AAAAAA

   
Results: 1-25 | 26-50 | 51-57
Results: 1-25/57
THE SHORT VARIANT OF THE POLYMORPHISM WITHIN THE PROMOTER REGION OF THE SEROTONIN TRANSPORTER GENE IS A RISK FACTOR FOR LATE-ONSET ALZHEIMERS-DISEASE
Authors: OLIVEIRA JRM GALLINDO RM MAIA LGS BRITOMARQUES PR OTTO PA PASSOSBUENO MR MORAIS MA ZATZ M
Citation: Jrm. Oliveira et al., THE SHORT VARIANT OF THE POLYMORPHISM WITHIN THE PROMOTER REGION OF THE SEROTONIN TRANSPORTER GENE IS A RISK FACTOR FOR LATE-ONSET ALZHEIMERS-DISEASE, Molecular psychiatry, 3(5), 1998, pp. 438-441
A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B
Authors: BASHIR R BRITTON S STRACHAN T KEERS S VAFIADAKI E LAKO M RICHARD I MARCHAND S BOURG N ARGOV Z SADEH M MAHJNEH I MARCONI G PASSOSBUENO MR MOREIRA ED ZATZ M BECKMANN JS BUSHBY K
Citation: R. Bashir et al., A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B, Nature genetics, 20(1), 1998, pp. 37-42
CAVEOLIN-3 IN MUSCULAR-DYSTROPHY
Authors: MCNALLY EM MOREIRA ED DUGGAN DJ LISANTI MP LIDOV HGW VAINZOF M BONNEMANN CG PASSOSBUENO MR HOFFMAN EP ZATZ M KUNKEL LM
Citation: Em. Mcnally et al., CAVEOLIN-3 IN MUSCULAR-DYSTROPHY, Human molecular genetics, 7(5), 1998, pp. 871-877
CLINICAL-DIAGNOSIS OF HETEROZYGOUS DYSTROPHIN GENE DELETIONS BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: ROSENBERG C NAVAJAS L VAGENAS DF BAKKER E VAINZOF M PASSOSBUENO MR TAKATA RI VANOMMEN GJB ZATZ M DENDUNNEN JT
Citation: C. Rosenberg et al., CLINICAL-DIAGNOSIS OF HETEROZYGOUS DYSTROPHIN GENE DELETIONS BY FLUORESCENCE IN-SITU HYBRIDIZATION, Neuromuscular disorders, 8(7), 1998, pp. 447-452
ANALYSIS OF A NOVEL FUNCTIONAL POLYMORPHISM WITHIN THE PROMOTER REGION OF THE SEROTONIN TRANSPORTER GENE (5-HTT) IN BRAZILIAN PATIENTS AFFECTED BY BIPOLAR DISORDER AND SCHIZOPHRENIA
Authors: DEOLIVEIRA JRM OTTO PA VALLADA H LAURIANO V ELKIS H LAFER B VASQUEZ L GENTIL V PASSOSBUENO MR ZATZ M
Citation: Jrm. Deoliveira et al., ANALYSIS OF A NOVEL FUNCTIONAL POLYMORPHISM WITHIN THE PROMOTER REGION OF THE SEROTONIN TRANSPORTER GENE (5-HTT) IN BRAZILIAN PATIENTS AFFECTED BY BIPOLAR DISORDER AND SCHIZOPHRENIA, American journal of medical genetics, 81(3), 1998, pp. 225-227
PATERNAL INHERITANCE OR DIFFERENT MUTATIONS IN MATERNALLY RELATED PATIENTS OCCUR IN ABOUT 3-PERCENT OF DUCHENNE FAMILIAL CASES
Authors: ZATZ M SUMITA D CAMPIOTTO S CANOVAS M CERQUEIRA A VAINZOF M PASSOSBUENO MR
Citation: M. Zatz et al., PATERNAL INHERITANCE OR DIFFERENT MUTATIONS IN MATERNALLY RELATED PATIENTS OCCUR IN ABOUT 3-PERCENT OF DUCHENNE FAMILIAL CASES, American journal of medical genetics, 78(4), 1998, pp. 361-365
