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Results: 1-22 |
Results: 22
DIFFERENT BEHAVIOR IN THE PATERNALLY VS. MATERNALLY INHERITED MUTATEDALLELE IN BRAZILIAN MACHADO-JOSEPH (MJD1) FAMILIES
Authors: IUGHETTI P OTTO PA ZATZ M BUENO MRP MARIE SK
Citation: P. Iughetti et al., DIFFERENT BEHAVIOR IN THE PATERNALLY VS. MATERNALLY INHERITED MUTATEDALLELE IN BRAZILIAN MACHADO-JOSEPH (MJD1) FAMILIES, American journal of medical genetics, 77(3), 1998, pp. 246-248
THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD1) GENE AFFECTS MALESMORE SEVERELY AND MORE FREQUENTLY THAN FEMALES
Authors: ZATZ M MARIE SK CERQUEIRA A VAINZOF M PAVANELLO RCM PASSOSBUENO MR
Citation: M. Zatz et al., THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD1) GENE AFFECTS MALESMORE SEVERELY AND MORE FREQUENTLY THAN FEMALES, American journal of medical genetics, 77(2), 1998, pp. 155-161
A FIRST MISSENSE MUTATION IN THE DELTA-SARCOGLYCAN GENE ASSOCIATED WITH A SEVERE PHENOTYPE AND FREQUENCY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2F (LGMD2F) IN BRAZILIAN SARCOGLYCANOPATHIES
Authors: MOREIRA ES VAINZOF M MARIE SK NIGRO V ZATZ M PASSOSBUENO MR
Citation: Es. Moreira et al., A FIRST MISSENSE MUTATION IN THE DELTA-SARCOGLYCAN GENE ASSOCIATED WITH A SEVERE PHENOTYPE AND FREQUENCY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2F (LGMD2F) IN BRAZILIAN SARCOGLYCANOPATHIES, Journal of Medical Genetics, 35(11), 1998, pp. 951-953
DEFICIENCY OF ALPHA-ACTININ-3 (ACTN3) OCCURS IN DIFFERENT FORMS OF MUSCULAR-DYSTROPHY
Authors: VAINZOF M COSTA CS MARIE SK MOREIRA ES REED U PASSOSBUENO MR BEGGS AH ZATZ M
Citation: M. Vainzof et al., DEFICIENCY OF ALPHA-ACTININ-3 (ACTN3) OCCURS IN DIFFERENT FORMS OF MUSCULAR-DYSTROPHY, Neuropediatrics, 28(4), 1997, pp. 223-228
CLINICAL AND MOLECULAR ANALYSIS IN SPINAL MUSCULAR-ATROPHY BRAZILIAN PATIENTS
Authors: KIM CA PASSOSBUENO MR MARIE SK CERQUEIRA A CONTI U MARQUESDIAS MJ GONZALEZ CH ZATZ M
Citation: Ca. Kim et al., CLINICAL AND MOLECULAR ANALYSIS IN SPINAL MUSCULAR-ATROPHY BRAZILIAN PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1972-1972
THE 7TH FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY ISMAPPED TO 17Q11-12
Authors: MOREIRA ES VAINZOF M MARIE SK SERTIE AL ZATZ M PASSOSBUENO MR
Citation: Es. Moreira et al., THE 7TH FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY ISMAPPED TO 17Q11-12, American journal of human genetics, 61(1), 1997, pp. 151-159
GENOMIC SCREENING FOR BETA-SARCOGLYCAN GENE-MUTATIONS - MISSENSE MUTATIONS MAY CAUSE SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2E (LGMD 2E)
Authors: BONNEMANN CG PASSOSBUENO MR MCNALLY EM VAINZOF M MOREIRA ED MARIE SK PAVANELLO RCM NOGUCHI S OZAWA E ZATZ M KUNKEL LM
Citation: Cg. Bonnemann et al., GENOMIC SCREENING FOR BETA-SARCOGLYCAN GENE-MUTATIONS - MISSENSE MUTATIONS MAY CAUSE SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2E (LGMD 2E), Human molecular genetics, 5(12), 1996, pp. 1953-1961
THE SARCOGLYCAN COMPLEX IN THE 6 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES
