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Results: 1-25 | 26-50 | 51-55
Results: 26-50/55
GENERATION OF AN INTEGRATED TRANSCRIPTION MAP OF THE BRCA2 REGION ON CHROMOSOME 13Q12-Q13
Authors: COUCH FJ ROMMENS JM NEUHAUSEN SL BELANGER C DUMONT M ABEL K BELL R BERRY S BOGDEN R CANNONABRIGHT L FARID L FRYE C HATTIER T JANECKI T JIANG P KEHRER R LEBLANC JF MCARTHURMORRISON J MCSWEENEY D MIKI Y PENG Y SAMSON C SCHROEDER M SNYDER SC STRINGFELLOW M STROUP C SWEDLUND B SWENSEN J TENG D THAKUR S TRAN T TRANCHANT I WELVERFELDHAUS J WONG AKC SHIZUYA H LABRIE F SKOLNICK MH GOLDGAR DE KAMB A WEBER BL TAVTIGIAN SV SIMARD J
Citation: Fj. Couch et al., GENERATION OF AN INTEGRATED TRANSCRIPTION MAP OF THE BRCA2 REGION ON CHROMOSOME 13Q12-Q13, Genomics, 36(1), 1996, pp. 86-99
HEREDITARY HEMOCHROMATOSIS - GENERATION OF A TRANSCRIPTION MAP WITHINA REFINED AND EXTENDED MAP OF THE HLA CLASS-I REGION
Authors: TOTARO A ROMMENS JM GRIFA A LUNARDI C CARELLA M HUIZENGA JJ ROETTO A CAMASCHELLA C DESANDRE G GASPARINI P
Citation: A. Totaro et al., HEREDITARY HEMOCHROMATOSIS - GENERATION OF A TRANSCRIPTION MAP WITHINA REFINED AND EXTENDED MAP OF THE HLA CLASS-I REGION, Genomics, 31(3), 1996, pp. 319-326
ATPASE ACTIVITY OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
Authors: LI CH RAMJEESINGH M WANG W GARAMI E HEWRYK M LEE D ROMMENS JM GALLEY K BEAR CE
Citation: Ch. Li et al., ATPASE ACTIVITY OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR, The Journal of biological chemistry, 271(45), 1996, pp. 28463-28468
CLONING AND CHARACTERIZATION OF PDK4 ON 7Q21.3 ENCODING A 4TH PYRUVATE-DEHYDROGENASE KINASE ISOENZYME IN HUMAN
Authors: ROWLES J SCHERER SW XI T MAJER M NICKLE DC ROMMENS JM POPOV KM HARRIS RA RIEBOW NL XIA J TSUI LC BOGARDUS C PROCHAZKA M
Citation: J. Rowles et al., CLONING AND CHARACTERIZATION OF PDK4 ON 7Q21.3 ENCODING A 4TH PYRUVATE-DEHYDROGENASE KINASE ISOENZYME IN HUMAN, The Journal of biological chemistry, 271(37), 1996, pp. 22376-22382
MUTATION OF THE NARROW REGION OF THE CFTR CHANNEL PORE
Authors: LINSDELL P ROMMENS JM HOU YX CHANG XB TSUI LC RIORDAN JR HANRAHAN JW
Citation: P. Linsdell et al., MUTATION OF THE NARROW REGION OF THE CFTR CHANNEL PORE, Biophysical journal, 70(2), 1996, pp. 229-229
2 HOMOLOGOUS GENES ASSOCIATED WITH EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE
Authors: GEORGEHYSLOP PS ROGAEV EI SHERRINGTON R ROGAEVA EA ROGAEVA G LEVESQUE G IKEDA M LIANG Y CHI H LIN C HOLMAN K FRASER PE ROMMENS JM
Citation: Ps. Georgehyslop et al., 2 HOMOLOGOUS GENES ASSOCIATED WITH EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE, Biological psychiatry, 39(7), 1996, pp. 215-215
GENERATION OF A TRANSCRIPTION MAP AT THE HSD17B LOCUS CENTROMERIC TO BRCA1 AT 17Q21
Authors: ROMMENS JM DUROCHER F MCARTHUR J TONIN P LEBLANC JF ALLEN J SAMSON C FERRI L NAROD S MORGAN K SIMARD J
Citation: Jm. Rommens et al., GENERATION OF A TRANSCRIPTION MAP AT THE HSD17B LOCUS CENTROMERIC TO BRCA1 AT 17Q21, Genomics, 28(3), 1995, pp. 530-542
GENOMIC ORGANIZATION OF THE HUMAN ALPHA-ADDUCIN GENE AND ITS ALTERNATELY SPLICED ISOFORMS
Authors: LIN BY NASIR J MCDONALD H GRAHAM R ROMMENS JM GOLDBERG YP HAYDEN MR
Citation: By. Lin et al., GENOMIC ORGANIZATION OF THE HUMAN ALPHA-ADDUCIN GENE AND ITS ALTERNATELY SPLICED ISOFORMS, Genomics, 25(1), 1995, pp. 93-99
PHYSICAL AND TRANSCRIPTION MAP OF A 25-MB REGION ON HUMAN-CHROMOSOME-7 (REGION Q21-]Q22)
Authors: SCHERER SW ROMMENS JM VANDENBERG A TRAVERSO G FAZIL K EVANS JP MAR L OSBORNE L TSUI LC
Citation: Sw. Scherer et al., PHYSICAL AND TRANSCRIPTION MAP OF A 25-MB REGION ON HUMAN-CHROMOSOME-7 (REGION Q21-]Q22), Cytogenetics and cell genetics, 71(1), 1995, pp. 22-22
