Search Results - "Saba, Luisella"

Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies by Rosatelli, Maria Cristina, Saba, Luisella

“…Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental…”
Get full text

Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population by Saba, Luisella, Masala, Maddalena, Capponi, Valentina, Marceddu, Giuseppe, Massidda, Matteo, Rosatelli, Maria Cristina

“…β-Thalassemia is the most common autosomal recessive single-gene disorder in Sardinia, where approximately 10.3% of the population is a carrier. Prenatal…”
Get full text

Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin by Masala, Maddalena, Saba, Luisella, Zoppi, Maria Angelica, Puddu, Rosalba, Picciau, Andrea, Capponi, Valentina, Iuculano, Ambra, Monni, Giovanni, Rosatelli, Maria Cristina

“…What's already known about this topic? Risk of misdiagnosis in NIPT carried out by cfDNA analysis in presence of vanishing twins. Importance of ultrasound…”
Get full text

AIRE acetylation and deacetylation: effect on protein stability and transactivation activity by Incani, Federica, Serra, Maria, Meloni, Alessandra, Cossu, Carla, Saba, Luisella, Cabras, Tiziana, Messana, Irene, Rosatelli, Maria C

“…The AIRE protein plays a remarkable role as a regulator of central tolerance by controlling the promiscuous expression of tissue-specific antigens in thymic…”
Get full text

Multiplex genotyping of CYP3A4, CYP3A5, CYP2C9 and CYP2C19 SNPs using MALDI-TOF mass spectrometry by Falzoi, Matteo, Mossa, Alessandra, Congeddu, Elena, Saba, Luisella, Pani, Luca

“…Pharmacogenetics is the study of genetic variations that cause alterations in drug level, drug response and adverse drug reactions. SNPs found in CYP450 genes…”
Get more information

PRENATAL DIAGNOSIS OF β-THALASSEMIAS AND HEMOGLOBINOPATHIES by Luisella Saba, Maria Cristina Rosatelli

“…  Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental…”
Get full text

The cerebellar GABAA α6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats by SANNA, Angela, CONGEDDU, Elena, SABA, Luisella, PORCELLA, Anna, MARCHESE, Giorgio, RUIU, Stefania, CASTI, Paola, SABA, Pierluigi, PANI, Luca

Get full text

Characterization of wild-type (R100R) and mutated (Q100Q) GABAA α6 subunit in Sardinian alcohol non-preferring rats (sNP) by Sanna, Angela, Congeddu, Elena, Porcella, Anna, Saba, Luisella, Pistis, Marco, Peis, Michela, Marchese, Giorgio, Ruiu, Stefania, Lobina, Carla, Grayson, Dennis R., Gessa, Gian Luigi, Pani, Luca

Get full text

The cerebellar GABAA alpha6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats by Sanna, Angela, Congeddu, Elena, Saba, Luisella, Porcella, Anna, Marchese, Giorgio, Ruiu, Stefania, Casti, Paola, Saba, Pierluigi, Pani, Luca

“…Sardinian alcohol non-preferring (sNP) rats carry a point mutation (R100Q) in the cerebellar expressed GABAA receptor alpha6 subunit gene, leading to a higher…”
Get full text

The cerebellar GABA A α 6 subunit is differentially modulated by chronic ethanol exposure in normal (R100R) and mutated (Q100Q) sNP rats by Sanna, Angela, Congeddu, Elena, Saba, Luisella, Porcella, Anna, Marchese, Giorgio, Ruiu, Stefania, Casti, Paola, Saba, Pierluigi, Pani, Luca

“…Sardinian alcohol non-preferring (sNP) rats carry a point mutation (R100Q) in the cerebellar expressed GABA A receptor α 6 subunit gene, leading to a higher…”
Get full text

Characterization of wild-type (R100R) and mutated (Q100Q) GABA A α 6 subunit in Sardinian alcohol non-preferring rats (sNP) by Sanna, Angela, Congeddu, Elena, Porcella, Anna, Saba, Luisella, Pistis, Marco, Peis, Michela, Marchese, Giorgio, Ruiu, Stefania, Lobina, Carla, Grayson, Dennis R., Gessa, Gian Luigi, Pani, Luca

