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Results: 1-25 | 26-26
Results: 1-25/26
FURTHER DELINEATION OF THE MOLECULAR PATHOLOGY OF WILSON-DISEASE IN THE MEDITERRANEAN POPULATION
Authors: LOUDIANOS G DESSI V LOVICU M ANGIUS A NURCHI A STURNIOLO GC MARCELLINI M ZANCAN L BRAGETTI P AKAR N YAGCI R VEGNENTE A CAO A PIRASTU M
Citation: G. Loudianos et al., FURTHER DELINEATION OF THE MOLECULAR PATHOLOGY OF WILSON-DISEASE IN THE MEDITERRANEAN POPULATION, Human mutation, 12(2), 1998, pp. 89-94
HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE
Authors: LOUDIANOS G DESSI V LOVICU M ANGIUS A KANAVAKIS E TZETIS M KATTAMIS C MANOLAKI N VASSILIKI G KARPATHIOS T CAO A PIRASTU M
Citation: G. Loudianos et al., HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE, European journal of human genetics, 6(5), 1998, pp. 487-491
EARLY AND SEVERE NEUROLOGICAL FEATURES IN A WILSON-DISEASE PATIENT COMPOUND HETEROZYGOUS FOR 2 FRAMESHIFT MUTATIONS
Authors: ANGIUS A DESSI V LOVICU M DEVIRGILIIS S PIRASTU M CAO A
Citation: A. Angius et al., EARLY AND SEVERE NEUROLOGICAL FEATURES IN A WILSON-DISEASE PATIENT COMPOUND HETEROZYGOUS FOR 2 FRAMESHIFT MUTATIONS, European journal of pediatrics, 157(2), 1998, pp. 128-129
NUMERICAL ABNORMALITIES OF CHROMOSOME-1 AND CHROMOSOME-10 IN ENDOMETRIAL ADENOCARCINOMA - FLUORESCENCE-IN-SITU-HYBRIDIZATION ANALYSIS OF 23ARCHIVAL PARAFFIN-EMBEDDED SAMPLES
Authors: MURESU R COSSU A SCARPA AM VOLPI EV ROCCA PC PINTUS A TIBILETTI MG TANDA F PIRASTU M MASSARELLI G
Citation: R. Muresu et al., NUMERICAL ABNORMALITIES OF CHROMOSOME-1 AND CHROMOSOME-10 IN ENDOMETRIAL ADENOCARCINOMA - FLUORESCENCE-IN-SITU-HYBRIDIZATION ANALYSIS OF 23ARCHIVAL PARAFFIN-EMBEDDED SAMPLES, Cancer genetics and cytogenetics, 107(1), 1998, pp. 37-42
A NOVEL MUTATION IN THE GLC1A GENE CAUSES JUVENILE OPEN-ANGLE GLAUCOMA IN 4 FAMILIES FROM THE ITALIAN REGION OF PUGLIA
Authors: ANGIUS A DEGIOIA E LOI A FOSSARELLO M SOLE G ORZALESI N GRIGNOLO F CAO A PIRASTU M
Citation: A. Angius et al., A NOVEL MUTATION IN THE GLC1A GENE CAUSES JUVENILE OPEN-ANGLE GLAUCOMA IN 4 FAMILIES FROM THE ITALIAN REGION OF PUGLIA, Archives of ophthalmology, 116(6), 1998, pp. 793-797
THE -75A-]C SUBSTITUTION IN THE 5'-UTR OF THE WILSON DISEASE GENE IS A SEQUENCE POLYMORPHISM IN THE MEDITERRANEAN POPULATION
Authors: LOUDIANOS G DESSI V LOVICU M ANGIUS A CAO A PIRASTU M
