AAAAAA

   
Results: 1-25 | 26-50 | 51-68
Results: 1-25/68
A NOVEL POTASSIUM CHANNEL GENE, KCNQ2, IS MUTATED IN AN INHERITED EPILEPSY OF NEWBORNS
Authors: SINGH NA CHARLIER C STAUFFER D DUPONT BR LEACH RJ MELIS R RONEN GM BJERRE I QUATTLEBAUM T MURPHY JV MCHARG ML GAGNON D ROSALES TO PEIFFER A ANDERSON VE LEPPERT M
Citation: Na. Singh et al., A NOVEL POTASSIUM CHANNEL GENE, KCNQ2, IS MUTATED IN AN INHERITED EPILEPSY OF NEWBORNS, Nature genetics, 18(1), 1998, pp. 25-29
A PORE MUTATION IN A NOVEL KQT-LIKE POTASSIUM CHANNEL GENE IN AN IDIOPATHIC EPILEPSY FAMILY
Authors: CHARLIER C SINGH NA RYAN SG LEWIS TB REUS BE LEACH RJ LEPPERT M
Citation: C. Charlier et al., A PORE MUTATION IN A NOVEL KQT-LIKE POTASSIUM CHANNEL GENE IN AN IDIOPATHIC EPILEPSY FAMILY, Nature genetics, 18(1), 1998, pp. 53-55
FURTHER CHARACTERIZATION OF THE MURINE COLLAGENASE (TYPE IVB) GENE PROMOTER AND ANALYSIS OF MESSENGER-RNA EXPRESSION IN MURINE TISSUES
Authors: ROACH J CHOI SJ SCHAUB RL LEACH RJ ROODMAN GD REDDY SV
Citation: J. Roach et al., FURTHER CHARACTERIZATION OF THE MURINE COLLAGENASE (TYPE IVB) GENE PROMOTER AND ANALYSIS OF MESSENGER-RNA EXPRESSION IN MURINE TISSUES, Gene, 208(2), 1998, pp. 117-122
NEUROLOGICAL FEATURES OF 18Q- SYNDROME - A PROSPECTIVE ANALYSIS
Authors: GAY CT MULLER S CODY JD HARDIES LJ GHIDONI PD KAYE CI LEACH RJ
Citation: Ct. Gay et al., NEUROLOGICAL FEATURES OF 18Q- SYNDROME - A PROSPECTIVE ANALYSIS, Annals of neurology, 44(3), 1998, pp. 27-27
CLONING, CHROMOSOMAL LOCALIZATION AND PROMOTER ANALYSIS OF THE HUMAN TRANSCRIPTION FACTOR YY1
Authors: YAO YL DUPONT BR GHOSH S FANG Y LEACH RJ SETO E
Citation: Yl. Yao et al., CLONING, CHROMOSOMAL LOCALIZATION AND PROMOTER ANALYSIS OF THE HUMAN TRANSCRIPTION FACTOR YY1, Nucleic acids research, 26(16), 1998, pp. 3776-3783
CHROMOSOME 18Q PARACENTRIC INVERSION IN A FAMILY WITH MENTAL-RETARDATION AND HEARING-LOSS
Authors: KEPPLERNOREUIL KM CARROLL AJ FINLEY SC DESCARTES M CODY JD DUPONT BR GAY CT LEACH RJ
Citation: Km. Kepplernoreuil et al., CHROMOSOME 18Q PARACENTRIC INVERSION IN A FAMILY WITH MENTAL-RETARDATION AND HEARING-LOSS, American journal of medical genetics, 76(5), 1998, pp. 372-378
EVIDENCE FOR A NOVEL OSTEOSARCOMA TUMOR-SUPPRESSOR GENE IN THE CHROMOSOME-18 REGION GENETICALLY LINKED WITH PAGET-DISEASE OF BONE
Authors: NELLISSERY MJ PADALECKI SS BRKANAC Z SINGER FR ROODMAN GD UNNI KK LEACH RJ HANSEN MF
Citation: Mj. Nellissery et al., EVIDENCE FOR A NOVEL OSTEOSARCOMA TUMOR-SUPPRESSOR GENE IN THE CHROMOSOME-18 REGION GENETICALLY LINKED WITH PAGET-DISEASE OF BONE, American journal of human genetics, 63(3), 1998, pp. 817-824
IDENTIFICATION OF CRYPTIC REARRANGEMENTS IN PATIENTS WITH 18Q- DELETION SYNDROME
Authors: BRKANAC Z CODY JD LEACH RJ DUPONT BR
Citation: Z. Brkanac et al., IDENTIFICATION OF CRYPTIC REARRANGEMENTS IN PATIENTS WITH 18Q- DELETION SYNDROME, American journal of human genetics, 62(6), 1998, pp. 1500-1506