Authors: VAINZOF M PASSOSBUENO MR CANOVAS M MOREIRA ES PAVANELLO RCM MARIE SK ANDERSON LVB BONNEMANN CG MCNALLY EM NIGRO V KUNKEL LM ZATZ M
Citation: M. Vainzof et al., THE SARCOGLYCAN COMPLEX IN THE 6 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES, Human molecular genetics, 5(12), 1996, pp. 1963-1969
CONGENITAL MUSCULAR-DYSTROPHY WITH CEREBRAL WHITE-MATTER HYPODENSITY - CORRELATION OF CLINICAL-FEATURES AND MEROSIN DEFICIENCY
Authors: REED UC MARIE SK VAINZOF M SALUM PB LEVY JA ZATZ M DIAMENT A
Citation: Uc. Reed et al., CONGENITAL MUSCULAR-DYSTROPHY WITH CEREBRAL WHITE-MATTER HYPODENSITY - CORRELATION OF CLINICAL-FEATURES AND MEROSIN DEFICIENCY, Brain & development, 18(1), 1996, pp. 53-58
DIFFERENT ORIGINS OF MUTATIONS AT THE MACHADO-JOSEPH LOCUS (MJD1)
Authors: IUGHETTI P ZATZ M BUENO MRP MARIE SK
Citation: P. Iughetti et al., DIFFERENT ORIGINS OF MUTATIONS AT THE MACHADO-JOSEPH LOCUS (MJD1), Journal of Medical Genetics, 33(5), 1996, pp. 439-439
MAIN CLINICAL-FEATURES OF THE 3 MAPPED AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES AND ESTIMATED PROPORTION OF EACH FORM IN 13 BRAZILIAN FAMILIES
Authors: PASSOSBUENO MR MOREIRA ES MARIE SK BASHIR R VASQUEZ L LOVE DR VAINZOF M IUGHETTI P OLIVEIRA JR BAKKER E STRACHAN T BUSHBY K ZATZ M
Citation: Mr. Passosbueno et al., MAIN CLINICAL-FEATURES OF THE 3 MAPPED AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES AND ESTIMATED PROPORTION OF EACH FORM IN 13 BRAZILIAN FAMILIES, Journal of Medical Genetics, 33(2), 1996, pp. 97-102
A COMMON MISSENSE MUTATION IN THE ADHALIN GENE IN 3 UNRELATED BRAZILIAN FAMILIES WITH A RELATIVELY MILD FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: BUENO MRP MOREIRA ES VAINZOF M CHAMBERLAIN J MARIE SK PEREIRA L AKIYAMA J ROBERDS SL CAMPBELL KP ZATZ M
Citation: Mrp. Bueno et al., A COMMON MISSENSE MUTATION IN THE ADHALIN GENE IN 3 UNRELATED BRAZILIAN FAMILIES WITH A RELATIVELY MILD FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, Human molecular genetics, 4(7), 1995, pp. 1163-1167
ANALYSIS OF THE CTG REPEAT IN SKELETAL-MUSCLE OF YOUNG AND ADULT MYOTONIC-DYSTROPHY PATIENTS - WHEN DOES THE EXPANSION OCCUR
Authors: ZATZ M PASSOSBUENO MR CERQUEIRA A MARIE SK VAINZOF M PAVANELLO RCM
Citation: M. Zatz et al., ANALYSIS OF THE CTG REPEAT IN SKELETAL-MUSCLE OF YOUNG AND ADULT MYOTONIC-DYSTROPHY PATIENTS - WHEN DOES THE EXPANSION OCCUR, Human molecular genetics, 4(3), 1995, pp. 401-406
CONFIRMATION OF THE 2P LOCUS FOR THE MILD AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY GENE (LGMD2B) IN 3 FAMILIES ALLOWS REFINEMENT OF THE CANDIDATE REGION
Authors: PASSOSBUENO MR BASHIR R MOREIRA ES VAINZOF M MARIE SK VASQUEZ L IUGHETTI P BAKKER E KEERS S STEPHENSON A STRACHAN T MAHNEH I WEISSENBACH J BUSHBY K ZATZ M
Citation: Mr. Passosbueno et al., CONFIRMATION OF THE 2P LOCUS FOR THE MILD AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY GENE (LGMD2B) IN 3 FAMILIES ALLOWS REFINEMENT OF THE CANDIDATE REGION, Genomics, 27(1), 1995, pp. 192-195
MYOTONIC-DYSTROPHY - GENETIC, CLINICAL, AND MOLECULAR ANALYSIS OF PATIENTS FROM 41 BRAZILIAN FAMILIES
