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Results: 1-25 | 26-41
Results: 1-25/41
A COMPREHENSIVE, HIGH-RESOLUTION GENOMIC TRANSCRIPT MAP OF HUMAN SKELETAL-MUSCLE
Authors: BORTOLUZZI S RAMPOLDI L SIMIONATI B ZIMBELLO R BARBON A DALESSI F TISO N PALLAVICINI A TOPPO S CANNATA N VALLE G LANFRANCHI C DANIELI GA
Citation: S. Bortoluzzi et al., A COMPREHENSIVE, HIGH-RESOLUTION GENOMIC TRANSCRIPT MAP OF HUMAN SKELETAL-MUSCLE, PCR methods and applications, 8(8), 1998, pp. 817-825
DOUBLE MISSENSE MUTATION IN EXON-41 OF THE HUMAN DYSTROPHIN GENE DETECTED BY DOUBLE-STRAND CONFORMATION ANALYSIS
Authors: SAAD FA MERLINI L MOSTACCIUOLO ML DANIELI GA
Citation: Fa. Saad et al., DOUBLE MISSENSE MUTATION IN EXON-41 OF THE HUMAN DYSTROPHIN GENE DETECTED BY DOUBLE-STRAND CONFORMATION ANALYSIS, American journal of medical genetics, 80(2), 1998, pp. 99-102
LARGE MAJORITY OF SINGLE-NUCLEOTIDE MUTATIONS ALONG THE DYSTROPHIN GENE CAN BE EXPLAINED BY MORE THAN ONE MECHANISM OF MUTAGENESIS
Authors: TODOROVA A DANIELI GA
Citation: A. Todorova et Ga. Danieli, LARGE MAJORITY OF SINGLE-NUCLEOTIDE MUTATIONS ALONG THE DYSTROPHIN GENE CAN BE EXPLAINED BY MORE THAN ONE MECHANISM OF MUTAGENESIS, Human mutation, 9(6), 1997, pp. 537-547
NOVEL MUTATIONS AND POLYMORPHISM IN THE HUMAN DYSTROPHIN GENE DETECTED BY DOUBLE-STRAND CONFORMATION ANALYSIS
Authors: SAAD FA MOSTACCIUOLO ML TREVISAN CP TOMELLERI G ANGELINI C SALAM EA DANIELI GA
Citation: Fa. Saad et al., NOVEL MUTATIONS AND POLYMORPHISM IN THE HUMAN DYSTROPHIN GENE DETECTED BY DOUBLE-STRAND CONFORMATION ANALYSIS, Human mutation, 9(2), 1997, pp. 188-190
THE PRELIMINARY TRANSCRIPT MAP OF A HUMAN SKELETAL-MUSCLE
Authors: PALLAVICINI A ZIMBELLO R TISO N MURARO T RAMPOLDI L BORTOLUZZI S VALLE G LANFRANCHI G DANIELI GA
Citation: A. Pallavicini et al., THE PRELIMINARY TRANSCRIPT MAP OF A HUMAN SKELETAL-MUSCLE, Human molecular genetics, 6(9), 1997, pp. 1445-1450
MECHANISMS OF MUTAGENESIS ALONG THE DYSTROPHIN GENE
Authors: TODOROVA A KREMENSKY I DANIELI GA
Citation: A. Todorova et al., MECHANISMS OF MUTAGENESIS ALONG THE DYSTROPHIN GENE, The FASEB journal, 11(9), 1997, pp. 511-511
ARVD4, A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY, MAPS TO CHROMOSOME-2 LONG ARM
Authors: RAMPAZZO A NAVA A MIORIN M FONDERICO P POPE B TISO N LIVOLSI B ZIMBELLO R THIENE G DANIELI GA
Citation: A. Rampazzo et al., ARVD4, A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY, MAPS TO CHROMOSOME-2 LONG ARM, Genomics, 45(2), 1997, pp. 259-263
EXON-INTRON ORGANIZATION OF THE HUMAN DYSTROPHIN GENE
Authors: NOBILE C MARCHI J NIGRO V ROBERTS RG DANIELI GA
Citation: C. Nobile et al., EXON-INTRON ORGANIZATION OF THE HUMAN DYSTROPHIN GENE, Genomics, 45(2), 1997, pp. 421-424
CONSERVATION OF A PUTATIVE APL BINDING-SITE AND COMPLETE HOMOLOGY TO A FETAL BRAIN EST IN A REGION UPSTREAM OF THE CORE MUSCLE PROMOTER IN THE HUMAN DYSTROPHIN GENE
Authors: PATARNELLO T KLAMUT HJ DANIELI GA BETTECKEN T FRACASSO C
