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Results: 1-17 |
Results: 17
EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS
Authors: BEAUCHAMP RL BANWELL A MCNAMARA P JACOBSEN M HIGGINS E NORTHRUP H SHORT P SIMS K OZELIUS L RAMESH V
Citation: Rl. Beauchamp et al., EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS, Human mutation, 12(6), 1998, pp. 408-416
EXCLUSION OF CHROMOSOME REGIONS 6P12 AND 15Q11, BUT NOT CHROMOSOME REGION 7P11, IN A GERMAN FAMILY WITH AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS
Authors: KLEIN C VIEREGGE P HEIDE W KEMPER B HAGEDORNGREIWE M HAGENAH J VOLLMER C BREAKEFIELD XO KOMPF D OZELIUS L
Citation: C. Klein et al., EXCLUSION OF CHROMOSOME REGIONS 6P12 AND 15Q11, BUT NOT CHROMOSOME REGION 7P11, IN A GERMAN FAMILY WITH AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS, Genomics (San Diego, Calif.), 54(1), 1998, pp. 176-177
USE OF MEIOTIC BREAKPOINT PANEL TO MAP MARKERS INTO THE INTERVAL BETWEEN D9S60 AND ABL
Authors: OZELIUS L ATTWOOD J REBELLO M POVEY S BREAKEFIELD X
Citation: L. Ozelius et al., USE OF MEIOTIC BREAKPOINT PANEL TO MAP MARKERS INTO THE INTERVAL BETWEEN D9S60 AND ABL, Annals of Human Genetics, 61, 1997, pp. 219-220
FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34
Authors: MCINTOSH L CLOUGH MV SCHAFFER AA PUFFENBERGER EG HORTON VK PETERS K ABBOTT MH ROIG CM CUTONE S OZELIUS L KWIATKOWSKI DJ PYERITZ RE BROWN LJ PAULI RM MCCORMICK MK FRANCOMANO CA
Citation: L. Mcintosh et al., FINE MAPPING OF THE NAIL-PATELLA SYNDROME LOCUS AT 9Q34, American journal of human genetics, 60(1), 1997, pp. 133-142
GENETIC-ANALYSIS OF IDIOPATHIC TORSION DYSTONIA IN ASHKENAZI JEWS ANDTHEIR RECENT DESCENT FROM A SMALL FOUNDER POPULATION
Authors: RISCH N DELEON D OZELIUS L KRAMER P ALMASY L SINGER B FAHN S BREAKEFIELD X BRESSMAN S
Citation: N. Risch et al., GENETIC-ANALYSIS OF IDIOPATHIC TORSION DYSTONIA IN ASHKENAZI JEWS ANDTHEIR RECENT DESCENT FROM A SMALL FOUNDER POPULATION, Nature genetics, 9(2), 1995, pp. 152-159
ITD IN ASHKENAZI JEWS - GENETIC DRIFT OR SELECTION - REPLY
Authors: RISCH N DELEON D FAHN S BRESSMAN S OZELIUS L BREAKEFIELD X KRAMER P ALMASY L SINGER B
Citation: N. Risch et al., ITD IN ASHKENAZI JEWS - GENETIC DRIFT OR SELECTION - REPLY, Nature genetics, 11(1), 1995, pp. 14-15
ADULT-ONSET IDIOPATHIC TORSION DYSTONIA IS EXCLUDED FROM THE DYT1 REGION (9Q34) IN A SWEDISH FAMILY
Authors: HOLMGREN G OZELIUS L FORSGREN L ALMAY BGL HOLMBERG M KRAMER P FAHN S BREAKEFIELD XO
Citation: G. Holmgren et al., ADULT-ONSET IDIOPATHIC TORSION DYSTONIA IS EXCLUDED FROM THE DYT1 REGION (9Q34) IN A SWEDISH FAMILY, Journal of Neurology, Neurosurgery and Psychiatry, 59(2), 1995, pp. 178-181
PHYSICAL MAPPING OF HUMAN-CHROMOSOME SEGMENT 9Q34
Authors: CUTONE S RUTTER M OZELIUS L MURRELL J BUCKLER A MCCORMICK MK
Citation: S. Cutone et al., PHYSICAL MAPPING OF HUMAN-CHROMOSOME SEGMENT 9Q34, American journal of human genetics, 57(4), 1995, pp. 1495-1495
