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Results: 1-17 |
Results: 17
A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM
Authors: MACHKHAS H BIDICHANDANI SI PATEL PI HARATI Y
Citation: H. Machkhas et al., A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM, Muscle & nerve, 21(3), 1998, pp. 390-393
THE GAA TRIPLET-REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE
Authors: BIDICHANDANI SI ASHIZAWA T PATEL PI
Citation: Si. Bidichandani et al., THE GAA TRIPLET-REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE, American journal of human genetics, 62(1), 1998, pp. 111-121
FRATAXIN FRACAS
Authors: COSSEE M CAMPUZANO V KOUTNIKOVA H FISCHBECK K MANDEL JL KOENIG M BIDICHANDANI SI PATEL PI MOLTE MD CANIZARES J DEFRUTOS R PIANESE L CAVALCANTI F MONTICELLI A COCOZZA S MONTERMINI L PANDOLFO M
Citation: M. Cossee et al., FRATAXIN FRACAS, Nature genetics, 15(4), 1997, pp. 337-338
THE GAA TRIPLET REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE
Authors: BIDICHANDANI SI ASHIZAWA T PANDOLFO M PATEL PI
Citation: Si. Bidichandani et al., THE GAA TRIPLET REPEAT EXPANSION IN FRIEDREICH ATAXIA INTERFERES WITHTRANSCRIPTION AND MAY BE ASSOCIATED WITH AN UNUSUAL DNA-STRUCTURE, American journal of human genetics, 61(4), 1997, pp. 130-130
MOLECULAR ANALYSIS OF DELETION (17)(P11.2P11.2) IN A FAMILY SEGREGATING A 17P PARACENTRIC INVERSION - IMPLICATIONS FOR CARRIERS OF PARACENTRIC INVERSIONS
Authors: YANG SP BIDICHANDANI SI FIGUERA LE JUYAL RC SAXON PJ BALDINI A PATEL PI
Citation: Sp. Yang et al., MOLECULAR ANALYSIS OF DELETION (17)(P11.2P11.2) IN A FAMILY SEGREGATING A 17P PARACENTRIC INVERSION - IMPLICATIONS FOR CARRIERS OF PARACENTRIC INVERSIONS, American journal of human genetics, 60(5), 1997, pp. 1184-1193
ATYPICAL FRIEDREICH ATAXIA CAUSED BY COMPOUND HETEROZYGOSITY FOR A NOVEL MISSENSE MUTATION AND THE GAA TRIPLET-REPEAT EXPANSION
Authors: BIDICHANDANI SI ASHIZAWA T PATEL PI
Citation: Si. Bidichandani et al., ATYPICAL FRIEDREICH ATAXIA CAUSED BY COMPOUND HETEROZYGOSITY FOR A NOVEL MISSENSE MUTATION AND THE GAA TRIPLET-REPEAT EXPANSION, American journal of human genetics, 60(5), 1997, pp. 1251-1256
CIRCULATING HUMAN FACTOR-IX PRODUCED IN KERATIN-PROMOTOR TRANSGENIC MICE - A FEASIBILITY STUDY FOR GENE-THERAPY OF HEMOPHILIA-B (VOL 4, PG 993, 1995)
Authors: ALEXANDER MY BIDICHANDANI SI COUSINS FM ROBINSON CJM DUFFIE E AKHURST RJ
Citation: My. Alexander et al., CIRCULATING HUMAN FACTOR-IX PRODUCED IN KERATIN-PROMOTOR TRANSGENIC MICE - A FEASIBILITY STUDY FOR GENE-THERAPY OF HEMOPHILIA-B (VOL 4, PG 993, 1995), Human molecular genetics, 5(8), 1996, pp. 1206-1206
FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION
Authors: CAMPUZANO V MONTERMINI L MOLTO MD PIANESE L COSSEE M CAVALCANTI F MONROS E RODIUS F DUCLOS F MONTICELLI A ZARA F CANIZARES J KOUTNIKOVA H BIDICHANDANI SI GELLERA C BRICE A TROUILLAS P DEMICHELE G FILLA A DEFRUTOS R PALAU F PATEL PI DIDONATO S MANDEL JL COCOZZA S KOENIG M PANDOLFO M
Citation: V. Campuzano et al., FRIEDREICHS-ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONIC GAA TRIPLET REPEAT EXPANSION, Science, 271(5254), 1996, pp. 1423-1427