DESCRIPTION OF A NEW MUTATION AND CHARACTERIZATION OF FGFR1, FGFR2, AND FGFR3 MUTATIONS AMONG BRAZILIAN PATIENTS WITH SYNDROMIC CRANIOSYNOSTOSES
Authors: PASSOSBUENO MR SERTIE AL RICHIERICOSTA A ALONSO LG ZATZ M ALONSO N BRUNONI D RIBEIRO SFM
Citation: Mr. Passosbueno et al., DESCRIPTION OF A NEW MUTATION AND CHARACTERIZATION OF FGFR1, FGFR2, AND FGFR3 MUTATIONS AMONG BRAZILIAN PATIENTS WITH SYNDROMIC CRANIOSYNOSTOSES, American journal of medical genetics, 78(3), 1998, pp. 237-241
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
SWEAT ELECTROLYTE AND CYSTIC-FIBROSIS MUTATION ANALYSIS ALLOWS EARLY DIAGNOSIS IN BRAZILIAN CHILDREN WITH CLINICAL SIGNS COMPATIBLE WITH CYSTIC-FIBROSIS
Authors: RABBIBORTOLINI E BERNARDINO ALF LOPES AL FERRI AD PASSOSBUENO MR ZATZ M
Citation: E. Rabbibortolini et al., SWEAT ELECTROLYTE AND CYSTIC-FIBROSIS MUTATION ANALYSIS ALLOWS EARLY DIAGNOSIS IN BRAZILIAN CHILDREN WITH CLINICAL SIGNS COMPATIBLE WITH CYSTIC-FIBROSIS, American journal of medical genetics, 76(4), 1998, pp. 288-290
PRESENCE OF THE APERT CANONICAL S252W FGFR2 MUTATION IN A PATIENT WITHOUT SEVERE SYNDACTYLY
Authors: PASSOSBUENO MR RICHIERICOSTA A SERTIE AL KNEPPERS A
Citation: Mr. Passosbueno et al., PRESENCE OF THE APERT CANONICAL S252W FGFR2 MUTATION IN A PATIENT WITHOUT SEVERE SYNDACTYLY, Journal of Medical Genetics, 35(8), 1998, pp. 677-679
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
NOVEL POINT MUTATIONS IN THE DYSTROPHIN GENE
Authors: SITNIK R CAMPIOTTO S VAINZOF M PAVANELLO RC TAKATA RI ZATZ M PASSOSBUENO MR
Citation: R. Sitnik et al., NOVEL POINT MUTATIONS IN THE DYSTROPHIN GENE, Human mutation, 10(3), 1997, pp. 217-222
FAMILIAL SPONGIFORM ENCEPHALOPATHY ASSOCIATED WITH A NOVEL PRION PROTEIN GENE MUTATION
Authors: NITRINI R ROSEMBERG S PASSOSBUENO MR DASILVA LST IUGHETTI P PAPADOPOULOS M CARRILHO PM CARAMELLI P ALBRECHT S ZATZ M LEBLANC A
Citation: R. Nitrini et al., FAMILIAL SPONGIFORM ENCEPHALOPATHY ASSOCIATED WITH A NOVEL PRION PROTEIN GENE MUTATION, Annals of neurology, 42(2), 1997, pp. 138-146
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
THE USE OF APOLIPOPROTEIN-E GENOTYPE FOR PRECLINICAL DETECTION OF RISKS GROUP FOR ALZHEIMERS-DISEASE
Authors: OLIVEIRA JRM LIMA JL SHIMOKOMAKI CM OKUMA M PASSOSBUENO MR ZATZ M BRITOMARQUES PR
Citation: Jrm. Oliveira et al., THE USE OF APOLIPOPROTEIN-E GENOTYPE FOR PRECLINICAL DETECTION OF RISKS GROUP FOR ALZHEIMERS-DISEASE, American journal of medical genetics, 74(2), 1997, pp. 216-217
PFEIFFER MUTATION IN AN APERT PATIENT - HOW WIDE IS THE SPECTRUM OF VARIABILITY DUE TO MUTATIONS IN THE FGFR2 GENE
