Search Results - "Masala, Maddalena"

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene by Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A.Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M.Cristina

“…Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR…”
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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…”
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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…”
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Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene by Faà, Valeria, Masala, Maddalena, Cao, Antonio, Rosatelli, Maria Cristina

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