Search Results - "Scarano, M. I."

Whole-Gene APC Deletions Cause Classical Familial Adenomatous Polyposis, but not Attenuated Polyposis or "Multiple" Colorectal Adenomas by Sieber, O. M., Lamlum, H., Crabtree, M.D., Rowan, A. J., Barclay, E., Lipton, L., Hodgson, S., Thomas, H. J. W., Neale, K., Phillips, R. K. S., Farrington, S. M., Dunlop, M. G., Mueller, H. J., Bisgaard, M. L., Bulow, S., Fidalgo, P., Albuquerque, C., Scarano, M. I., Bodmer, W., Tomlinson, I. P. M., Heinimann, K.

“…Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal tumor predisposition that results from germ-line mutations in the APC gene…”
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Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene by DE ROSA, M, FASANO, C, PANARIELLO, L, SCARANO, M. I, BELLI, G, IANNELLI, A, CICILIANO, F, IZZO, P

“…Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We…”
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Desmin-free cardiomyocytes and myocardial dysfunction in end stage heart failure by Di Somma, S., Di Benedetto, M.P., Salvatore, G., Agozzino, L., Ferranti, F., Esposito, S., La Dogana, P., Scarano, M.I., Caputo, G., Cotrufo, M., De Santo, L., de Divitiis, O.

“…Our aim was to evaluate the desmin content in the myocardial tissue of patients with end‐stage heart failure of ischaemic origin and to assess its role on…”
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A novel Mbo II polymorphism in exon 15 of the human adenomatous polyposis coli gene by Rosa, Marina De, Scarano, M Irene, Panariello, Luigi, Salvatore, Francesco, Izzo, Paola

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Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online by Scarano, M I, De Rosa, M, Panariello, L, Carlomagno, N, Riegler, G, Rossi, G B, Bucci, L, Pesce, G, Toni, F, Renda, A, Izzo, P

“…Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis…”
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Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis by De Rosa, M, Scarano, M I, Panariello, L, Carlomagno, N, Rossi, G B, Tempesta, A, Borgheresi, P, Renda, A, Izzo, P

“…We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous…”
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hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online by Panariello, L, Scarano, M I, de Rosa, M, Capasso, L, Renda, A, Riegler, G, Rossi, G B, Salvatore, F, Izzo, P

“…Hereditary nonpolyposis colorectral cancer (HNPCC), an autosomal dominantly inherited predisposition for early onset colorectal cancer, accounts for at least…”
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Phenotype-genotype correlations in an extended family with adenomatosis coli and an unusual APC gene mutation by Ponz de Leon, M, Varesco, L, Benatti, P, Sassatelli, R, Izzo, P, Scarano, M I, Rossi, G B, Di Gregorio, C, Gismondi, V, Percesepe, A, de Rosa, M, Roncucci, L

“…Genotype-phenotype correlations in familial adenomatous polyposis are only partially understood and, in particular, little is known about the biomolecular…”
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The molecular basis of hereditary fructose intolerance in Italian children by Santamaria, R, Scarano, M I, Esposito, G, Chiandetti, L, Izzo, P, Salvatore, F

“…We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were…”
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Three novel germline mutations in the adenomatous polyposis coli gene by Scarano, Maria I., De Rosa, Marina, Gentile, Maurizio, Bucci, Luigi, Ferulano, Giuseppe P., Carlomagno, Nicola, Renda, Andrea, Guanti, Ginevra, Salvatore, Francesco, Izzo, Paola

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DNA methylation 40 years later: Its role in human health and disease by Scarano, Maria Irene, Strazzullo, Maria, Matarazzo, Maria Rosaria, D'Esposito, Maurizio

“…A long path, initiated more than 40 years ago, has led to a deeper understanding of the complexity of gene regulation in eukaryotic genomes. In addition to…”
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Familial colonic polyposis: effect of molecular analysis on the diagnostic-therapeutic approach by Carlomagno, N, Scarano, M I, Gargiulo, S, De Rosa, M, Panariello, L, Izzo, P, Renda, A

“…Germline mutations of the Adenomatous polyposis gene (APC) are responsible for Familial Adenomatous Polyposis (FAP), an inherited condition that predisposes to…”
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Peutz-Jeghers syndrome: case report and update on diagnosis and treatment by Capasso, L, Lombari, P, Scarano, M I, Izzo, P, D'Ambrosio, R, Iannucci, A, Formisano, V, Lombari, C

“…Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition with an incidence of 1/120.000 liveborns, characterized by the presence of…”
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hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds by Panariello, L, Scarano, MI, De Rosa, M, Capasso, L, Renda, A, Riegler, G, Rossi, G B, Salvatore, F, Izzo, P

“…Hereditary nonpolyposis colorectal cancer (HNPCC), an autosomal dominantly inherited predisposition for early onset colorectal cancer, accounts for at least 6%…”
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