GENETIC-LINKAGE STUDIES IN AUTOSOMAL-DOMINANT PARKINSONISM - EVALUATION OF 7 CANDIDATE GENES
Authors: GASSER T WSZOLEK ZK TROFATTER J OZELIUS L UITTI RJ LEE CS GUSELLA J PFEIFFER RF CALNE DB BREAKEFIELD XO
Citation: T. Gasser et al., GENETIC-LINKAGE STUDIES IN AUTOSOMAL-DOMINANT PARKINSONISM - EVALUATION OF 7 CANDIDATE GENES, Annals of neurology, 36(3), 1994, pp. 387-396
THE GENE FOR FAMILIAL DYSTONIA WITH MYOCLONIC JERKS RESPONSIVE TO ALCOHOL IS NOT LOCATED ON THE DISTAL END OF 9Q
Authors: WAHLSTROM J OZELIUS L KRAMER P KYLLERMAN M SCHUBACK D FORSGREN L HOLMGREN G DRUGGE U SANNER G FAHN S BREAKEFIELD XO
Citation: J. Wahlstrom et al., THE GENE FOR FAMILIAL DYSTONIA WITH MYOCLONIC JERKS RESPONSIVE TO ALCOHOL IS NOT LOCATED ON THE DISTAL END OF 9Q, Clinical genetics, 45(2), 1994, pp. 88-92
A HIGH-RESOLUTION LINKAGE MAP OF HUMAN 9Q34.1
Authors: HENSKE EP OZELIUS L GUSELLA JF HAINES JL KWIATKOWSKI DJ
Citation: Ep. Henske et al., A HIGH-RESOLUTION LINKAGE MAP OF HUMAN 9Q34.1, Genomics, 17(3), 1993, pp. 587-591
PHENOTYPIC-EXPRESSION OF THE DYT1 GENE - WHO IS THE CARRIER
Authors: DELEON D KRAMER P OZELIUS L BREAKEFIELD X FAHN S BRESSMAN SB
Citation: D. Deleon et al., PHENOTYPIC-EXPRESSION OF THE DYT1 GENE - WHO IS THE CARRIER, Annals of neurology, 34(2), 1993, pp. 301-301
A HIGH-RESOLUTION LINKAGE MAP OF HUMAN 9Q34.1
Authors: HENSKE EP OZELIUS L GUSELLA JF HAINES JL KWIATKOWSKI DJ
Citation: Ep. Henske et al., A HIGH-RESOLUTION LINKAGE MAP OF HUMAN 9Q34.1, Cytogenetics and cell genetics, 64(2), 1993, pp. 115-115
DYSTONIA GENE (DYT1) ON CHROMOSOME-9Q34 APPEARS TO BE RESPONSIBLE FORMOST EARLY-ONSET CASES
Authors: OZELIUS L KRAMER P BRESSMAN S HEWETT J DELEON D RISCH N FAHN S BREAKEFIELD X
Citation: L. Ozelius et al., DYSTONIA GENE (DYT1) ON CHROMOSOME-9Q34 APPEARS TO BE RESPONSIBLE FORMOST EARLY-ONSET CASES, Cytogenetics and cell genetics, 64(2), 1993, pp. 117-117
EVIDENCE FOR GENETIC-HETEROGENEITY IN IDIOPATHIC TORSION DYSTONIA (ITD)
Authors: BRESSMAN SB HEIMAN G HUNT A OZELIUS L NYGAARD T BRIN M MOSKOWITZ CB DELEON D BURKE RE FAHN S RISCH N BREAKEFIELD XO KRAMER P
Citation: Sb. Bressman et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN IDIOPATHIC TORSION DYSTONIA (ITD), Neurology, 43(4), 1993, pp. 330-330
MOST EARLY-ONSET CASES OF DYSTONIA ARE CAUSED BY THE DYT1 GENE ON CHROMO-9Q34
Authors: OZELIUS L BRESSMAN S GASSER T DELEON D HEWETT J HEIMAN G HUNT A NYGARRD T MOSKOWITZ C BRIN M FAHN S BREAKEFIELD XO KRAMER P
Citation: L. Ozelius et al., MOST EARLY-ONSET CASES OF DYSTONIA ARE CAUSED BY THE DYT1 GENE ON CHROMO-9Q34, American journal of human genetics, 53(3), 1993, pp. 840-840
DETAILED GENETIC AND PHYSICAL MAPPING OF THE TUBEROUS SCLEROSIS REGION OF 9Q34
Authors: HENSKE EP OZELIUS L GUSELLA JF HAINES JL KWIATKOWSKI DJ
Citation: Ep. Henske et al., DETAILED GENETIC AND PHYSICAL MAPPING OF THE TUBEROUS SCLEROSIS REGION OF 9Q34, American journal of human genetics, 53(3), 1993, pp. 1303-1303
Risultati: 1-17 |