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Results: 1-10 |
Results: 10
MOLECULAR APPROACHES TO IDENTIFY GENES IN THE 21Q11.2 REGION
Authors: VALERO R BAYES M MONROS E SANCHEZ F MARFANY G GONZALEZDUARTE R
Citation: R. Valero et al., MOLECULAR APPROACHES TO IDENTIFY GENES IN THE 21Q11.2 REGION, Cytogenetics and cell genetics, 77, 1997, pp. 14-14
PHENOTYPE CORRELATION AND INTERGENERATIONAL DYNAMICS OF THE FRIEDREICH ATAXIA GAA TRINUCLEOTIDE REPEAT
Authors: MONROS E MOLTO MD MARTINEZ F CANIZARES J BLANCA J VILCHEZ JJ PRIETO F DEFRUTOS R PALAU F
Citation: E. Monros et al., PHENOTYPE CORRELATION AND INTERGENERATIONAL DYNAMICS OF THE FRIEDREICH ATAXIA GAA TRINUCLEOTIDE REPEAT, American journal of human genetics, 61(1), 1997, pp. 101-110
EVIDENCE FOR A COMMON ORIGIN OF MOST FRIEDREICH ATAXIA CHROMOSOMES INTHE SPANISH POPULATION
Authors: MONROS E CANIZARES J MOLTO MD RODIUS F MONTERMINI L COSSEE M MARTINEZ F PRIETO F DEFRUTOS R KOENIG M PANDOLFO M BERTRANPETIT J PALAU F
Citation: E. Monros et al., EVIDENCE FOR A COMMON ORIGIN OF MOST FRIEDREICH ATAXIA CHROMOSOMES INTHE SPANISH POPULATION, European journal of human genetics, 4(4), 1996, pp. 191-198
A FAMILY SEGREGATING A FRIEDREICH ATAXIA PHENOTYPE THAT IS NOT LINKEDTO THE FRDA LOCUS
Authors: SMEYERS P MONROS E VILCHEZ J LOPEZARLANDIS J PRIETO F PALAU F
Citation: P. Smeyers et al., A FAMILY SEGREGATING A FRIEDREICH ATAXIA PHENOTYPE THAT IS NOT LINKEDTO THE FRDA LOCUS, Human genetics, 97(6), 1996, pp. 824-828
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
FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION
Authors: MONTERMINI L ZARA F BIDICHANDANI S PATEL PI PANDOLFO M CAMPUZANO V COSSEE M RODIUS F DUCLOS F KOUTNIKOVA H MANDEL JL KOENIG M PIANESE FL MONTICELLI A CAVALCANTI F COCOZZA S DEMICHELE G FILLA A BRICE A TROUILLAS P MONROS E PALAU F CANIZARES J DEFRUTOS R GELLERA C DIDONATO S
Citation: L. Montermini et al., FRIEDREICH ATAXIA - AUTOSOMAL RECESSIVE DISEASE CAUSED BY AN INTRONICGAA TRIPLET REPEAT EXPANSION, Neurology, 47(1), 1996, pp. 294-294
DETECTION OF HOMOZYGOSITY BY DESCENT - REPLY
Authors: MONROS E PALAU F
Citation: E. Monros et F. Palau, DETECTION OF HOMOZYGOSITY BY DESCENT - REPLY, European journal of human genetics, 3(3), 1995, pp. 205-205
EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q
Authors: PALAU F DEMICHELE G VILCHEZ JJ PANDOLFO M MONROS E COCOZZA S SMEYERS P LOPEZARLANDIS J CAMPANELLA G DIDONATO S FILLA A
Citation: F. Palau et al., EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q, Annals of neurology, 37(3), 1995, pp. 359-362
PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA - IMPROVED ACCURACY BY USING NEW GENETIC FLANKING MARKERS
Authors: MONROS E SMEYERS P RAMOS MA PRIETO F PALAU F
Citation: E. Monros et al., PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA - IMPROVED ACCURACY BY USING NEW GENETIC FLANKING MARKERS, Prenatal diagnosis, 15(6), 1995, pp. 551-554
HOMOZYGOSITY MAPPING PLACES THE FRIEDREICHS ATAXIA GENE CENTROMERIC TO D9S5 LOCUS
Authors: PALAU F MONROS E CANIZARES J MOLTO MD PANDOLFO M DEFRUTOS R PRIETOL F
Citation: F. Palau et al., HOMOZYGOSITY MAPPING PLACES THE FRIEDREICHS ATAXIA GENE CENTROMERIC TO D9S5 LOCUS, American journal of human genetics, 53(3), 1993, pp. 1056-1056
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