GALANIN RECEPTOR-1 GENE (GALNR1) IS TIGHTLY LINKED TO THE MYELIN BASIC-PROTEIN GENE ON CHROMOSOME-18 IN MOUSE
Authors: SIMONEAUX DK LEACH RJ OCONNELL P
Citation: Dk. Simoneaux et al., GALANIN RECEPTOR-1 GENE (GALNR1) IS TIGHTLY LINKED TO THE MYELIN BASIC-PROTEIN GENE ON CHROMOSOME-18 IN MOUSE, Mammalian genome, 8(11), 1997, pp. 875-875
AMELOBLASTIN GENE (AMBN) MAPS WITHIN THE CRITICAL REGION FOR AUTOSOMAL-DOMINANT AMELOGENESIS IMPERFECTA AT CHROMOSOME 4Q21
Authors: MACDOUGALL M DUPONT BR SIMMONS D REUS B KREBSBACH P KARRMAN C HOLMGREN G LEACH RJ FORSMAN K
Citation: M. Macdougall et al., AMELOBLASTIN GENE (AMBN) MAPS WITHIN THE CRITICAL REGION FOR AUTOSOMAL-DOMINANT AMELOGENESIS IMPERFECTA AT CHROMOSOME 4Q21, Genomics, 41(1), 1997, pp. 115-118
COLOCALIZATION ON CHROMOSOME-18 OF A NOVEL OSTEOSARCOMA TUMOR-SUPPRESSOR GENE WITH A PREDISPOSITION GENE FOR PAGETS-DISEASE
Authors: HANSEN MF NELLISSERY M CODY JD SINGER FR ROODMAN GD LEACH RJ
Citation: Mf. Hansen et al., COLOCALIZATION ON CHROMOSOME-18 OF A NOVEL OSTEOSARCOMA TUMOR-SUPPRESSOR GENE WITH A PREDISPOSITION GENE FOR PAGETS-DISEASE, Journal of bone and mineral research, 12, 1997, pp. 21-21
MAGNETIC-RESONANCE-IMAGING DEMONSTRATES INCOMPLETE MYELINATION IN 18Q- SYNDROME - EVIDENCE FOR MYELIN BASIC-PROTEIN HAPLOINSUFFICIENCY
Authors: GAY CT HARDIES LJ RAUCH RA LANCASTER JL PLAETKE R DUPONT BR CODY JD CORNELL JE HERNDON RC GHIDONI PD SCHIFF JM KAYE CI LEACH RJ FOX PT
Citation: Ct. Gay et al., MAGNETIC-RESONANCE-IMAGING DEMONSTRATES INCOMPLETE MYELINATION IN 18Q- SYNDROME - EVIDENCE FOR MYELIN BASIC-PROTEIN HAPLOINSUFFICIENCY, American journal of medical genetics, 74(4), 1997, pp. 422-431
GROWTH-HORMONE INSUFFICIENCY ASSOCIATED WITH HAPLOINSUFFICIENCY AT 18Q23
Authors: CODY JD HALE DE BRKANAC Z KAYE CI LEACH RJ
Citation: Jd. Cody et al., GROWTH-HORMONE INSUFFICIENCY ASSOCIATED WITH HAPLOINSUFFICIENCY AT 18Q23, American journal of medical genetics, 71(4), 1997, pp. 420-425
PREFERENTIAL LOSS OF THE PATERNAL ALLELES IN THE 18Q- SYNDROME
Authors: CODY JD PIERCE JF BRKANAC Z PLAETKE R GHIDONI PD KAYE CI LEACH RJ
Citation: Jd. Cody et al., PREFERENTIAL LOSS OF THE PATERNAL ALLELES IN THE 18Q- SYNDROME, American journal of medical genetics, 69(3), 1997, pp. 280-286
GROWTH-HORMONE DEFICIENCY ASSOCIATED IN THE 18Q DELETION SYNDROME
Authors: GHIDONI PD HALE DE CODY JD GAY CT THOMPSON NM MCCLURE EB DANNEY MM LEACH RJ KAYE CI
Citation: Pd. Ghidoni et al., GROWTH-HORMONE DEFICIENCY ASSOCIATED IN THE 18Q DELETION SYNDROME, American journal of medical genetics, 69(1), 1997, pp. 7-12
AMELOBLASTIN - CANDIDATE GENE FOR THE AUTOSOMAL-DOMINANT AMELOGENESISIMPERFECTA (ALH2)
Authors: SIMMONS D DUPONT B LEACH RJ KARRMAN C BACKMAN B HOLMGREN G FORSMAN K MACDOUGALL M
Citation: D. Simmons et al., AMELOBLASTIN - CANDIDATE GENE FOR THE AUTOSOMAL-DOMINANT AMELOGENESISIMPERFECTA (ALH2), Journal of dental research, 76, 1997, pp. 114-114
GENETIC-LINKAGE OF PAGET-DISEASE OF THE BONE TO CHROMOSOME 18Q
