Search Results - "Origone, P"

Molecular characterization of an Italian series of sporadic GISTs by Origone, P., Gargiulo, S., Mastracci, L., Ballestrero, A., Battistuzzi, L., Casella, C., Comandini, D., Cusano, R., Dei Tos, A. P., Fiocca, R., Garuti, A., Ghiorzo, P., Martinuzzi, C., Toffolatti, L., Bianchi Scarrà, G.

“…Purpose Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract. Most (80 %) contain activating mutations in the KIT…”
Get full text

SOD1 mutations in amyotrophic lateral sclerosis : Results from a multicenter Italian study by BATTISTINI, Stefania, GIANNINI, Fabio, CAPONNETTO, Claudia, ORIGONE, Paola, MAROCCHI, Alessandro, DEL CORONA, Alberto, SICILIANO, Gabriele, CARRERA, Paola, MASCIA, Vincenzo, GIAGHEDDU, Marcello, CARCASSI, Carlo, ORRU, Sandro, GRECO, Giuseppe, GARRE, Cecilia, PENCO, Silvana, BIBBO, Giuseppe, FERRERA, Loretta, MARINI, Valeria, CAUSARANO, Renzo, CASULA, Michela, LANDO, Giuliana, PATROSSO, Maria Cristina

“…Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterized by a progressive neurodegenerative process involving…”
Get full text

GIST mutational status and survival by De Cian, F, Origone, P, Mastracci, L, Di Domenico, S, Margarino, C, Ferretti, C, Bobbio, C, Belgrano, V, Valle, V, Fiocca, R

Get full text

Identifcation of the Nramp Gene in TV-I fibroblasts from Turbot Psetta maxima, formerly Scophthalmus maximus L. I758 (Pisces: scophthalmidae) by Origone, P., Mariottini, G.L., Pane, L.

“…The correct identification of the species of origin in cell culture procedures as well as the detection of eventual cross-contamination by other cells are of…”
Get full text

Genetic counselling in ALS: facts, uncertainties and clinical suggestions by Chiò, Adriano, Battistini, Stefania, Calvo, Andrea, Caponnetto, Claudia, Conforti, Francesca L, Corbo, Massimo, Giannini, Fabio, Mandrioli, Jessica, Mora, Gabriele, Sabatelli, Mario, Ajmone, Clara, Mastro, Enza, Pain, Debora, Mandich, Paola, Penco, Silvana, Restagno, Gabriella, Zollino, Marcella, Surbone, Antonella

“…The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of…”
Get full text

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases by Gasparini, P, Grifa, A, Origone, P, Coviello, D, Antonacci, R, Rocchi, M

“…The neurofibromatosis type I (NF1) gene was extensively screened for mutations using single strand conformation polymorphism (SSCP) technology. During the…”
Get more information

Novel MC1R variants in Ligurian melanoma patients and controls by Pastorino, Lorenza, Cusano, Roberto, Bruno, William, Lantieri, Francesca, Origone, Paola, Barile, Monica, Gliori, Sara, Shepherd, Graeme A., Sturm, Richard A., Scarra, Giovanna Bianchi

“…Several variant forms of the melanocortin‐1 receptor gene (MC1R) have been associated with red hair, fair skin and an increased risk for melanoma. Their…”
Get full text

Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma by Origone, Paola, Defferrari, Raffaella, Mazzocco, Katia, Cunsolo, Crocifissa Lo, Bernardi, Bruno De, Tonini, Gian Paolo

“…Neurofibromatosis type 1 (NF1) patients are susceptible to tumor development. In the present study we describe a child with NF1 and disseminated neuroblastoma…”
Get full text

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test by Marini, Valeria, Ferrera, Loretta, Dorcaratto, Alessandra, Viale, Giuseppe, Origone, Paola, Mareni, Cristina, Garrè, Cecilia

“…Familial cerebral cavernous malformation (CCM) exhibits autosomal dominant inheritance and is characterized by vascular disorders of the brain, which can lead…”
Get full text

Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration by Torrini, Margherita, Marchese, Cristiana, Vanzetti, Mario, Marini, Valeria, Origone, Paola, Garré, Cecilia, Mareni, Cristina

“…Allelic variants of several genes are increasingly recognized as susceptibility factors in age-related macular degeneration (AMD). Because of its metabolic…”
Get more information

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients by Marini, Valeria, Ferrera, Loretta, Pigatto, Francesca, Origone, Paola, Garrè, Cecilia, Dorcaratto, Alessandra, Viale, Giuseppe, Alberti, Francesco, Mareni, Cristina

Get full text

The Genoa experience of prenatal diagnosis in NF1 by Origone, Paola, Bonioli, Eugenio, Panucci, Elisabetta, Costabel, Simona, Ajmar, Franco, Coviello, Domenico A.

“…Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few…”
Get full text

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant by Grifa, A, Piemontese, M R, Melchionda, S, Origone, P, Zelante, L, Coviello, D, Fratta, G, Dallapiccola, B, Balestrazzi, P, Ajmar, F

“…Neurofibromatosis type 1 of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, café-au-lait spots and Lisch…”
Get more information

Early and long term follow-up with minisatellite probes in bone marrow transplanted patients by Mareni, C, Origone, P, Sessarego, M, Bacigalupo, A, Frassoni, F, Gualandi, F, Ajmar, F

“…Twenty-five patients who received bone marrow transplantation (BMT) for chronic granulocytic leukemia (CGL), acute leukemia and severe aplastic anemia were…”
Get more information

Expression and genomic configuration of GM-CSF, IL-3, M-CSF receptor (C-FMS), early growth response gene-1 (EGR-1) and M-CSF genes in primary myelodysplastic syndromes by Mareni, C, Sessarego, M, Montera, M, Fugazza, G, Origone, P, D'Amato, E, Lerza, R, Pistoia, V, Scarra, G B

“…Peripheral blood mononuclear cells from seventeen patients with primary myelodysplastic syndromes (MDS) in advanced stage were enriched for blasts and tested…”
Get more information

Linkage studies in Italian families with familial adenomatous polyposis by MARENI, C, STELLA, A, CARUSO, M. L, PALASCIANO, N, AJMAR, F, GUANTI, G, ORIGONE, P, SUSCA, F, MONTERA, M. P, LONOCE, A, PONZ DE LEON, M, SASSATELLI, R, GENTILE, M, STRAFACE, A

“…Linkage analysis was performed on 188 subjects belonging to 18 Italian families segregating for familial adenomatous polyposis (FAP) using 7 polymorphic…”
Get full text

Amplification of c-myc and pvt-1 homologous sequences in acute nonlymphatic leukemia by Asker, C, Mareni, C, Coviello, D, Ingvarsson, S, Sessarego, M, Origone, P, Klein, G, Sumeigi, J

“…Leukemic cells with double minute (DM) chromosomes from an ANLL(M1) patient were found to carry 10-15 fold amplified c-myc sequences. The linked pvt-1-like…”
Get more information

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation by Ferrera, Loretta, Caponnetto, Claudia, Marini, Valeria, Rizzi, Domenica, Bordo, Domenico, Penco, Silvana, Amoroso, Antonio, Origone, Paola, Garrè, Cecilia

“…INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disease. Mutations of the Cu/Zn superoxide dismutase gene (SOD1) are…”
Get full text

Involvement of chromosomal region 9q34 in a case of variant Ph1 translocation t(22;22) by Mareni, C, Sessarego, M, Coviello, D A, Origone, P, Ajmar, F

“…In a patient with chronic myelocytic leukemia chromosome analysis showed a translocation (22;22) (q13;q11). Chromosomes 9 were apparently not involved. Using…”
Get more information

Molecular analysis of Philadelphia-negative myeloproliferative syndromes with i(17q) by Mareni, C, Sessarego, M, Origone, P, Defferrari, R, Frassoni, F, Ajmar, F

“…We report two cases of myeloproliferative syndromes in which the only karyotypic abnormality was an isochromosome of the long arm of chromosome 17. Because…”
Get more information