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Results: 1-13 |
Results: 13
INTERCHROMOSOMAL AND INTRACHROMOSOMAL SUB-TELOMERIC REARRANGEMENTS ON4Q35 - IMPLICATIONS FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)ETIOLOGY AND DIAGNOSIS
Authors: LEMMERS RJLF VANDERMAAREL SM VANDEUTEKOM JCT VANDERWIELEN MJR DEIDDA G DAUWERSE HG HEWITT J HOFKER M BAKKER E PADBERG GW FRANTS RR
Citation: Rjlf. Lemmers et al., INTERCHROMOSOMAL AND INTRACHROMOSOMAL SUB-TELOMERIC REARRANGEMENTS ON4Q35 - IMPLICATIONS FOR FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)ETIOLOGY AND DIAGNOSIS, Human molecular genetics (Print), 7(8), 1998, pp. 1207-1214
SEQUENCE HOMOLOGY BETWEEN 4QTER AND 10QTER LOCI FACILITATES THE INSTABILITY OF SUBTELOMERIC KPNI REPEAT UNITS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: CACURRI S PIAZZO N DEIDDA G VIGNETI E GALLUZZI G COLANTONI L MERICO B RICCI E FELICETTI L
Citation: S. Cacurri et al., SEQUENCE HOMOLOGY BETWEEN 4QTER AND 10QTER LOCI FACILITATES THE INSTABILITY OF SUBTELOMERIC KPNI REPEAT UNITS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, American journal of human genetics, 63(1), 1998, pp. 181-190
PHENOTYPES OF INDIVIDUALS WITH A BETA-THAL CLASSICAL ALLELE ASSOCIATED EITHER WITH A BETA-THAL SILENT ALLELE OR WITH ALPHA-GLOBIN GENE TRIPLICATION
Authors: BIANCO I LERONE M FOGLIETTA E DEIDDA G CAPPABIANCA MP MORLUPI L PONZINI D GRISANTI P DIBIAGIO P AMATO A MEZZABOTTA M GRAZIANI B
Citation: I. Bianco et al., PHENOTYPES OF INDIVIDUALS WITH A BETA-THAL CLASSICAL ALLELE ASSOCIATED EITHER WITH A BETA-THAL SILENT ALLELE OR WITH ALPHA-GLOBIN GENE TRIPLICATION, Haematologica, 82(5), 1997, pp. 513-525
SILENT THALASSEMIAS - GENOTYPES AND PHENOTYPES
Authors: BIANCO I CAPPABIANCA MP FOGLIETTA E LERONE M DEIDDA G MORLUPI L GRISANTI P PONZINI D RINALDI S GRAZIANI B
Citation: I. Bianco et al., SILENT THALASSEMIAS - GENOTYPES AND PHENOTYPES, Haematologica, 82(3), 1997, pp. 269-280
A SIMPLE AND RELIABLE TEST FOR THE MOLECULAR DIAGNOSIS OF FSHD
Authors: RICCI E DEIDDA G CACURRI S GALLUZZI G PIAZZO N MERICO B COLANTONI L DEROSA G SERVIDEI S TONALI P FELICETTI L
Citation: E. Ricci et al., A SIMPLE AND RELIABLE TEST FOR THE MOLECULAR DIAGNOSIS OF FSHD, Neurology, 48(3), 1997, pp. 21002-21002
SEQUENCE HOMOLOGY BETWEEN 4QTER AND 10QTER LOCI FAVORS THE OCCURRENCEOF INTERCHROMOSOMAL EXCHANGES AND THE INSTABILITY OF SUBTELOMERIC KPNL REPEATS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)
Authors: CACURRI S DEIDDA G PIAZZO N GALUZZI G COLANTONI L RICCI E MERICO B FELICETTI L
Citation: S. Cacurri et al., SEQUENCE HOMOLOGY BETWEEN 4QTER AND 10QTER LOCI FAVORS THE OCCURRENCEOF INTERCHROMOSOMAL EXCHANGES AND THE INSTABILITY OF SUBTELOMERIC KPNL REPEATS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD), American journal of human genetics, 61(4), 1997, pp. 963-963
DETECTION OF ALPHA-GLOBIN GENE DISORDERS BY A SIMPLE PCR METHODOLOGY
Authors: FOGLIETTA E DEIDDA G GRAZIANI B MODIANO G BIANCO I
Citation: E. Foglietta et al., DETECTION OF ALPHA-GLOBIN GENE DISORDERS BY A SIMPLE PCR METHODOLOGY, Haematologica, 81(5), 1996, pp. 387-396
DIRECT-DETECTION OF 4Q35 REARRANGEMENTS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)
Authors: DEIDDA G CACURRI S PIAZZO N FELICETTI L
Citation: G. Deidda et al., DIRECT-DETECTION OF 4Q35 REARRANGEMENTS IMPLICATED IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD), Journal of Medical Genetics, 33(5), 1996, pp. 361-365
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
PHYSICAL MAPPING EVIDENCE FOR A DUPLICATED REGION ON CHROMOSOME 10QTER SHOWING HIGH HOMOLOGY WITH THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY LOCUS ON CHROMOSOME 4QTER
Authors: DEIDDA G CACURRI S GRISANTI P VIGNETI E PIAZZO N FELICETTI L
Citation: G. Deidda et al., PHYSICAL MAPPING EVIDENCE FOR A DUPLICATED REGION ON CHROMOSOME 10QTER SHOWING HIGH HOMOLOGY WITH THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY LOCUS ON CHROMOSOME 4QTER, European journal of human genetics, 3(3), 1995, pp. 155-167
PHYSICAL MAPPING EVIDENCE FOR A DUPLICATED REGION ON CHROMOSOME 10QTER SHOWING HIGH HOMOLOGY WITH THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) LOCUS ON CHROMOSOME 4QTER
Authors: DEIDDA G CACURRI S GRISANTI P VIGNETI E PIAZZO N FELICETTI L
Citation: G. Deidda et al., PHYSICAL MAPPING EVIDENCE FOR A DUPLICATED REGION ON CHROMOSOME 10QTER SHOWING HIGH HOMOLOGY WITH THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) LOCUS ON CHROMOSOME 4QTER, American journal of human genetics, 57(4), 1995, pp. 1498-1498
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
4Q35 DNA REARRANGEMENTS DETECTED BY PROBE P13E-11 IN THE AFFECTED SUBJECTS OF 15 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: FELICETTI L CACURRI S DEIDDA G PIAZZO N LACESA I GRISANTI P
Citation: L. Felicetti et al., 4Q35 DNA REARRANGEMENTS DETECTED BY PROBE P13E-11 IN THE AFFECTED SUBJECTS OF 15 ITALIAN FAMILIES WITH FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, American journal of human genetics, 53(3), 1993, pp. 999-999
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