Search Results - "ROSATELLI, Maria Cristina"

Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients by Meloni, Antonella, Willcox, Nick, Meager, Anthony, Atzeni, Michela, Wolff, Anette S. B, Husebye, Eystein S, Furcas, Maria, Rosatelli, Maria Cristina, Cao, Antonio, Congia, Mauro

“…Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene,…”
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Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles by Cocco, Eleonora, Meloni, Alessandra, Murru, Maria Rita, Corongiu, Daniela, Tranquilli, Stefania, Fadda, Elisabetta, Murru, Raffaele, Schirru, Lucia, Secci, Maria Antonietta, Costa, Gianna, Asunis, Isadora, Cuccu, Stefania, Fenu, Giuseppe, Lorefice, Lorena, Carboni, Nicola, Mura, Gioia, Rosatelli, Maria Cristina, Marrosu, Maria Giovanna

“…Vitamin D response elements (VDREs) have been found in the promoter region of the MS-associated allele HLA-DRB1*15:01, suggesting that with low vitamin D…”
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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…”
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Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification by SCARCIOLLA, Oronzo, STUPPIA, Liborio, GRAMMATICO, Parla, GIACANELLI, Manio, ROSATELLI, Maria Cristina, UNCINI, Antonino, DALLAPICCOLA, Bruno, DE ANGELIS, Maria Vittoria, MURRU, Stefania, PALKA, Chiara, GIULIANI, Rossella, PACE, Marta, DI MUZIO, Antonio, TORRENTE, Isabella, MORELLA, Annunziata

“…Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, causing symmetric…”
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The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity by Salvatore, Marco, Falbo, Vincenzo, Floridia, Giovanna, Censi, Federica, Tosto, Fabrizio, Bombieri, Cristina, Castaldo, Giuseppe, Pignatti, Pier Franco, Rosatelli, Maria Cristina, Taruscio, Domenica

“…The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis started in 2001; public laboratories distributed throughout Italy…”
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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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New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy by Cossu, Carla, Incani, Federica, Serra, Maria Luisa, Coiana, Alessandra, Crisponi, Giangiorgio, Boccone, Loredana, Rosatelli, Maria Cristina

“…Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with…”
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[beta]-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients by Incani, Federica, Cossu, Carla, Meloni, Alessandra, Faa, Valeria, Serra, Maria Luisa, Dettori, Federico, Meloni, Antonella, Rosatelli, Maria Cristina

“…Objective The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the [beta]-defensin cluster could be associated with…”
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β‐defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients by Incani, Federica, Cossu, Carla, Meloni, Alessandra, Faà, Valeria, Serra, Maria Luisa, Dettori, Federico, Meloni, Antonella, Rosatelli, Maria Cristina

“…Objective The aim of this study was to investigate whether a variation in the genomic copy number (CNV) of the β‐defensin cluster could be associated with the…”
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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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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…”
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DAXX Is a New AIRE-interacting Protein by Meloni, Allesandra, Fiorillo, Edoardo, Corda, Denise, Incani, Federica, Serra, Maria Luisa, Contini, Antonella, Cao, Antonio, Rosatelli, Maria Cristina

“…The AIRE protein plays a remarkable role as a regulator of central tolerance by controlling the promiscuous expression of tissue-specific antigens in thymic…”
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A novel pattern of uridine diphosphate glucuronosyltransferase polymorphisms associated with hyperbilirubinemia during nilotinib treatment by Fozza, Claudio, Pardini, Simonetta, Coiana, Alessandra, Rosatelli, Maria Cristina, Longinotti, Maurizio

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A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis by Faa′, Valeria, Coiana, Alessandra, Incani, Federica, Costantino, Lucy, Cao, Antonio, Rosatelli, Maria Cristina

“…Mutations within exons are responsible for aberrant splicing of pre-mRNA in several human disease genes and in some viral systems. Nonsense, missense, and even…”
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Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity by Meloni, Alessandra, Incani, Federica, Corda, Denise, Cao, Antonio, Rosatelli, Maria Cristina

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomic autoimmune disease resulting from the defective function of a gene…”
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Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis by Marcialis, Maria Antonietta, Faà, Valeria, Fanos, Vassilios, Puddu, Melania, Pintus, Maria Cristina, Cao, Antonio, Rosatelli, Maria Cristina

“…This paper describes the manifestaton in a child of a new syndrome characterized by unusual, severe, persistent hyponatremia associated with hyposmolarity,…”
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Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy by Meloni, Alessandra, Perniola, Roberto, Faà, Valeria, Corvaglia, Enrico, Cao, Antonio, Rosatelli, Maria Cristina

“…In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune…”
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Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program by Coiana, Alessandra, Faa', Valeria, Carta, Daniela, Puddu, Rosalba, Cao, Antonio, Rosatelli, Maria Cristina

“…Abstract Background In Sardinia the mutational spectrum of CFTR gene is well defined. A mutation detection rate of 94% can be achieved by screening for 15 CFTR…”
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DAXX is a new AIRE-interacting protein by Meloni, Alessandra, Fiorillo, Edoardo, Corda, Denise, Incani, Federica, Serra, Maria Luisa, Contini, Antonella, Cao, Antonio, Rosatelli, Maria Cristina

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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…”
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