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Results: 1-25 | 26-50
Results: 1-25/50
LACK OF AN ASSOCIATION BETWEEN A DOPAMINE-4 RECEPTOR POLYMORPHISM ANDATTENTION-DEFICIT HYPERACTIVITY DISORDER - GENETIC AND BRAIN MORPHOMETRIC ANALYSES/
Authors: CASTELLANOS FX LAU E TAYEBI N LEE P LONG RE GIEDD JN SHARP W MARSH WL WALTER JM HAMBURGER SD GINNS E RAPOPORT JL SIDRANSKY E
Citation: Fx. Castellanos et al., LACK OF AN ASSOCIATION BETWEEN A DOPAMINE-4 RECEPTOR POLYMORPHISM ANDATTENTION-DEFICIT HYPERACTIVITY DISORDER - GENETIC AND BRAIN MORPHOMETRIC ANALYSES/, Molecular psychiatry, 3(5), 1998, pp. 431-434
LARGE CAG CTG REPEATS ARE ASSOCIATED WITH CHILDHOOD-ONSET SCHIZOPHRENIA/
Authors: BURGESS CE LINDBLAD K SIDRANSKY E YUAN QP LONG RT BRESCHEL T ROSS CA MCINNIS M LEE P GINNS EI LENANE M KUMRA S JACOBSEN L RAPOPORT JL SCHALLING M
Citation: Ce. Burgess et al., LARGE CAG CTG REPEATS ARE ASSOCIATED WITH CHILDHOOD-ONSET SCHIZOPHRENIA/, Molecular psychiatry, 3(4), 1998, pp. 321-327
TYPE-2 GAUCHER-DISEASE WITH HYDROPS-FETALIS IN AN ASHKENAZI JEWISH FAMILY RESULTING FROM A NOVEL RECOMBINANT ALLELE AND A RARE SPLICE JUNCTION MUTATION IN THE GLUCOCEREBROSIDASE LOCUS
Authors: REISSNER K TAYEBI N STUBBLEFIELD BK KOPRIVICA V BLITZER M HOLLERAN W COWAN T ALMASHANU S MADDALENA A KARSON EM SIDRANSKY E
Citation: K. Reissner et al., TYPE-2 GAUCHER-DISEASE WITH HYDROPS-FETALIS IN AN ASHKENAZI JEWISH FAMILY RESULTING FROM A NOVEL RECOMBINANT ALLELE AND A RARE SPLICE JUNCTION MUTATION IN THE GLUCOCEREBROSIDASE LOCUS, MOLECULAR GENETICS AND METABOLISM, 63(4), 1998, pp. 281-288
HLA ANTIGENS IN CHILDHOOD-ONSET SCHIZOPHRENIA
Authors: JACOBSEN LK MITTLEMAN BB KUMRA S LENANE MC BARRACCHINI KC ADAMS S SIMONIS T PAUL PR LONG RT SHARP W SIDRANSKY E GINNS EI RAPOPORT JL
Citation: Lk. Jacobsen et al., HLA ANTIGENS IN CHILDHOOD-ONSET SCHIZOPHRENIA, Psychiatry research, 78(3), 1998, pp. 123-132
CHROMOSOME 22Q11.2 INTERSTITIAL DELETIONS AMONG CHILDHOOD-ONSET SCHIZOPHRENICS AND MULTIDIMENSIONALLY IMPAIRED
Authors: YAN WL JACOBSEN LK KRASNERWICH DM GUAN XY LENANE MC PAUL SP DALWADI HN ZHANG HG LONG RT KUMRA S MARTIN BM SCAMBLER PJ TRENT JM SIDRANSKY E GINNS EI RAPOPORT JL
Citation: Wl. Yan et al., CHROMOSOME 22Q11.2 INTERSTITIAL DELETIONS AMONG CHILDHOOD-ONSET SCHIZOPHRENICS AND MULTIDIMENSIONALLY IMPAIRED, American journal of medical genetics, 81(1), 1998, pp. 41-43
GENOTYPIC HETEROGENEITY AND PHENOTYPIC VARIATION AMONG PATIENTS WITH TYPE-2 GAUCHERS-DISEASE
Authors: TAYEBI N REISSNER KJ LAU EK STUBBLEFIELD BK KLINEBURGESS AC MARTIN BM SIDRANSKY E
Citation: N. Tayebi et al., GENOTYPIC HETEROGENEITY AND PHENOTYPIC VARIATION AMONG PATIENTS WITH TYPE-2 GAUCHERS-DISEASE, Pediatric research, 43(5), 1998, pp. 571-578
