AAAAAA

   
Results: 1-14 |
Results: 14
GAA INSTABILITY IN FRIEDREICHS-ATAXIA SHARES A COMMON, DNA-DIRECTED AND INTRAALLELIC MECHANISM WITH OTHER TRINUCLEOTIDE DISEASES
Authors: GACY AM GOELLNER GM SPIRO C CHEN X GUPTA G BRADBURY EM DYER RB MIKESELL MJ YAO JZ JOHNSON AJ RICHTER A MELANCON SB MCMURRAY CT
Citation: Am. Gacy et al., GAA INSTABILITY IN FRIEDREICHS-ATAXIA SHARES A COMMON, DNA-DIRECTED AND INTRAALLELIC MECHANISM WITH OTHER TRINUCLEOTIDE DISEASES, MOLECULAR CELL, 1(4), 1998, pp. 583-593
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
Authors: BOUCHARD JP RICHTER A MATHIEU J BRUNET D HUDSON TJ MORGAN K MELANCON SB
Citation: Jp. Bouchard et al., AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY, Neuromuscular disorders, 8(7), 1998, pp. 474-479
PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION
Authors: MONTERMINI L RICHTER A MORGAN K JUSTICE CM JULIEN D CASTELLOTTI B MERCIER J POIRIER J CAPOZZOLI F BOUCHARD JP LEMIEUX B MATHIEU J VANASSE M SENI MH GRAHAM G ANDERMANN F ANDERMANN E MELANCON SB KEATS BJB DIDONATO S PANDOLFO M
Citation: L. Montermini et al., PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION, Annals of neurology, 41(5), 1997, pp. 675-682
A PCR BASED HIGHLY INFORMATIVE DNA MARKER WITH MORE THAN 65 ALLELES
Authors: TANG JQ SEGUIN MJ MORSE MC MELANCON SB
Citation: Jq. Tang et al., A PCR BASED HIGHLY INFORMATIVE DNA MARKER WITH MORE THAN 65 ALLELES, American journal of human genetics, 61(4), 1997, pp. 2356-2356
CHRONIC SODIUM BENZOATE THERAPY IN CHILDREN WITH INBORN-ERRORS OF UREA SYNTHESIS - EFFECT ON CARNITINE METABOLISM AND AMMONIA NITROGEN REMOVAL
Authors: FEOLIFONSECA JC LAMBERT M MITCHELL G MELANCON SB DALLAIRE L MILLINGTON DS QURESHI IA
Citation: Jc. Feolifonseca et al., CHRONIC SODIUM BENZOATE THERAPY IN CHILDREN WITH INBORN-ERRORS OF UREA SYNTHESIS - EFFECT ON CARNITINE METABOLISM AND AMMONIA NITROGEN REMOVAL, Biochemical and molecular medicine, 57(1), 1996, pp. 31-36
GERMINAL HPRT SPLICE DONOR SITE MUTATION RESULTS IN MULTIPLE RNA SPLICING PRODUCTS IN T-LYMPHOCYTE CULTURES
Authors: HUNTER TC MELANCON SB DALLAIRE L TAFT S SKOPEK TR ALBERTINI RJ ONEILL JP
Citation: Tc. Hunter et al., GERMINAL HPRT SPLICE DONOR SITE MUTATION RESULTS IN MULTIPLE RNA SPLICING PRODUCTS IN T-LYMPHOCYTE CULTURES, Somatic cell and molecular genetics, 22(2), 1996, pp. 145-150
FRIEDREICH ATAXIA IN ACADIAN FAMILIES FROM EASTERN CANADA - CLINICAL DIVERSITY WITH CONSERVED HAPLOTYPES
Authors: RICHTER A POIRIER J MERCIER J JULIEN D MORGAN K ROY M GOSSELIN F BOUCHARD JP MELANCON SB
Citation: A. Richter et al., FRIEDREICH ATAXIA IN ACADIAN FAMILIES FROM EASTERN CANADA - CLINICAL DIVERSITY WITH CONSERVED HAPLOTYPES, American journal of medical genetics, 64(4), 1996, pp. 594-601