Citation: G. Loudianos et al., THE -75A-]C SUBSTITUTION IN THE 5'-UTR OF THE WILSON DISEASE GENE IS A SEQUENCE POLYMORPHISM IN THE MEDITERRANEAN POPULATION, American journal of human genetics, 62(2), 1998, pp. 484-484
RAT TYROSINE-HYDROXYLASE GENE POLYMORPHISMS
Authors: MURRU S PANI L PODDIE D GESSA G CAO A PIRASTU M
Citation: S. Murru et al., RAT TYROSINE-HYDROXYLASE GENE POLYMORPHISMS, Molecular brain research, 45(2), 1997, pp. 345-348
GENETIC-MAPPING OF AUTOSOMAL-DOMINANT PRIMARY OPEN-ANGLE GLAUCOMA (POAG) IN SARDINIA
Authors: FOSSARELLO M ZUCCA I GALANTUOMO S SERRA A PIRASTU M LOI A SOLE G CAO A
Citation: M. Fossarello et al., GENETIC-MAPPING OF AUTOSOMAL-DOMINANT PRIMARY OPEN-ANGLE GLAUCOMA (POAG) IN SARDINIA, International ophtalmology, 20(1-3), 1997, pp. 1-5
CLINICAL AND GENETIC-HETEROGENEITY OF AUTOSOMAL-DOMINANT OPEN-ANGLE GLAUCOMA (ADOAG) IN ITALY
Authors: PIRASTU M LOI A DEGIOIA E SPINELLI P ANGIUS A NIZZOLA F ALBERTI G GANDOLFI S GHILLOTTI G FOSSARELLO M
Citation: M. Pirastu et al., CLINICAL AND GENETIC-HETEROGENEITY OF AUTOSOMAL-DOMINANT OPEN-ANGLE GLAUCOMA (ADOAG) IN ITALY, Investigative ophthalmology & visual science, 38(4), 1997, pp. 2680-2680
CHROMOSOME 10Q ALLELIC DELETION IN ENDOMETRIAL CARCINOMA
Authors: COSSU A MANCA A IBBA M MURESU R PINTUS A SCARPA A MASSARELLI G PIRASTU M
Citation: A. Cossu et al., CHROMOSOME 10Q ALLELIC DELETION IN ENDOMETRIAL CARCINOMA, Laboratory investigation, 76(1), 1997, pp. 564-564
WILSON DISEASE MUTATIONS ASSOCIATED WITH UNCOMMON HAPLOTYPES IN MEDITERRANEAN PATIENTS
Authors: LOUDIANOS G DESSI V ANGIUS A LOVICU M LOI A DEIANA M AKAR N VAJRO P FIGUS A CAO A PIRASTU M
Citation: G. Loudianos et al., WILSON DISEASE MUTATIONS ASSOCIATED WITH UNCOMMON HAPLOTYPES IN MEDITERRANEAN PATIENTS, Human genetics, 98(6), 1996, pp. 640-642
A NEW MISSENSE MUTATION IN THE GLUCOKINASE GENE IN AN ITALIAN MODY FAMILY
Authors: BERTINI C MAIOLI M FRESU P TONOLO G PIRASTU M MAIOLI M
Citation: C. Bertini et al., A NEW MISSENSE MUTATION IN THE GLUCOKINASE GENE IN AN ITALIAN MODY FAMILY, Diabetologia, 39(11), 1996, pp. 1413-1414
A NEW MISSENSE MUTATION IN THE GLUCOKINASE GENE IN AN ITALIAN MODY FAMILY
Authors: MAIOLI M BERTINI C MAIOLI M FRESU P TONOLO G PIRASTU M
Citation: M. Maioli et al., A NEW MISSENSE MUTATION IN THE GLUCOKINASE GENE IN AN ITALIAN MODY FAMILY, Diabetologia, 39, 1996, pp. 269-269
A NEW MISSENSE MUTATION IN THE GLUCOKINASE GENE IN A SARDINIAN MODY FAMILY
Authors: MAIOLI M BERTINI C MAIOLI M FRESU P PIRASTU M CICCARESE M TONOLO G