SPLENECTOMY IN GAUCHER-DISEASE - NEW MANAGEMENT DILEMMAS
Authors: KRASNEWICH D DIETRICH K BAUER L GINNS EI SIDRANSKY E
Citation: D. Krasnewich et al., SPLENECTOMY IN GAUCHER-DISEASE - NEW MANAGEMENT DILEMMAS, Blood, 91(8), 1998, pp. 3085-3087
A TRIPLET REPEAT ON 17Q ACCOUNTS FOR MOST EXPANSIONS DETECTED BY THE REPEAT-EXPANSION-DETECTION TECHNIQUE
Authors: SIDRANSKY E BURGESS C IKEUCHI T LINDBLAD K LONG RT PHILIBERT RA RAPOPORT J SCHALLING M TSUJI S GINNS EI
Citation: E. Sidransky et al., A TRIPLET REPEAT ON 17Q ACCOUNTS FOR MOST EXPANSIONS DETECTED BY THE REPEAT-EXPANSION-DETECTION TECHNIQUE, American journal of human genetics, 62(6), 1998, pp. 1548-1551
IDENTIFICATION OF 3 ADDITIONAL GENES CONTIGUOUS TO THE GLUCOCEREBROSIDASE LOCUS ON CHROMOSOME-1Q21 - IMPLICATIONS FOR GAUCHER-DISEASE
Authors: WINFIELD SL TAYEBI N MARTIN BM GINNS EI SIDRANSKY E
Citation: Sl. Winfield et al., IDENTIFICATION OF 3 ADDITIONAL GENES CONTIGUOUS TO THE GLUCOCEREBROSIDASE LOCUS ON CHROMOSOME-1Q21 - IMPLICATIONS FOR GAUCHER-DISEASE, PCR methods and applications, 7(10), 1997, pp. 1020-1026
CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME CORRELATION OF IN-VITRO 2(H-3)MANNOSE METABOLIC LABELING STUDIES WITH PHOSPHOMANNOMUTASE ACTIVITY (PMM) - PMM DETERMINED BY DIRECT ANALYSIS OF MANNOSE-1-PHOSPHATE TO MANNOSE-6-PHOSPHATE INTERCONVERSION
Authors: ORVISKY E STJOHN E PARKER M SIDRANSKY E MARTIN BM GINNS EI KRASNEWICH D
Citation: E. Orvisky et al., CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME CORRELATION OF IN-VITRO 2(H-3)MANNOSE METABOLIC LABELING STUDIES WITH PHOSPHOMANNOMUTASE ACTIVITY (PMM) - PMM DETERMINED BY DIRECT ANALYSIS OF MANNOSE-1-PHOSPHATE TO MANNOSE-6-PHOSPHATE INTERCONVERSION, Glycobiology, 7(7), 1997, pp. 92-92
GAUCHERS-DISEASE - THE BEST LAID SCHEMES OF MICE AND MEN
Authors: SIDRANSKY E GINNS EI
Citation: E. Sidransky et Ei. Ginns, GAUCHERS-DISEASE - THE BEST LAID SCHEMES OF MICE AND MEN, Bailliere's clinical haematology, 10(4), 1997, pp. 725-737
EVIDENCE THAT A D4DR-ASTERISK-7R DOPAMINE-RECEPTOR POLYMORPHISM IS NOT CORRELATED WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER/
Authors: CASTELLANOS FX LAU E TAYEBI N LEE P LONG RE GIEDD JN SHARP W MARSH WL GINNS EI RAPOPORT JL SIDRANSKY E
Citation: Fx. Castellanos et al., EVIDENCE THAT A D4DR-ASTERISK-7R DOPAMINE-RECEPTOR POLYMORPHISM IS NOT CORRELATED WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER/, American journal of medical genetics, 74(6), 1997, pp. 623-623
PRENATAL LETHALITY OF A HOMOZYGOUS NULL MUTATION IN THE HUMAN GLUCOCEREBROSIDASE GENE