“…Sardinian alcohol non-preferring (sNP) rats, selected for their low ethanol preference and consumption, carry a point mutation (R100Q) in the gene coding for…”
Get full text

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 by SABA, Luisella, PORCELLA, Anna, SANNA, Angela, CONGEDDU, Elena, MARZILIANO, Nicola, MONGEAU, Raymond, GRAYSON, Dennis, PANI, Luca

Get full text

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 by Saba, Luisella, Porcella, Anna, Sanna, Angela, Congeddu, Elena, Marziliano, Nicola, Mongeau, Raymond, Grayson, Dennis, Pani, Luca

“…The presence of four nucleotide changes and a three base-pair deletion in the GABA A alpha6-subunit promoter is described in Sardinian alcohol non-preferring…”
Get full text

Characterization of wild-type (R100R) and mutated (Q100Q) GABAA alpha 6 subunit in Sardinian alcohol non-preferring rats (sNP) by Sanna, Angela, Congeddu, Elena, Porcella, Anna, Saba, Luisella, Pistis, Marco, Peis, Michela, Marchese, Giorgio, Ruiu, Stefania, Lobina, Carla, Grayson, Dennis R, Gessa, Gian Luigi, Pani, Luca

“…Sardinian alcohol non-preferring (sNP) rats, selected for their low ethanol preference and consumption, carry a point mutation (R100Q) in the gene coding for…”
Get full text

Five mutations in the GABA A α6 gene 5′ flanking region are associated with a reduced basal and ethanol-induced α6 upregulation in mutated Sardinian alcohol non-preferring rats by Saba, Luisella, Porcella, Anna, Sanna, Angela, Congeddu, Elena, Marziliano, Nicola, Mongeau, Raymond, Grayson, Dennis, Pani, Luca

“…The presence of four nucleotide changes and a three base-pair deletion in the GABA A α6-subunit promoter is described in Sardinian alcohol non-preferring rats,…”
Get full text

Molecular characterization of new polymorphisms at the β2, α1, γ2 GABAA receptor subunit genes associated to a rat nonpreferring ethanol phenotype by CONGEDDU, Elena, SABA, Luisella, PORCELLA, Anna, SANNA, Angela, MARCHESE, Giorgio, LOBINA, Carla, GESSA, Gian Luigi, PANI, Luca

Get full text

Molecular characterization of new polymorphisms at the beta2, alpha1, gamma2 GABA(A) receptor subunit genes associated to a rat nonpreferring ethanol phenotype by Congeddu, Elena, Saba, Luisella, Porcella, Anna, Sanna, Angela, Marchese, Giorgio, Lobina, Carla, Gessa, Gian Luigi, Pani, Luca

“…Recent preclinical and clinical studies have indicated a possible involvement of the genes encoding for the GABA(A) receptor subunits alpha6, beta2, alpha1 and…”
Get full text

Molecular Diagnosis and Carrier Screening for β Thalassemia by Cao, Antonio, Saba, Luisella, Galanello, Renzo, Rosatelli, Maria Cristina

“…Thalassemias are common autosomal recessive disorders especially in populations of Mediterranean, Middle Eastern, and Far Eastern descent. Relatively high…”
Get full text

Molecular characterization of new polymorphisms at the β2, α1, γ2 GABA A receptor subunit genes associated to a rat nonpreferring ethanol phenotype by Congeddu, Elena, Saba, Luisella, Porcella, Anna, Sanna, Angela, Marchese, Giorgio, Lobina, Carla, Gessa, Gian Luigi, Pani, Luca

“…Recent preclinical and clinical studies have indicated a possible involvement of the genes encoding for the GABA A receptor subunits α6, β2, α1 and γ2 in the…”
Get full text

THE REPEATED SEQUENCE (AT)X(T)Y UPSTREAM TO THE β-GLOBIN GENE IS A SIMPLE POLYMORPHISM by GALANELLO, RENZO, MELONI, ALESSANDRA, GASPERINI, DANIELA, SABA, LUISELLA, CAO, ANTONIO, ROSATELLI, M. CRISTINA, PERSEU, LUCIANA

Get full text