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PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998)
Authors: MANDICH P JACOPINI G DIMARIA E SABBADINI G ABBRUZZESE G CHIMIRRI F BELLONE E NOVELLETTO A AJMAR F FRONTALI M
Citation: P. Mandich et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS (VOL 19, PG 68, 1998), Italian journal of neurological sciences, 19(3), 1998, pp. 149-149
PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS
Authors: MANDICH P JACOPINI G DIMARIA E SABBADINI G CHIMIRRI F BELLONE E NOVELLETTO A AJMAR F FRONTALI M
Citation: P. Mandich et al., PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE - 10 YEARS EXPERIENCE IN 2ITALIAN CENTERS, Italian journal of neurological sciences, 19(2), 1998, pp. 68-74
A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS
Authors: SQUITIERI F GELLERA C RUGGIERI S CASTELLOTTI B FRONTALI M MANDICH P NACMIAS B DELSENNO L RAGONA G DIDONATO P AJMAR F FRATI L NOVELLETTO A
Citation: F. Squitieri et al., A MODEL TO PREDICT THE ONSET AGE IN UNAFFECTED HUNTINGTONS-DISEASE MUTATION CARRIERS, Annals of neurology, 44(3), 1998, pp. 65-65
NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION
Authors: MALASPINA P CRUCIANI F CIMINELLI BM TERRENATO L SANTOLAMAZZA P ALONSO A BANYKO J BRDICKA R GARCIA O GAUDIANO C GUANTI G KIDD KK LAVINHA J AVILA M MANDICH P MORAL P QAMAR R MEHDI SQ RAGUSA A SEFANESCU G CARAGHIN M TYLERSMITH C SCOZZARI R NOVELLETTO A
Citation: P. Malaspina et al., NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION, American journal of human genetics, 63(3), 1998, pp. 847-860
2 EXON-SKIPPING MUTATIONS AS THE MOLECULAR-BASIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA)
Authors: CHAMBLISS KL HINSON DD TRETTEL F MALASPINA P NOVELLETTO A JAKOBS C GIBSON KM
Citation: Kl. Chambliss et al., 2 EXON-SKIPPING MUTATIONS AS THE MOLECULAR-BASIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA), American journal of human genetics, 63(2), 1998, pp. 399-408
ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN SOMATIC AND SPERM CELL-DNA FROM INTERMEDIATE AND EXPANDED HUNTINGTON-DISEASE GENE CARRIERS
Authors: GIOVANNONE B SABBADINI G DIMAIO L CALABRESE O CASTALDO I FRONTALI M NOVELLETTO A SQUITIERI F
Citation: B. Giovannone et al., ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN SOMATIC AND SPERM CELL-DNA FROM INTERMEDIATE AND EXPANDED HUNTINGTON-DISEASE GENE CARRIERS, Human mutation, 10(6), 1997, pp. 458-464
Y-CHROMOSOME STR LOCI IN SARDINIA AND CONTINENTAL ITALY REVEAL ISLANDER-SPECIFIC HAPLOTYPES
Authors: CAGLIA A NOVELLETTO A DOBOSZ M MALASPINA P CIMINELLI BM PASCALI VL
Citation: A. Caglia et al., Y-CHROMOSOME STR LOCI IN SARDINIA AND CONTINENTAL ITALY REVEAL ISLANDER-SPECIFIC HAPLOTYPES, European journal of human genetics, 5(5), 1997, pp. 288-292
REDUCED PENETRANCE OF THE HUNTINGTONS-DISEASE MUTATION
Authors: MCNEIL SM NOVELLETTO A SRINIDHI J BARNES G KORNBLUTH I ALTHERR MR WASMUTH JJ GUSELLA JF MACDONALD ME MYERS RH
Citation: Sm. Mcneil et al., REDUCED PENETRANCE OF THE HUNTINGTONS-DISEASE MUTATION, Human molecular genetics, 6(5), 1997, pp. 775-779
ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN DNA FROM SOMATIC AND GERM-CELLS OF NORMAL, INTERMEDIATE AND EXPANDED HUNTINGTON DISEASE GENE CARRIERS
Authors: SQUITIERI F GIOVANNONE B SABBADINI G FRONTALI M NOVELLETTO A DIMAIO L CALABRESE O CASTALDO I CAMPANELLA G
