Search Results - "Scarciolla, Oronzo"

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) by GATTA, Valentina, SCARCIOLLA, Oronzo, GASPARI, Anna Rita, PALKA, Chiara, DE ANGELIS, Maria Vittoria, DI MUZIO, Antonio, GUANCIALI-FRANCHI, Paolo, CALABRESE, Giuseppe, UNCINI, Antonino, STUPPIA, Liborio

“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused in the majority of cases by deletions of the DMD gene and are readily…”
Get full text

Holotranscobalamin Is a Useful Marker of Vitamin B12 Deficiency in Alcoholics by Sacco, Andrea, Clemente, Rocco, Nuzzolese, Nicoletta, Vitullo, Eustachio, Scarciolla, Oronzo, Ciancio, Angela, Fragasso, Alberto, Mannarella, Clara

“…Background. Measurement of serum cobalamin (Cbl) levels is the standard investigation for assessing vitamin B12 deficiency. Falsely increased values of Cbl can…”
Get full text

Familial idiopathic hyper-CK-emia: An underrecognized condition by Capasso, Margherita, De Angelis, Maria Vittoria, Di Muzio, Antonio, Scarciolla, Oronzo, Pace, Marta, Stuppia, Liborio, Comi, Giacomo Pietro, Uncini, Antonino

“…Persistent elevation of serum creatine kinase (CK) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia…”
Get full text

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements by Scarciolla, Oronzo, Brancati, Francesco, Valente, Enza Maria, Ferraris, Alessandro, De Angelis, Maria Vittoria, Valbonesi, Stefano, Garavaglia, Barbara, Uncini, Antonino, Palka, Giandomenico, Stuppia, Liborio, Dallapiccola, Bruno

“…Parkinson's disease (PD) is a common disorder caused by degeneration of dopaminergic neurons in the substantia nigra and other brain areas. Mutations in…”
Get full text

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…”
Get full text

Myocardial iron overload assessed by magnetic resonance imaging (MRI)T2 in multi-transfused patients with thalassemia and acquired anemias by Fragasso, Alberto, Ciancio, Angela, Mannarella, Clara, Gaudiano, Carlo, Scarciolla, Oronzo, Ottonello, Carlo, Francone, Marco, Nardella, Michele, Peluso, Angelo, Melpignano, Angela, Veglio, Maria Rosaria, Quarta, Giovanni, Turchetti, Cristiano

“…Abstract Background Cardiac complications secondary to iron overload remain a significant matter in patients with transfusion dependent anemias. Patients and…”
Get full text

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum by Marongiu, Roberta, Brancati, Francesco, Antonini, Angelo, Ialongo, Tamara, Ceccarini, Caterina, Scarciolla, Oronzo, Capalbo, Anna, Benti, Riccardo, Pezzoli, Gianni, Dallapiccola, Bruno, Goldwurm, Stefano, Valente, Enza Maria

“…Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset…”
Get full text

Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization to detect chromosomal abnormalities in Chronic lymphocytic leukemia: A comparative study by Fabris, Sonia, Scarciolla, Oronzo, Morabito, Fortunato, Cifarelli, Rosa Anna, Dininno, Caterina, Cutrona, Giovanna, Matis, Serena, Recchia, Anna Grazia, Gentile, Massimo, Ciceri, Gabriella, Ferrarini, Manlio, Ciancio, Angela, Mannarella, Clara, Neri, Antonino, Fragasso, Alberto

“…Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease characterized by recurrent chromosomal aberrations of prognostic significance. We…”
Get full text

Peripheral blood hemophagocytosis in an unusual lymphoma by Fragasso, Alberto, Mannarella, Clara, Ciancio, Angela, Scarciolla, Oronzo

“…Key Clinical Message We describe a patient with fever, pancytopenia, and hepato‐splenomegaly associated with the finding of neoplastic lymphoid cells and…”
Get full text

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex” by Castori, Marco, Scarciolla, Oronzo, Morlino, Silvia, Manente, Liborio, Biscaglia, Assunta, Fragasso, Alberto, Grammatico, Paola

“…The term “phacomatosis” refers to a growing number of sporadic genetic skin disorders characterized by the combination of two or more different nevi and…”
Get full text

Simultaneous Detection of Genomic Rearrangements In Myelodysplastic Syndromes (MDS) with the Multiplex Ligation-Dependent Probe Amplification (MLPA) Assay by Scarciolla, Oronzo, Fragasso, Alberto, Mannarella, Clara, Ciancio, Angela, Cifarelli, Rosa Anna, Gentile, Massimo, Dininno, Catia, Mazzone, Carla, Recchia, Anna Grazia, Servillo, Pasquale, Vigna, Ernesto, Casieri, Paola, Anelli, Lisa, Morabito, Fortunato, Specchia, Giorgina

“…Abstract 1863 Clonal chromosome abnormalities are present in the marrow cells in about 50% of patients with myelodysplastic syndromes (MDS) at the time of…”
Get full text

Whole gene deletion and splicing mutations expand thePINK1 genotypic spectrum by Marongiu, Roberta, Brancati, Francesco, Antonini, Angelo, Ialongo, Tamara, Ceccarini, Caterina, Scarciolla, Oronzo, Capalbo, Anna, Benti, Riccardo, Pezzoli, Gianni, Dallapiccola, Bruno, Goldwurm, Stefano, Valente, Enza Maria

Get full text

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene by Stuppia, Liborio, Gatta, Valentina, Scarciolla, Oronzo, Antonucci, Ivana, Morizio, Elisena, Calabrese, Giuseppe, Palka, Giandomenico

“…The male-specific region (MSY) of the Y chromosome contains genes involved mainly in male sex determination and in spermatogenesis. The majority of genes…”
Get full text

Peripheral blood hemophagocytosis in an unusual lymphoma by Fragasso, Alberto, Mannarella, Clara, Ciancio, Angela, Scarciolla, Oronzo

Get full text

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the "phacomatosis complex" by Castori, Marco, Scarciolla, Oronzo, Morlino, Silvia, Manente, Liborio, Biscaglia, Assunta, Fragasso, Alberto, Grammatico, Paola

Get full text

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome by Gatta, Valentina, Scarciolla, Oronzo, Cupaioli, Massimo, Palka, Chiara, Chiesa, Pierluigi Lelli, Stuppia, Liborio

“…Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, being characterised by variable association of lower lip pits, cleft lip and…”
Get more information