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Linkage disequilibrium of three polymorphic RFLPs markers in the apolipoproteins AI-CIII gene cluster on chromosome 11 1-gen-1993 Marasco, ; Melina, F.; Mele, E.; Quaresima, B.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Pujia, A.; Perrotti, N; Colonna, A.; Mattioli, ; Porcellini, A.; Costanzo, F. S.; Avvedimento, V. E.
Linkage disequilibrium of three polymorphic RFLP markers in the apolipoprotein AI-CIII cluster on chromosome 11 1-gen-1993 Marasco, O.; Melina, F.; Mele, E.; Quaresima, B.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Pujia, A.; Perrotti, N.; Colonna, A.; Mattioli, P. L.; Porcellini, A.; Costanzo, F; Avvedimento, V. E.
Analysis of three polymorphic markers(RFLPs)in the apolipoprotein AI-CIII gene cluster 1-gen-1993 Quaresima, B.; Marasco, O.; Melina, F.; Mele, E.; Zingone, A.; Focarelli, E.; Picciotti, E.; Martelli, M. L.; Fotino, L.; Vigna, M. F.; Baudi, F.; Dominijanni, A.; Angotti, E.; Perrotti, N; Porcellini, A.; Colonna, A.; Mattioli, P. L.; Costanzo, V. E. AVVEDIMENTO AND F.
Deletion polymorphism in the gene for angiotensin converting enzyme is associated to elevated fasting blood glucose levels 1-gen-1994 Zingone, A.; Dominijanni, A.; Mele, E.; Marasco, 0.; Melina, F.; Minchella, P.; Quaresima, B.; Tiano, M. T.; Gnasso, A.; Puija, A.; Perrotti, N
Deletion polymorphism in the gene for angiotensin converting enzyme is associated with elevated fasting blood glucose levels 1-gen-1994 Zingone, A.; Dominijanni, A.; Mele, E.; Marasco, O.; Melina, F.; Minchella, P.; Quaresima, B.; Tiano, Mt; Gnasso, A; Pujia, A.; Perrotti, N.
PCR analysis of the H ferritin multigene family reveals the existence of two classes of processed pseudogenes 1-gen-1994 Quaresima, B.; Tiano, M. T.; Porcellini, A.; D'Agostino, P.; Faniello, C.; Bevilacaqua, M. A.; Cimino, F.; Costanzo, F
Transcriptional activation of the H-ferritin gene in differentiated Caco-2 cells parallels a change in the activity of the nuclear factor Bbf 1-gen-1995 Bevilacqua, Ma; Faniello, C; D'Agostino, P; Quaresima, B; Tiano, Mt; Pignata, S; Russo, T; Cimino, F; Costanzo, F
Negative and positive elements in the promoter region of the human apoferritin L gene 1-gen-1995 D'Agostino, P; Faniello, C; Quaresima, B; Bevilacqua, Ma; Tiano, Mt; Ammendola, R; Cimino, F; Costanzo, F
A Common Mechanism Underlying the E1A Repression and the cAMP Stimulation of the H Ferritin Transcription 1-gen-1997 Bevilacqua, M A; Faniello, C; Quaresima, B; Tiano, Mt; Giuliano, P; Feliciello, A; Avvedimento, Ve; Cimino, F; Costanzo, F
A new L771L polymorphism in the BRCA1 gene frequently found in Southern Italy 1-gen-1998 Baudi, F; Grandinetti, C; Quaresima, B; Tassone, F; Barbieri, V; Costanzo, F; Venuta, S
Hereditary Nonpolyposis Colorectal Cancer: Identification of Novel Germline Mutations in Two Kindreds Not Fulfilling Amsterdam Criteria 1-gen-1998 Quaresima, B.; Grandinetti, C.; Baudi, F.; Tassone, P. F.; Barbieri, V.; Conforti, S.; Avvedimento, V. E.; Costanzo, F; Venuta, S.
Hereditary nonpolyposis colon cancer results from heritable defects in the MLH1, MSH2, PMS1 and PMS2 genes, which encode proteins involved in the mismatch repair process. In this work we report the identification of two novel germline mutations in the MLH1 gene from two unrelated HNPCC families. The two affected families do not fulfill the Amsterdam criteria. In family 1 we found a missense S93G mutation, which lies in a MLH1 domain critical for its MMR functions. In family 2 we found a two nucleotide insertion (AG) in position 523 from the AUG which determines an early stop codon at position 606 (codon 203). In both families the mutant alleles cosegregate with the cancer phenotype. 1-gen-1998 Quaresima, B1; Grandinetti, C; Baudi, F; Tassone, P; Barbieri, V; Conforti, S; Avvedimento, Ev; Costanzo, F; Venuta, S
Transcriptional regulation of the mismatch repair gene hMLH1 1-gen-2001 Quaresima, B; Faniello, C; Baudi, F; Cuda, G; Grandinetti, C; Tassone, P; Costanzo, F; Venuta, S.
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer 1-gen-2001 Baudi, F; Quaresima, B; Grandinetti, C; Cuda, G; Faniello, C; Tassone, P; Barbieri, V; Bisegna, R; Ricevuto, E; Conforti, S; Viel, A; Marchetti, P; Ficorella, C; Radice, P; Costanzo, F; Venuta, S.
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer 1-gen-2002 NYSTROM-LAHTI, M; Perrera, C; Raschle, M; PANYUSHKINA-SEILER, E; Marra, G; Curci, A; Quaresima, B; Costanzo, F; D'Urso, M; Venuta, S; Jiricny, J
An alternative model of H-ferritin promoter transactivation by c-Jun 1-gen-2002 Faniello, C; Chirico, G; Quaresima, B; Cuda, G; Allevato, G; Bevilacqua, M; Baudi, F; Colantuoni, V; Cimino, F; Venuta, S; Avvedimento, Ve; Costanzo, F
BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells 1-gen-2003 Tassone, P; Tagliaferri, P; Perricelli, A; Blotta, S; Quaresima, B; Martelli, Ml; Goel, A; Barbieri, V; Boland, Cr; Venuta, S; Costanzo, F
Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function 1-gen-2003 Quaresima, B; Alifano, P; Tassone, P; Avvedimento, Ev; Costanzo, F; Venuta, S
A novel Q3034R BRCA2 germline mutation identified in a fallopian tube cancer patient 1-gen-2003 Baudi, F; DE PAOLA, L; Quaresima, B; Faniello, C; Fersini, G; Gasparro, S; Fabiani, G; Driul, L; D'Elia, A; Casarsa, S; Marchesoni, D; Damante, G; Cuda, G; Costanzo, F; Venuta, S.
Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetics system to assay MLH1 function 1-gen-2003 Quaresima, B; Alifano, P; Tassone, P; Avvedimento, Ev; Costanzo, Fs; Venuta, S
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