Authors: CODY JD SINGER FR ROODMAN GD OTTERUND B LEWIS TB LEPPERT M LEACH RJ
Citation: Jd. Cody et al., GENETIC-LINKAGE OF PAGET-DISEASE OF THE BONE TO CHROMOSOME 18Q, American journal of human genetics, 61(5), 1997, pp. 1117-1122
ASSIGNMENT OF THE HUMAN NUCLEAR HORMONE-RECEPTOR, NUC1 (PPARD), TO CHROMOSOME 6P21.1-P21.2
Authors: YOSHIKAWA T BRKANAC Z DUPONT BR XING GQ LEACH RJ DETERAWADLEIGH SD
Citation: T. Yoshikawa et al., ASSIGNMENT OF THE HUMAN NUCLEAR HORMONE-RECEPTOR, NUC1 (PPARD), TO CHROMOSOME 6P21.1-P21.2, Genomics, 35(3), 1996, pp. 637-638
NEW VARIANTS OF THE HUMAN AND RAT NUCLEAR HORMONE-RECEPTOR, TR4 - EXPRESSION AND CHROMOSOMAL LOCALIZATION OF THE HUMAN GENE
Authors: YOSHIKAWA T DUPONT BR LEACH RJ DETERAWADLEIGH SD
Citation: T. Yoshikawa et al., NEW VARIANTS OF THE HUMAN AND RAT NUCLEAR HORMONE-RECEPTOR, TR4 - EXPRESSION AND CHROMOSOMAL LOCALIZATION OF THE HUMAN GENE, Genomics, 35(2), 1996, pp. 361-366
LOCALIZATION OF A GENE FOR A GLUTAMATE BINDING SUBUNIT OF A NMDA RECEPTOR (GRINA) TO 8Q24
Authors: LEWIS TB WOOD S MICHAELIS EK DUPONT BR LEACH RJ
Citation: Tb. Lewis et al., LOCALIZATION OF A GENE FOR A GLUTAMATE BINDING SUBUNIT OF A NMDA RECEPTOR (GRINA) TO 8Q24, Genomics, 32(1), 1996, pp. 131-133
EVIDENCE OF A LOCUS FOR PAGETS-DISEASE OF BONE ON HUMAN-CHROMOSOME 18Q
Authors: LEACH RJ SINGER FR LEWIS TB CODY JD REDDY SV WHYTE MP ROODMAN GD
Citation: Rj. Leach et al., EVIDENCE OF A LOCUS FOR PAGETS-DISEASE OF BONE ON HUMAN-CHROMOSOME 18Q, Journal of bone and mineral research, 11, 1996, pp. 19-19
EVIDENCE OF A 3RD LOCUS FOR BENIGN FAMILIAL CONVULSIONS
Authors: LEWIS TB SHEVELL MI ANDERMANN E RYAN SG LEACH RJ
Citation: Tb. Lewis et al., EVIDENCE OF A 3RD LOCUS FOR BENIGN FAMILIAL CONVULSIONS, Journal of child neurology, 11(3), 1996, pp. 211-214
REPORT OF THE 3RD INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-8 MAPPING 1996
Authors: LEACH RJ BANGA SS BENOTHAME K CHUGHTAI S CLARKE R DAIGER SP KOLEHMAINEN J KUMAR S KUO M MACOSKA J MADA N NAYLOR SL NUNES M OCONNELL P PEBUSQUE MJ PEKKEL V PORTER CJ SIMONS CT SOHOCKI MM TRAPMAN J WELLS D WESTBROOK C WOOD S
Citation: Rj. Leach et al., REPORT OF THE 3RD INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-8 MAPPING 1996, Cytogenetics and cell genetics, 75(2-3), 1996, pp. 71-84
ASSIGNMENT OF DMP1 TO HUMAN-CHROMOSOME-4 BAND Q21 BY IN-SITU HYBRIDIZATION
Authors: MACDOUGALL M DUPONT BR SIMMONS D LEACH RJ
Citation: M. Macdougall et al., ASSIGNMENT OF DMP1 TO HUMAN-CHROMOSOME-4 BAND Q21 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 74(3), 1996, pp. 189-189
ASSIGNMENT OF MATRIX METALLOPROTEINASE-9 (MMP9) TO MOUSE CHROMOSOME-2BANDS H1-H2
Authors: DUPONT BR LINN R KNIGHT CB ROODMAN GD SAKAGUCHI AY LALLEY PA FOURNIER REK LEACH RJ
Citation: Br. Dupont et al., ASSIGNMENT OF MATRIX METALLOPROTEINASE-9 (MMP9) TO MOUSE CHROMOSOME-2BANDS H1-H2, Cytogenetics and cell genetics, 74(1-2), 1996, pp. 118-119
Risultati: 1-25 | 26-50 | 51-68