Citation: F. Squitieri et al., ANALYSIS OF (CAG)N SIZE HETEROGENEITY IN DNA FROM SOMATIC AND GERM-CELLS OF NORMAL, INTERMEDIATE AND EXPANDED HUNTINGTON DISEASE GENE CARRIERS, Neurology, 48(3), 1997, pp. 3075-3075
CHARACTERIZATION OF A SMALL FAMILY (CAIII) OF MICROSATELLITE-CONTAINING SEQUENCES WITH X-Y HOMOLOGY
Authors: MALASPINA P CIMINELLI BM VIGGIANO L JODICE C CRUCIANI F SANTOLAMAZZA P SELLITTO D SCOZZARI R TERRENATO L ROCCHI M NOVELLETTO A
Citation: P. Malaspina et al., CHARACTERIZATION OF A SMALL FAMILY (CAIII) OF MICROSATELLITE-CONTAINING SEQUENCES WITH X-Y HOMOLOGY, Journal of molecular evolution, 44(6), 1997, pp. 652-659
THE GEOGRAPHIC-DISTRIBUTION OF HUMAN Y-CHROMOSOME VARIATION
Authors: HAMMER MF SPURDLE AB KARAFET T BONNER MR WOOD ET NOVELLETTO A MALASPINA P MITCHELL RJ HORAI S JENKINS T ZEGURA SL
Citation: Mf. Hammer et al., THE GEOGRAPHIC-DISTRIBUTION OF HUMAN Y-CHROMOSOME VARIATION, Genetics, 145(3), 1997, pp. 787-805
POPULATION VARIATION ANALYSIS AT 9 LOCI CONTAINING EXPRESSED TRINUCLEOTIDE REPEATS
Authors: JODICE C GIOVANNONE B CALABRESI V BELLOCCHI M TERRENATO L NOVELLETTO A
Citation: C. Jodice et al., POPULATION VARIATION ANALYSIS AT 9 LOCI CONTAINING EXPRESSED TRINUCLEOTIDE REPEATS, Annals of Human Genetics, 61, 1997, pp. 425-438
DIFFERENTIAL STRUCTURING OF HUMAN-POPULATIONS FOR HOMOLOGOUS-X AND HOMOLOGOUS-Y MICROSATELLITE LOCI
Authors: SCOZZARI R CRUCIANI F MALASPINA P SANTOLAMAZZA P CIMINELLI BM TORRONI A MODIANO D WALLACE DC KIDD KK OLCKERS A MORAL P TERRENATO L AKAR N QAMAR R MANSOOR A MEHDI SQ MELONI G VONA G COLE DEC CAI WW NOVELLETTO A
Citation: R. Scozzari et al., DIFFERENTIAL STRUCTURING OF HUMAN-POPULATIONS FOR HOMOLOGOUS-X AND HOMOLOGOUS-Y MICROSATELLITE LOCI, American journal of human genetics, 61(3), 1997, pp. 719-733
ORDERING OF 44 GENETIC-MARKERS IN THE 6P22 CYTOGENETIC BAND
Authors: TRETTEL F MALASPINA P BLASI P JODICE C NOVELLETTO A SABBADINI G VENEZIANO L FRONTALI M TERRENATO L
Citation: F. Trettel et al., ORDERING OF 44 GENETIC-MARKERS IN THE 6P22 CYTOGENETIC BAND, DNA sequence, 7(1), 1996, pp. 51-52
HUNTINGTONS-DISEASE
Authors: GUSELLA JF MCNEIL S PERSICHETTI F SRINIDHI J NOVELLETTO A BIRD E FABER P VONSATTEL JP MYERS RH MACDONALD ME
Citation: Jf. Gusella et al., HUNTINGTONS-DISEASE, Cold Spring Harbor Symposia on Quantitative Biology, 61, 1996, pp. 615-626
GENETIC FITNESS IN HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA-1 -A POPULATION-GENETICS MODEL FOR CAG REPEAT EXPANSIONS
Authors: FRONTALI M SABBADINI G NOVELLETTO A JODICE C NASO F SPADARO M GIUNTI P JACOPINI AG VENEZIANO L MANTUANO E MALASPINA P ULIZZI L BRICE A DURR A TERRENATO L
Citation: M. Frontali et al., GENETIC FITNESS IN HUNTINGTONS-DISEASE AND SPINOCEREBELLAR ATAXIA-1 -A POPULATION-GENETICS MODEL FOR CAG REPEAT EXPANSIONS, Annals of Human Genetics, 60, 1996, pp. 423-435
PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS
Authors: RUBINSZTEIN DC LEGGO J COLES R ALMQVIST E BIANCALANA V CASSIMAN JJ CHOTAI K CONNARTY M CRAUFURD D CURTIS A CURTIS D DAVIDSON MJ DIFFER AM DODE C DODGE A FRONTALI M RANEN NG STINE OC SHERR M ABBOTT MH FRANZ ML GRAHAM CA HARPER PS HEDREEN JC JACKSON A KAPLAN JC LOSEKOOT M MACMILLAN JC MORRISON P TROTTIER Y NOVELLETTO A SIMPSON SA THEILMANN J WHITTAKER JL FOLSTEIN SE ROSS CA HAYDEN MR