Citation: M. Maioli et al., A NEW MISSENSE MUTATION IN THE GLUCOKINASE GENE IN A SARDINIAN MODY FAMILY, Diabetes, 45, 1996, pp. 282-282
DELETION IN THE PERIPHERIN RDS GENE IN 2 UNRELATED SARDINIAN FAMILIESWITH AUTOSOMAL-DOMINANT BUTTERFLY-SHAPED MACULAR DYSTROPHY
Authors: FOSSARELLO M BERTINI C GALANTUOMO MS CAO A SERRA A PIRASTU M
Citation: M. Fossarello et al., DELETION IN THE PERIPHERIN RDS GENE IN 2 UNRELATED SARDINIAN FAMILIESWITH AUTOSOMAL-DOMINANT BUTTERFLY-SHAPED MACULAR DYSTROPHY, Archives of ophthalmology, 114(4), 1996, pp. 448-456
MOLECULAR PATHOLOGY AND HAPLOTYPE ANALYSIS OF WILSON DISEASE IN MEDITERRANEAN POPULATIONS
Authors: FIGUS A ANGIUS A LOUDIANOS G BERTINI C DESSI V LOI A DEIANA M LOVICU M OLLA N SOLE G DEVIRGILIIS S LILLIU F FARCI AMG NURCHI A GIACCHINO R BARABINO A MARAZZI M ZANCAN L GREGGIO NA MARCELLINI M SOLINAS A DEPLANO A BARBERA C DEVOTO M OZSOYLU S KOCAK N AKAR N KARAYALCIN S MOKINI V CULLUFI P BALESTRIERI A CAO A PIRASTU M
Citation: A. Figus et al., MOLECULAR PATHOLOGY AND HAPLOTYPE ANALYSIS OF WILSON DISEASE IN MEDITERRANEAN POPULATIONS, American journal of human genetics, 57(6), 1995, pp. 1318-1324
A DNA FRAGMENT FROM XQ21 REPLACES A DELETED REGION CONTAINING THE ENTIRE FVIII GENE IN A SEVERE HEMOPHILIA-A PATIENT
Authors: MURRU S CASULA L CASARINO L MOI P ROCCHI M LOI A FIGUS A MANNELLA M PODDIE D KENWRICK S MORI P CAO A PIRASTU M
Citation: S. Murru et al., A DNA FRAGMENT FROM XQ21 REPLACES A DELETED REGION CONTAINING THE ENTIRE FVIII GENE IN A SEVERE HEMOPHILIA-A PATIENT, Genomics, 23(2), 1994, pp. 352-361
A NOVEL MEDITERRANEAN DELTA-BETA-THALASSEMIA DETERMINANT CONTAINING THE DELTA-DEGREES-39 POINT MUTATIONS IN CIS(27 AND BETA)
Authors: OGGIANO L GUISO L FROGHERI L LOUDIANOS G PISTIDDA P RIMINI E PIRASTU M CAO A LONGINOTTI M
Citation: L. Oggiano et al., A NOVEL MEDITERRANEAN DELTA-BETA-THALASSEMIA DETERMINANT CONTAINING THE DELTA-DEGREES-39 POINT MUTATIONS IN CIS(27 AND BETA), American journal of hematology, 45(1), 1994, pp. 81-84
IMPROVEMENT OF PRENATAL-DIAGNOSIS OF WILSON DISEASE USING MICROSATELLITE MARKERS
Authors: LOUDIANOS G FIGUS AL LOI A ANGIUS A DESSI V DEIANA M DEVIRGILIIS S MONNI G CAO A PIRASTU M
Citation: G. Loudianos et al., IMPROVEMENT OF PRENATAL-DIAGNOSIS OF WILSON DISEASE USING MICROSATELLITE MARKERS, Prenatal diagnosis, 14(10), 1994, pp. 999-1002
MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE
Authors: PETRUKHIN K FISCHER SG PIRASTU M TANZI RE CHERNOV I DEVOTO M BRZUSTOWICZ LM CAYANIS E VITALE E RUSSO JJ MATSEOANE D BOUKHGALTER B WASCO W FIGUS AL LOUDIANOS J CAO A STERNLIEB I EVGRAFOV O PARANO E PAVONE L WARBURTON D OTT J PENCHASZADEH GK SCHEINBERG IH GILLIAM TC
Citation: K. Petrukhin et al., MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE, Nature genetics, 5(4), 1993, pp. 338-343
THE WILSON DISEASE GENE IS A COPPER TRANSPORTING ATPASE WITH HOMOLOGYTO THE MENKES DISEASE GENE
Authors: TANZI RE PETRUKHIN K CHERNOV I PELLEQUER JL WASCO W ROSS B ROMANO DM PARANO E PAVONE L BRZUSTOWICZ LM DEVOTO M PEPPERCORN J BUSH AI STERNLIEB I PIRASTU M GUSELLA JF EVGRAFOV O PENCHASZADEH GK HONIG B EDELMAN IS SOARES MB SCHEINBERG IH GILLIAM TC
Citation: Re. Tanzi et al., THE WILSON DISEASE GENE IS A COPPER TRANSPORTING ATPASE WITH HOMOLOGYTO THE MENKES DISEASE GENE, Nature genetics, 5(4), 1993, pp. 344-350
A NEW DELTA-CHAIN VARIANT HEMOGLOBIN-A(2)-PUGLIA OR ALPHA(2)DELTA(2)26GLU-!ASP(B8), DETECTED BY DNA ANALYSIS IN A FAMILY OF SOUTHERN ITALIAN ORIGIN
Authors: LOUDIANOS G PORCU S COSSU P TANNOIA N VITUCCI A CAMPANALE D CAO A PIRASTU M
Citation: G. Loudianos et al., A NEW DELTA-CHAIN VARIANT HEMOGLOBIN-A(2)-PUGLIA OR ALPHA(2)DELTA(2)26GLU-!ASP(B8), DETECTED BY DNA ANALYSIS IN A FAMILY OF SOUTHERN ITALIAN ORIGIN, Human mutation, 2(4), 1993, pp. 327-329
A PROMOTER MUTATION OF THE BETA-GLOBIN GENE (-101-C-]T) HAS AN AGE-RELATED EXPRESSION PATTERN
Authors: MURRU S PISCHEDDA MC CAO A ROSATELLI MC PIRASTU M SCIARRATTA GV
Citation: S. Murru et al., A PROMOTER MUTATION OF THE BETA-GLOBIN GENE (-101-C-]T) HAS AN AGE-RELATED EXPRESSION PATTERN, Blood, 81(10), 1993, pp. 2818-2819
MAPPING THE WILSONS-DISEASE GENE
Authors: PETRUHKIN K TANZI RE FISCHER S PIRASTU M CHERNOV I BOUKHGALTER B CYANIS E WASCO W BRZUSTOWICZ LM MATSEOANE D DEVOTO M FIGLIS AL LOLIDIHNOS J CAO A CHUMAKOV I EVGRAFOV G STERNLIEB I WARBURTON D PENCHASZADEH G SCHEINBERG IH GILLIAM TC
Citation: K. Petruhkin et al., MAPPING THE WILSONS-DISEASE GENE, American journal of human genetics, 53(3), 1993, pp. 55-55
ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR WILSONS-DISEASE
Authors: TANZI RE PETRUHKIN K SOARES B WASCO W ROMANO D ROSS B CHERNOV I PIRASTU M HYSLOP PG GUSELLA JF SCHEINBERG IH GILLIAM TC
Citation: Re. Tanzi et al., ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR WILSONS-DISEASE, American journal of human genetics, 53(3), 1993, pp. 228-228
Risultati: 1-25 | 26-26