Authors: PASSOSBUENO MR SERTIE AL ZATZ M RICHIERICOSTA A
Citation: Mr. Passosbueno et al., PFEIFFER MUTATION IN AN APERT PATIENT - HOW WIDE IS THE SPECTRUM OF VARIABILITY DUE TO MUTATIONS IN THE FGFR2 GENE, American journal of medical genetics, 71(2), 1997, pp. 243-245
ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A)
Authors: SPENCER MJ TIDBALL JG ANDERSON LVB BUSHBY KMD HARRIS JB PASSOSBUENO MR SOMER H VAINZOF M ZATZ M
Citation: Mj. Spencer et al., ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A), Journal of the neurological sciences, 146(2), 1997, pp. 173-178
SEGREGATION DISTORTION OF THE CTG REPEATS AT THE MYOTONIC-DYSTROPHY (DM) LOCUS - NEW DATA FROM BRAZILIAN DM FAMILIES
Authors: ZATZ M CERQUEIRA A VAINZOF M PASSOSBUENO MR
Citation: M. Zatz et al., SEGREGATION DISTORTION OF THE CTG REPEATS AT THE MYOTONIC-DYSTROPHY (DM) LOCUS - NEW DATA FROM BRAZILIAN DM FAMILIES, Journal of Medical Genetics, 34(9), 1997, pp. 790-791
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
CHARACTERIZATION OF FGFR1, FGFR2 AND FGFR3 MUTATIONS IN 45 BRAZILIAN PATIENTS WITH CRANIOSYNOSTOSIS
Authors: PASSOSBUENO MR SERTIE AL RICHIERICOSTA A ALONSO LG ZATZ M ALONSON N BRUNONI D RIBEIRO SFM CAVALHEIRO S
Citation: Mr. Passosbueno et al., CHARACTERIZATION OF FGFR1, FGFR2 AND FGFR3 MUTATIONS IN 45 BRAZILIAN PATIENTS WITH CRANIOSYNOSTOSIS, American journal of human genetics, 61(4), 1997, pp. 2005-2005
EVIDENCE OF A MAJOR AUTOSOMAL-DOMINANT MENDELIAN GENE RESPONSIBLE FORNONSYNDROMIC CLEFT-PALATE
Authors: SERTIE AL STEMAN S ZATZ M PASSOSBUENO MR
Citation: Al. Sertie et al., EVIDENCE OF A MAJOR AUTOSOMAL-DOMINANT MENDELIAN GENE RESPONSIBLE FORNONSYNDROMIC CLEFT-PALATE, American journal of human genetics, 61(4), 1997, pp. 2354-2354
A GENETIC, CLINICAL AND MOLECULAR APPROACH IN BRAZILIAN FAMILIES WITHMARFAN-SYNDROME
Authors: PEREZ ABA PEREIRA LV ZATZ M BRUNONI D PASSOSBUENO MR
Citation: Aba. Perez et al., A GENETIC, CLINICAL AND MOLECULAR APPROACH IN BRAZILIAN FAMILIES WITHMARFAN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 2408-2408
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
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, LGMD2F, IS CAUSEDBY A MUTATION IN THE DELTA-SARCOGLYCAN GENE
Authors: NIGRO V MOREIRA ED PILUSO G VAINZOF M BELSITO A POLITANO L PUCA AA PASSOSBUENO MR ZATZ M
Citation: V. Nigro et al., AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, LGMD2F, IS CAUSEDBY A MUTATION IN THE DELTA-SARCOGLYCAN GENE, Nature genetics, 14(2), 1996, pp. 195-198
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
Risultati: 1-25 | 26-50 | 51-57