ALU-PCR COMBINED WITH NON-ALU PRIMERS REVEALS MULTIPLE POLYMORPHIC LOCI
Authors: TANG JQ KORABLASKOWSKA M JARNIK M CARDINAL G VANASSE M MELANCON SB LABUDA D
Citation: Jq. Tang et al., ALU-PCR COMBINED WITH NON-ALU PRIMERS REVEALS MULTIPLE POLYMORPHIC LOCI, Mammalian genome, 6(5), 1995, pp. 345-349
PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME IS POSSIBLE BY MEASUREMENT OF 7-DEHYDROCHOLESTEROL IN AMNIOTIC-FLUID
Authors: DALLAIRE L MITCHELL G GIGUERE R LEFEBVRE F MELANCON SB LAMBERT M
Citation: L. Dallaire et al., PRENATAL-DIAGNOSIS OF SMITH-LEMLI-OPITZ SYNDROME IS POSSIBLE BY MEASUREMENT OF 7-DEHYDROCHOLESTEROL IN AMNIOTIC-FLUID, Prenatal diagnosis, 15(9), 1995, pp. 855-858
GENOTYPE-PHENOTYPE CORRELATION IN ACADIAN FRIEDREICHS ATAXIA (FRDA-ACAD)
Authors: RICHTER A BOUCHARD JP MELANCON SB
Citation: A. Richter et al., GENOTYPE-PHENOTYPE CORRELATION IN ACADIAN FRIEDREICHS ATAXIA (FRDA-ACAD), American journal of human genetics, 57(4), 1995, pp. 1447-1447
LINKAGE DISEQUILIBRIUM ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY (SMA) IN THE FRENCH - CANADIAN POPULATION
Authors: SIMARD LR PRESCOTT G ROCHETTE C MORGAN K LEMIEUX B MATHIEU J MELANCON SB VANASSE M
Citation: Lr. Simard et al., LINKAGE DISEQUILIBRIUM ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY (SMA) IN THE FRENCH - CANADIAN POPULATION, Human molecular genetics, 3(3), 1994, pp. 459-463
DIARRHEA AND AUTONOMIC DYSFUNCTION IN A PATIENT WITH HEXOSAMINIDASE-BDEFICIENCY (SANDHOFF DISEASE)
Authors: MODIGLIANI R LEMANN M MELANCON SB MIKOL J POTIER M SALMERON M SAID G POITRAS P
Citation: R. Modigliani et al., DIARRHEA AND AUTONOMIC DYSFUNCTION IN A PATIENT WITH HEXOSAMINIDASE-BDEFICIENCY (SANDHOFF DISEASE), Gastroenterology, 106(3), 1994, pp. 775-781
LINKAGE DISEQUILIBRIUM BETWEEN CERTAIN CHROMOSOME-5Q MARKERS AND CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY (SMA) IN THE FRENCH-CANADIAN POPULATION
Authors: SIMARD LR PRESCOTT G ROCHETTE C MORGAN K MELANCON SB VANASSE M
Citation: Lr. Simard et al., LINKAGE DISEQUILIBRIUM BETWEEN CERTAIN CHROMOSOME-5Q MARKERS AND CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY (SMA) IN THE FRENCH-CANADIAN POPULATION, American journal of human genetics, 53(3), 1993, pp. 1078-1078
FRIEDREICHS-DISEASE (FRDA) IN QUEBEC - ALLELIC AND HAPLOTYPE ASSOCIATION BETWEEN THE DISEASE AND CLOSELY LINKED MARKERS ON 9Q13-21.1
Authors: RICHTER AM MORGAN K MERCIER JP POIRIER JF POISSON E MELANCON SB
Citation: Am. Richter et al., FRIEDREICHS-DISEASE (FRDA) IN QUEBEC - ALLELIC AND HAPLOTYPE ASSOCIATION BETWEEN THE DISEASE AND CLOSELY LINKED MARKERS ON 9Q13-21.1, American journal of human genetics, 53(3), 1993, pp. 1660-1660
Risultati: 1-14 |