. 2005. PMID: 15950783

9

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

Saba L, Porcella A, Congeddu E, Colombo G, Peis M, Pistis M, Gessa GL, Pani L. Saba L, et al. Brain Res Mol Brain Res. 2001 Mar 5;87(2):263-70. doi: 10.1016/s0169-328x(01)00003-1. Brain Res Mol Brain Res. 2001. PMID: 11245930

10

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

Falzoi M, Mossa A, Congeddu E, Saba L, Pani L. Falzoi M, et al. Among authors: saba l. Pharmacogenomics. 2010 Apr;11(4):559-71. doi: 10.2217/pgs.09.172. Pharmacogenomics. 2010. PMID: 20350138

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