Authors: TAYEBI N CUSHNER SR KLEIJER W LAU EK DAMSCHRODERWILLIAMS PJ STUBBLEFIELD BK DENHOLLANDER J SIDRANSKY E
Citation: N. Tayebi et al., PRENATAL LETHALITY OF A HOMOZYGOUS NULL MUTATION IN THE HUMAN GLUCOCEREBROSIDASE GENE, American journal of medical genetics, 73(1), 1997, pp. 41-47
GAUCHER-DISEASE PLUS
Authors: SIDRANSKY E GINNS EI
Citation: E. Sidransky et Ei. Ginns, GAUCHER-DISEASE PLUS, Journal of Medical Genetics, 34(10), 1997, pp. 876-877
HETEROALLELISM FOR A NOVEL RECOMBINANT ALLELE AND A RARE SPLICE JUNCTION MUTATION IN THE GLUCOCEREBROSIDASE LOCUS PRESENTING WITH HYDROPS-FETALIS
Authors: REISSNER K TAYEBI N ALMASHANA S BLITZER M COWAN TM HASSAN M MADDALENA A SPENCE C SIDRANSKY E KARSON E
Citation: K. Reissner et al., HETEROALLELISM FOR A NOVEL RECOMBINANT ALLELE AND A RARE SPLICE JUNCTION MUTATION IN THE GLUCOCEREBROSIDASE LOCUS PRESENTING WITH HYDROPS-FETALIS, American journal of human genetics, 61(4), 1997, pp. 923-923
ASSOCIATION STUDIES DO NOT SHOW AN INCREASED FREQUENCY OF THE 7-FOLD REPEAT FORM OF THE DOPAMINE-4 RECEPTOR POLYMORPHISM IN CHILDREN WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER (ADHD)
Authors: LAU EK CASTELLANOS FX TAYEBI N LEE P LONG RE GIEDD JN MARSH WL GINNS EI RAPOPORT JL SIDRANSKY E
Citation: Ek. Lau et al., ASSOCIATION STUDIES DO NOT SHOW AN INCREASED FREQUENCY OF THE 7-FOLD REPEAT FORM OF THE DOPAMINE-4 RECEPTOR POLYMORPHISM IN CHILDREN WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER (ADHD), American journal of human genetics, 61(4), 1997, pp. 1176-1176
GLUCOSYLSPHINGOSINE ACCUMULATION IN THE BRAIN, LIVER, AND SPLEEN OF TYPE-2 GAUCHER MICE
Authors: ORVISKY E MCKINNEY CE KRASNEWICH D ELIASON WK TAYEBI N MARTIN BM GINNS EI SIDRANSKY E
Citation: E. Orvisky et al., GLUCOSYLSPHINGOSINE ACCUMULATION IN THE BRAIN, LIVER, AND SPLEEN OF TYPE-2 GAUCHER MICE, American journal of human genetics, 61(4), 1997, pp. 1503-1503
ANALYSIS OF A PHOSPHOMANNOMUTASE-2 GENE IN AMERICAN PATIENTS WITH TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS)
Authors: TAYEBI N REISSNER K ORVISKY E EHLERT M MARTIN BM SIDRANSKY E GINNS EI KRASNEWICH D
Citation: N. Tayebi et al., ANALYSIS OF A PHOSPHOMANNOMUTASE-2 GENE IN AMERICAN PATIENTS WITH TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS), American journal of human genetics, 61(4), 1997, pp. 2041-2041
THE IDENTIFICATION OF 3 ADDITIONAL GENES CONTIGUOUS TO THE GLUCOCEREBROSIDASE LOCUS - IMPLICATIONS FOR GAUCHER-DISEASE
Authors: WINFIELD SL TAYEBI N MARTIN BM GINNS EI SIDRANSKY E
Citation: Sl. Winfield et al., THE IDENTIFICATION OF 3 ADDITIONAL GENES CONTIGUOUS TO THE GLUCOCEREBROSIDASE LOCUS - IMPLICATIONS FOR GAUCHER-DISEASE, American journal of human genetics, 61(4), 1997, pp. 2302-2302