Citation: T. Patarnello et al., CONSERVATION OF A PUTATIVE APL BINDING-SITE AND COMPLETE HOMOLOGY TO A FETAL BRAIN EST IN A REGION UPSTREAM OF THE CORE MUSCLE PROMOTER IN THE HUMAN DYSTROPHIN GENE, Gene, 200(1-2), 1997, pp. 173-176
CHROMOSOMAL LOCALIZATION OF 4 MAPK SIGNALING CASCADE GENES - MEK1, MEK3, MEK4 AND MEKK5
Authors: RAMPOLDI L ZIMBELLO R BORTOLUZZI S TISO N VALLE G LANFRANCHI G DANIELI GA
Citation: L. Rampoldi et al., CHROMOSOMAL LOCALIZATION OF 4 MAPK SIGNALING CASCADE GENES - MEK1, MEK3, MEK4 AND MEKK5, Cytogenetics and cell genetics, 78(3-4), 1997, pp. 301-303
CHROMOSOME ASSIGNMENT OF 115 EXPRESSED SEQUENCE TAGS (ESTS) FROM HUMAN SKELETAL-MUSCLE
Authors: MURARO T STEPHAN D TISO N ZIMBELLO R DANIELI GA HOFFMAN EH VALLE G LANFRANCHI G
Citation: T. Muraro et al., CHROMOSOME ASSIGNMENT OF 115 EXPRESSED SEQUENCE TAGS (ESTS) FROM HUMAN SKELETAL-MUSCLE, Cytogenetics and cell genetics, 76(3-4), 1997, pp. 144-152
EXTRA-MUSCLE INVOLVEMENT IN DYSTROPHINOPATHIES - AN ELECTRORETINOGRAPHY AND EVOKED-POTENTIAL STUDY
Authors: GIRLANDA P QUARTARONE A BUCETI R SINICROPI S MACAIONE V SAAD FA MESSINA L DANIELI GA FERRERI G VITA G
Citation: P. Girlanda et al., EXTRA-MUSCLE INVOLVEMENT IN DYSTROPHINOPATHIES - AN ELECTRORETINOGRAPHY AND EVOKED-POTENTIAL STUDY, Journal of the neurological sciences, 146(2), 1997, pp. 127-132
FINE MAPPING OF 5 HUMAN SKELETAL-MUSCLE GENES - ALPHA-TROPOMYOSIN, BETA-TROPOMYOSIN, TROPONIN-I SLOW-TWITCH, TROPONIN-I FAST-TWITCH, AND TROPONIN-C FAST
Authors: TISO N RAMPOLDI L PALLAVICINI A ZIMBELLO R PANDOLFO D VALLE G LANFRANCHI G DANIELI GA
Citation: N. Tiso et al., FINE MAPPING OF 5 HUMAN SKELETAL-MUSCLE GENES - ALPHA-TROPOMYOSIN, BETA-TROPOMYOSIN, TROPONIN-I SLOW-TWITCH, TROPONIN-I FAST-TWITCH, AND TROPONIN-C FAST, Biochemical and biophysical research communications, 230(2), 1997, pp. 347-350
MUTATION ANALYSIS IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS FROM BULGARIA SHOWS A PECULIAR DISTRIBUTION OF BREAKPOINTS BY INTRON
Authors: TODOROVA A BRONZOVA J MIORIN P ROSA M KREMENSKY I DANIELI GA
Citation: A. Todorova et al., MUTATION ANALYSIS IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS FROM BULGARIA SHOWS A PECULIAR DISTRIBUTION OF BREAKPOINTS BY INTRON, American journal of medical genetics, 65(1), 1996, pp. 40-43
DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE
Authors: FANIN M FREDA MP VITIELLO L DANIELI GA PEGORARO E ANGELINI C
Citation: M. Fanin et al., DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE, Muscle & nerve, 19(9), 1996, pp. 1154-1160
PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES
Authors: ANGELINI C FANIN M FREDA MP MARTINELLO F MIORIN M MELACINI P SICILIANO G PEGORARO E ROSA M DANIELI GA
Citation: C. Angelini et al., PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES, Journal of the neurological sciences, 142(1-2), 1996, pp. 70-78
MYOCARDIAL INVOLVEMENT IS VERY FREQUENT AMONG PATIENTS AFFECTED WITH SUBCLINICAL BECKERS MUSCULAR-DYSTROPHY
Authors: MELACINI P FANIN M DANIELI GA VILLANOVA C MARTINELLO F MIORIN M FREDA MP MIORELLI M MOSTACCIUOLO ML FASOLI G ANGELINI C DALLAVOLTA S