CIRCULATING HUMAN FACTOR-IX PRODUCED IN KERATIN PROMOTER TRANSGENIC MICE - A FEASIBILITY STUDY FOR GENE-THERAPY OF HEMOPHILIA-B
Authors: ALEXANDER MY BIDICHANDANI SI COUSINS FM ROBINSON CJM DUFFIE E AKHURST RJ
Citation: My. Alexander et al., CIRCULATING HUMAN FACTOR-IX PRODUCED IN KERATIN PROMOTER TRANSGENIC MICE - A FEASIBILITY STUDY FOR GENE-THERAPY OF HEMOPHILIA-B, Human molecular genetics, 4(6), 1995, pp. 993-999
KERATINOCYTE-SPECIFIC EXPRESSION OF FACTOR-IX FOR GENE-THERAPY FOR HEMOPHILIA-B
Authors: BIDICHANDANI SI ALEXANDER MY AKHURST RA
Citation: Si. Bidichandani et al., KERATINOCYTE-SPECIFIC EXPRESSION OF FACTOR-IX FOR GENE-THERAPY FOR HEMOPHILIA-B, Journal of cellular biochemistry, 1995, pp. 374-374
DETECTION OF MUTATIONS IN ECTOPIC FACTOR-VIII TRANSCRIPTS FROM 9 HEMOPHILIA-A PATIENTS AND THE CORRELATION WITH PHENOTYPE
Authors: BIDICHANDANI SI LANYON WG SHIACH CR LOWE GDO CONNER JM
Citation: Si. Bidichandani et al., DETECTION OF MUTATIONS IN ECTOPIC FACTOR-VIII TRANSCRIPTS FROM 9 HEMOPHILIA-A PATIENTS AND THE CORRELATION WITH PHENOTYPE, Human genetics, 95(5), 1995, pp. 531-538
TRIPLEX-MEDIATED MODULATION OR PMP22 GENE-EXPRESSION - A POTENTIAL THERAPEUTIC APPROACH FOR INHERITED PERIPHERAL NEUROPATHIES
Authors: BIDICHANDANI SI SCHOENERSCOTT RS HOGAN ME PATEL PI
Citation: Si. Bidichandani et al., TRIPLEX-MEDIATED MODULATION OR PMP22 GENE-EXPRESSION - A POTENTIAL THERAPEUTIC APPROACH FOR INHERITED PERIPHERAL NEUROPATHIES, American journal of human genetics, 57(4), 1995, pp. 222-222
NOVEL SPLICE DONOR MUTATION AFFECTING POSITION--6 OF THE FACTOR-VIII GENE(3 IN INTRON)
Authors: BIDICHANDANI SI SHIACH CR LANYON WG CONNOR JM
Citation: Si. Bidichandani et al., NOVEL SPLICE DONOR MUTATION AFFECTING POSITION--6 OF THE FACTOR-VIII GENE(3 IN INTRON), Human molecular genetics, 3(4), 1994, pp. 651-653
MUTATION ANALYSIS IN HEMOPHILIA-A
Authors: BIDICHANDANI SI LANYON WG SHIACH C LOWE GDO CONNOR JM
Citation: Si. Bidichandani et al., MUTATION ANALYSIS IN HEMOPHILIA-A, Journal of cellular biochemistry, 1994, pp. 236-236
TREATMENT OF HEMOPHILIA-B BY SOMATIC-CELL GENE-THERAPY USING KERATINOCYTES AS A GENE DELIVERY SYSTEM
Authors: ALEXANDER MY BIDICHANDANI SI ROBINSON CJM AKHURST RJ
Citation: My. Alexander et al., TREATMENT OF HEMOPHILIA-B BY SOMATIC-CELL GENE-THERAPY USING KERATINOCYTES AS A GENE DELIVERY SYSTEM, Journal of cellular biochemistry, 1994, pp. 241-241
CHARACTERIZATION OF A 5-BP DELETION IN EXON-4 OF THE FACTOR-VIII GENE- CONCORDANCE WITH SLIPPED-MISPAIRING AT DNA-REPLICATION
Authors: BIDICHANDANI SI LANYON WG CONNER JM
Citation: Si. Bidichandani et al., CHARACTERIZATION OF A 5-BP DELETION IN EXON-4 OF THE FACTOR-VIII GENE- CONCORDANCE WITH SLIPPED-MISPAIRING AT DNA-REPLICATION, Human genetics, 94(4), 1994, pp. 447-449
3 NOVEL MUTATIONS IN THE FACTOR-VIII GENE
Authors: BIDICHANDANI SI LANYON WG SCHIACH C LOWE GDO CONNOR JM
Citation: Si. Bidichandani et al., 3 NOVEL MUTATIONS IN THE FACTOR-VIII GENE, Journal of Medical Genetics, 31(2), 1994, pp. 174-174
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