Citation: Dc. Rubinsztein et al., PHENOTYPIC CHARACTERIZATION OF INDIVIDUALS WITH 30-40 CAG REPEATS IN THE HUNTINGTON DISEASE (HD) GENE REVEALS HD CASES WITH 36 REPEATS AND APPARENTLY NORMAL ELDERLY INDIVIDUALS WITH 36-39 REPEATS, American journal of human genetics, 59(1), 1996, pp. 16-22
ANALYSIS OF BETA-THALASSEMIA MUTATIONS IN THE UNITED-ARAB-EMIRATES PROVIDES EVIDENCE FOR RECURRENT ORIGIN OF THE IVSI NT-5 (G-C) MUTATION
Authors: DELEO R DEIDDA G NOVELLETTO A ELKALLA S MATHEWS AR FELICETTI L
Citation: R. Deleo et al., ANALYSIS OF BETA-THALASSEMIA MUTATIONS IN THE UNITED-ARAB-EMIRATES PROVIDES EVIDENCE FOR RECURRENT ORIGIN OF THE IVSI NT-5 (G-C) MUTATION, Human mutation, 5(4), 1995, pp. 327-328
RECURRENT SIMPLE TANDEM REPEAT MUTATIONS DURING HUMAN Y-CHROMOSOME RADIATION IN CAUCASIAN SUBPOPULATIONS
Authors: CIMINELLI BM POMPEI F MALASPINA P HAMMER M PERSICHETTI F PIGNATTI P PALENA A ANAGNOU N GUANTI G JODICE C TERRENATO L NOVELLETTO A
Citation: Bm. Ciminelli et al., RECURRENT SIMPLE TANDEM REPEAT MUTATIONS DURING HUMAN Y-CHROMOSOME RADIATION IN CAUCASIAN SUBPOPULATIONS, Journal of molecular evolution, 41(6), 1995, pp. 966-973
EXPANSION OF A (CAG)N REPEAT REGION IN A SPORADIC CASE OF HD
Authors: BOZZA A MALAGU S CALZOLARI E NOVELLETTO A PAVONI M DELSENNO L
Citation: A. Bozza et al., EXPANSION OF A (CAG)N REPEAT REGION IN A SPORADIC CASE OF HD, Acta neurologica Scandinavica, 92(2), 1995, pp. 132-134
POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Authors: NOVELLETTO A PERSICHETTI F SABBADINI G MANDICH P BELLONE E AJMAR F SQUITIERI F CAMPANELLA G BOZZA A MACDONALD ME GUSELLA JF FRONTALI M
Citation: A. Novelletto et al., POLYMORPHISM ANALYSIS OF THE HUNTINGTIN GENE IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE, Human molecular genetics, 3(7), 1994, pp. 1129-1132
ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE
Authors: NOVELLETTO A PERSICHETTI F SABBADINI G MANDICH P BELLONE E AJMAR F PERGOLA M DELSENNO L MACDONALD ME GUSELLA JF FRONTALI M
Citation: A. Novelletto et al., ANALYSIS OF THE TRINUCLEOTIDE REPEAT EXPANSION IN ITALIAN FAMILIES AFFECTED WITH HUNTINGTON DISEASE, Human molecular genetics, 3(1), 1994, pp. 93-98
TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: HARDING AE GIUNTI P SWEENEY MG SPADARO M JODICE C NOVELLETTO A MALASPINA P FRONTALI M
Citation: Ae. Harding et al., TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Annals of neurology, 36(2), 1994, pp. 260-260
CHROMOSOME 4Q35 HAPLOTYPES AND DNA REARRANGEMENTS SEGREGATING IN AFFECTED SUBJECTS OF 19 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)
Authors: CACURRI S DEIDDA G PIAZZO N NOVELLETTO A LACESA I SERVIDEI S GALLUZZI G WIJMENGA C FRANTS RR FELICETTI L
Citation: S. Cacurri et al., CHROMOSOME 4Q35 HAPLOTYPES AND DNA REARRANGEMENTS SEGREGATING IN AFFECTED SUBJECTS OF 19 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD), Human genetics, 94(4), 1994, pp. 367-374
THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS
Authors: GIUNTI P SWEENEY MG SPADARO M JODICE C NOVELLETTO A MALASPINA P FRONTALI M HARDING AE
Citation: P. Giunti et al., THE TRINUCLEOTIDE REPEAT EXPANSION ON CHROMOSOME 6P (SCA1) IN AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS, Brain, 117, 1994, pp. 645-649
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