Citation: P. Melacini et al., MYOCARDIAL INVOLVEMENT IS VERY FREQUENT AMONG PATIENTS AFFECTED WITH SUBCLINICAL BECKERS MUSCULAR-DYSTROPHY, Circulation, 94(12), 1996, pp. 3168-3175
CHROMOSOMAL LOCALIZATION OF THE HUMAN GENES, CPP32, MCH2, MCH3, AND ICH-1, INVOLVED IN CELLULAR APOPTOSIS
Authors: TISO N PALLAVICINI A MURARO T ZIMBELLO R APOLLONI E VALLE G LANFRANCHI G DANIELI GA
Citation: N. Tiso et al., CHROMOSOMAL LOCALIZATION OF THE HUMAN GENES, CPP32, MCH2, MCH3, AND ICH-1, INVOLVED IN CELLULAR APOPTOSIS, Biochemical and biophysical research communications, 225(3), 1996, pp. 983-989
FINE MAPPING OF THE HUMAN ENDOTHELIN-CONVERTING ENZYME GENE BY FLUORESCENT IN-SITU HYBRIDIZATION AND RADIATION HYBRIDS
Authors: ALBERTIN G ROSSI GP MAJONE F TISO N MATTARA A DANIELI GA PESSINA AC PALU G
Citation: G. Albertin et al., FINE MAPPING OF THE HUMAN ENDOTHELIN-CONVERTING ENZYME GENE BY FLUORESCENT IN-SITU HYBRIDIZATION AND RADIATION HYBRIDS, Biochemical and biophysical research communications, 221(3), 1996, pp. 682-687
GENETIC-CONTROL OF THE CD4 CD8 T-CELL RATIO IN HUMANS/
Authors: AMADORI A ZAMARCHI R DESILVESTRO G FORZA G CAVATTON G DANIELI GA CLEMENTI M CHIECOBIANCHI L
Citation: A. Amadori et al., GENETIC-CONTROL OF THE CD4 CD8 T-CELL RATIO IN HUMANS/, Nature medicine, 1(12), 1995, pp. 1279-1283
A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY (ARVD2) MAPS TO CHROMOSOME 1Q42-Q43
Authors: RAMPAZZO A NAVA A ERNE P EBERHARD M VIAN E SLOMP P TISO N THIENE G DANIELI GA
Citation: A. Rampazzo et al., A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY (ARVD2) MAPS TO CHROMOSOME 1Q42-Q43, Human molecular genetics, 4(11), 1995, pp. 2151-2154
DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY
Authors: TOSCANO A VITIELLO L COMI GP GALVAGNI F MIORIN M PRELLE A FORTUNATO F BARDONI A MORA M FIUMARA A FALSAPERLA R TOMELLERI G TONIN P DANIELI GA VITA G
Citation: A. Toscano et al., DUPLICATION OF DYSTROPHIN GENE AND DISSIMILAR CLINICAL PHENOTYPE IN THE SAME FAMILY, Neuromuscular disorders, 5(6), 1995, pp. 475-481
FREQUENCY OF DUPLICATION AT 17P11.2 IN FAMILIES OF NORTHEAST ITALY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1
Authors: MOSTACCIUOLO ML SCHIAVON F ANGELINI C NICCOLI B PICCOLO F DANIELI GA
Citation: Ml. Mostacciuolo et al., FREQUENCY OF DUPLICATION AT 17P11.2 IN FAMILIES OF NORTHEAST ITALY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1, Neuroepidemiology, 14(2), 1995, pp. 49-53
DYSTROPHIN POSITIVE FIBERS IN DUCHENNE DYSTROPHY - ORIGIN AND CORRELATION TO CLINICAL COURSE
Authors: FANIN M DANIELI GA CADALDINI M MIORIN M VITIELLO L ANGELINI C
Citation: M. Fanin et al., DYSTROPHIN POSITIVE FIBERS IN DUCHENNE DYSTROPHY - ORIGIN AND CORRELATION TO CLINICAL COURSE, Muscle & nerve, 18(10), 1995, pp. 1115-1120
POINT MUTATIONS IN MUSCLE PROMOTER REGION OF DYSTROPHIN GENE ASSOCIATED WITH CARDIOPATHY AND MYOGLOBINURIA
Authors: BARTOLONI L FANIN M FREDA MP DANIELI GA ANGELINI C
Citation: L. Bartoloni et al., POINT MUTATIONS IN MUSCLE PROMOTER REGION OF DYSTROPHIN GENE ASSOCIATED WITH CARDIOPATHY AND MYOGLOBINURIA, Neurology, 45(4), 1995, pp. 181-182
Risultati: 1-25 | 26-41