IDENTIFICATION OF 2 NOVEL POLYMORPHISMS IN THE GLUCOCEREBROSIDASE GENE REGION
Authors: SIDRANSKY E LAU EK WINFIELD S STUBBLEFIELD BK ZIMRAN A TAYEBI N GINNS EI
Citation: E. Sidransky et al., IDENTIFICATION OF 2 NOVEL POLYMORPHISMS IN THE GLUCOCEREBROSIDASE GENE REGION, American journal of human genetics, 61(4), 1997, pp. 2318-2318
GENOTYPE D399N R463C IN A PATIENT WITH TYPE-3 GAUCHER DISEASE PREVIOUSLY ASSIGNED GENOTYPE N370S/R463C/
Authors: TAYEBI N HERMAN J GINNS EI SIDRANSKY E
Citation: N. Tayebi et al., GENOTYPE D399N R463C IN A PATIENT WITH TYPE-3 GAUCHER DISEASE PREVIOUSLY ASSIGNED GENOTYPE N370S/R463C/, Biochemical and molecular medicine, 57(2), 1996, pp. 149-151
55-BASE PAIR DELETION IN CERTAIN PATIENTS WITH GAUCHER DISEASE COMPLICATES SCREENING FOR COMMON GAUCHER ALLELES
Authors: TAYEBI N STERN H DYMARSKAIA I HERMAN J SIDRANSKY E
Citation: N. Tayebi et al., 55-BASE PAIR DELETION IN CERTAIN PATIENTS WITH GAUCHER DISEASE COMPLICATES SCREENING FOR COMMON GAUCHER ALLELES, American journal of medical genetics, 66(3), 1996, pp. 316-319
GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT
Authors: MCCABE ERB FINE BA GOLBUS MS GREENHOUSE JB MCGRATH GL NEW M OBRIEN WE ROWLEY PT SLY WS SPENCE MA STOCKMAN JA WHYTE M WILSON W WOLF B AERTS JMFG BARRANGER JA BARTON NW BEUTLER E BRADY RO COX TM EKSTEIN J ENG CM ERIKSON A FINDLING DM GARBER AM GINNS EI GRABOWSKI GA HILL SC HOLLACK CEM KABACK MM LEE RE MANKIN HJ MISTRY PK MOSCICKI RA MURRAY GJ NATOWICZ M PASTORES GM MIRANDA MCS SIDRANSKY E WARE JE WILLEMSEN R ZAIZOV R ZIMRAN A BEITINS IZ BERMAN RE ELLIOTT JM FERGUSON JH HALL WH MCKEON C NITKIN RM SCHLESINGER SL SHERIDAN PH WEEKS M COWDRY RW ALEXANDER DF GORDEN P HALL ZW VAITUKAITIS JL COLLINS FS GROFT S
Citation: Erb. Mccabe et al., GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT, JAMA, the journal of the American Medical Association, 275(7), 1996, pp. 548-553
USE OF LONG TEMPLATE PCR TO DIFFERENTIATE THE GLUCOCEREBROSIDASE GENEFROM PSEUDOGENE - IMPLICATIONS FOR GAUCHER-DISEASE
Authors: SIDRANSKY E CUSHNER S TAYEBI N
Citation: E. Sidransky et al., USE OF LONG TEMPLATE PCR TO DIFFERENTIATE THE GLUCOCEREBROSIDASE GENEFROM PSEUDOGENE - IMPLICATIONS FOR GAUCHER-DISEASE, Pediatric research, 39(4), 1996, pp. 870-870
DIFFERENT SITES OF RECOMBINATION BETWEEN THE GLUCOCEREBROSIDASE GENE AND PSEUDOGENE IN PATIENTS WITH GAUCHER DISEASE
Authors: TAYEBI N STUBBLEFIELD BK DAMSCHRODERWILLIAMS P CUSHNER S LAU E SIDRANSKY E
Citation: N. Tayebi et al., DIFFERENT SITES OF RECOMBINATION BETWEEN THE GLUCOCEREBROSIDASE GENE AND PSEUDOGENE IN PATIENTS WITH GAUCHER DISEASE, Pediatric research, 39(4), 1996, pp. 875-875
Risultati: 1-25 | 26-50