Authors: PASSOSBUENO MR CERQUEIRA A VAINZOF M MARIE SK ZATZ M
Citation: Mr. Passosbueno et al., MYOTONIC-DYSTROPHY - GENETIC, CLINICAL, AND MOLECULAR ANALYSIS OF PATIENTS FROM 41 BRAZILIAN FAMILIES, Journal of Medical Genetics, 32(1), 1995, pp. 14-18
AN AUTOSOMAL FORM OF DOMINANT FAMILIAL SPASTIC PARAPLEGIA AFFECTING ALMOST EXCLUSIVELY MALES
Authors: ZATZ M MARIE SK PASSOSBUENO MR UNGAR D
Citation: M. Zatz et al., AN AUTOSOMAL FORM OF DOMINANT FAMILIAL SPASTIC PARAPLEGIA AFFECTING ALMOST EXCLUSIVELY MALES, American journal of human genetics, 57(4), 1995, pp. 588-588
LINKAGE ANALYSIS IN A LARGE BRAZILIAN FAMILY WITH KNOBLOCH SYNDROME
Authors: PASSOSBUENO MR SERTIE A QUIMBY M MURRAY J MARIE SK ZATZ M
Citation: Mr. Passosbueno et al., LINKAGE ANALYSIS IN A LARGE BRAZILIAN FAMILY WITH KNOBLOCH SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1934-1934
HIGH PROPORTION OF NEW MUTATIONS AND POSSIBLE ANTICIPATION IN BRAZILIAN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY FAMILIES
Authors: ZATZ M MARIE SK PASSOSBUENO MR VAINZOF M CAMPIOTTO S CERQUEIRA A WIJMENGA C PADBERG G FRANTS R
Citation: M. Zatz et al., HIGH PROPORTION OF NEW MUTATIONS AND POSSIBLE ANTICIPATION IN BRAZILIAN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY FAMILIES, American journal of human genetics, 56(1), 1995, pp. 99-105
HALF THE DYSTROPHIN GENE IS APPARENTLY ENOUGH FOR A MILD CLINICAL COURSE - CONFIRMATION OF ITS POTENTIAL USE FOR GENE-THERAPY
Authors: PASSOSBUENO MR VAINZOF M MARIE SK ZATZ M
Citation: Mr. Passosbueno et al., HALF THE DYSTROPHIN GENE IS APPARENTLY ENOUGH FOR A MILD CLINICAL COURSE - CONFIRMATION OF ITS POTENTIAL USE FOR GENE-THERAPY, Human molecular genetics, 3(6), 1994, pp. 919-922
KNOBLOCH SYNDROME IN A LARGE BRAZILIAN CONSANGUINEOUS FAMILY - CONFIRMATION OF AUTOSOMAL RECESSIVE INHERITANCE
Authors: PASSOSBUENO MR MARIE SK MONTEIRO M NEUSTEIN I WHITTLE MR VAINZOF M ZATZ M
Citation: Mr. Passosbueno et al., KNOBLOCH SYNDROME IN A LARGE BRAZILIAN CONSANGUINEOUS FAMILY - CONFIRMATION OF AUTOSOMAL RECESSIVE INHERITANCE, American journal of medical genetics, 52(2), 1994, pp. 170-173
ASSESSMENT OF THE 50-KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN BRAZILIAN PATIENTS WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Authors: ZATZ M MATSUMURA K VAINZOF M PASSOSBUENO MR PAVANELLO RCM MARIE SK CAMPBELL KP
Citation: M. Zatz et al., ASSESSMENT OF THE 50-KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN BRAZILIAN PATIENTS WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, Journal of the neurological sciences, 123(1-2), 1994, pp. 122-128
GENETIC-HETEROGENEITY FOR DUCHENNE-LIKE MUSCULAR-DYSTROPHY (DLMD) BASED ON LINKAGE AND 50 DAG ANALYSIS
Authors: PASSOSBUENO MR OLIVEIRA JR BAKKER E ANDERSON RD MARIE SK VAINZOF M ROBERDS S CAMPBELL KP ZATZ M
Citation: Mr. Passosbueno et al., GENETIC-HETEROGENEITY FOR DUCHENNE-LIKE MUSCULAR-DYSTROPHY (DLMD) BASED ON LINKAGE AND 50 DAG ANALYSIS, Human molecular genetics, 2(11), 1993, pp. 1945-1947
Risultati: 1-22 |