FAMILIAL ALZHEIMERS-DISEASE IN KINDREDS WITH MISSENSE MUTATIONS IN A GENE ON CHROMOSOME-1 RELATED TO THE ALZHEIMERS-DISEASE TYPE-3 GENE
Authors: ROGAEV EI SHERRINGTON R ROGAEVA EA LEVESQUE G IKEDA M LIANG Y CHI H LIN C HOLMAN K TSUDA T MAR L SORBI S NACMIAS B PIACENTINI S AMADUCCI L CHUMAKOV I COHEN D LANNFELT L FRASER PE ROMMENS JM STGEORGEHYSLOP PH
Citation: Ei. Rogaev et al., FAMILIAL ALZHEIMERS-DISEASE IN KINDREDS WITH MISSENSE MUTATIONS IN A GENE ON CHROMOSOME-1 RELATED TO THE ALZHEIMERS-DISEASE TYPE-3 GENE, Nature, 376(6543), 1995, pp. 775-778
CLONING OF A GENE BEARING MISSENSE MUTATIONS IN EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE
Authors: SHERRINGTON R ROGAEV EI LIANG Y ROGAEVA EA LEVESQUE G IKEDA M CHI H LIN C LI G HOLMAN K TSUDA T MAR L FONCIN JF BRUNI AC MONTESI MP SORBI S RAINERO I PINESSI L NEE L CHUMAKOV I POLLEN D BROOKES A SANSEAU P POLINSKY RJ WASCO W DASILVA HAR HAINES JL PERICAKVANCE MA TANZI RE ROSES AD FRASER PE ROMMENS JM STGEORGEHYSLOP PH
Citation: R. Sherrington et al., CLONING OF A GENE BEARING MISSENSE MUTATIONS IN EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE, Nature, 375(6534), 1995, pp. 754-760
AN INTEGRATED MAP OF THE LONG ARM OF HUMAN-CHROMOSOME-7 - CLOSING THEGAPS
Authors: SCHERER S TRAVERSO G HUIZENGA J SODER S STREGGER S OSBORNE L BELLONI E HENG H ROMMENS JM TSUI LC
Citation: S. Scherer et al., AN INTEGRATED MAP OF THE LONG ARM OF HUMAN-CHROMOSOME-7 - CLOSING THEGAPS, American journal of human genetics, 57(4), 1995, pp. 71-71
AN INTEGRATED PHYSICAL AND GENETIC-MAP OF 14Q32
Authors: BILLINGSLEY GD ROUX AF HERBRICK JS ROMMENS JM COX DW
Citation: Gd. Billingsley et al., AN INTEGRATED PHYSICAL AND GENETIC-MAP OF 14Q32, American journal of human genetics, 57(4), 1995, pp. 1489-1489
THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE (VOL 5, PG 327, 1993)
Authors: BULL PC THOMAS GR ROMMENS JM FORBES JR COX DW
Citation: Pc. Bull et al., THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE (VOL 5, PG 327, 1993), Nature genetics, 6(2), 1994, pp. 214-214
SEQUENCE OF THE MURINE HUNTINGTON DISEASE GENE - EVIDENCE FOR CONSERVATION, ALTERNATE SPLICING AND POLYMORPHISM IN A TRIPLET (CCG) REPEAT (VOL 3, PG 85, 1994)
Authors: LIN B NASIR J MACDONALD H HUTCHINSON G GRAHAM RK ROMMENS JM HAYDEN MR
Citation: B. Lin et al., SEQUENCE OF THE MURINE HUNTINGTON DISEASE GENE - EVIDENCE FOR CONSERVATION, ALTERNATE SPLICING AND POLYMORPHISM IN A TRIPLET (CCG) REPEAT (VOL 3, PG 85, 1994), Human molecular genetics, 3(3), 1994, pp. 530-530
SEQUENCE OF THE MURINE HUNTINGTON DISEASE GENE - EVIDENCE FOR CONSERVATION, AND POLYMORPHISM IN A TRIPLET (CCG) REPEAT ALTERNATE SPLICING
Authors: LIN BY NASIR J MACDONALD H HUTCHINSON G GRAHAM RK ROMMENS JM HAYDEN MR
Citation: By. Lin et al., SEQUENCE OF THE MURINE HUNTINGTON DISEASE GENE - EVIDENCE FOR CONSERVATION, AND POLYMORPHISM IN A TRIPLET (CCG) REPEAT ALTERNATE SPLICING, Human molecular genetics, 3(1), 1994, pp. 85-92
ACTIVATION OF NORMAL AND MUTANT CFTR CHANNELS BY PHOSPHATASE INHIBITORS
Authors: BECQ F JENSEN TJ ROMMENS JM CHANG XB HOU YX TSUI LC RIORDAN JR HANRAHAN JW
Citation: F. Becq et al., ACTIVATION OF NORMAL AND MUTANT CFTR CHANNELS BY PHOSPHATASE INHIBITORS, The FASEB journal, 8(4), 1994, pp. 10000293-10000293
IDENTIFICATION OF A COPPER-BINDING ATPASE HOMOLOGOUS TO THE MENKES GENE - A CANDIDATE FOR THE WILSON DISEASE GENE
Authors: COX DW BULL PC THOMAS GR ROMMENS JM FORBES JR
Citation: Dw. Cox et al., IDENTIFICATION OF A COPPER-BINDING ATPASE HOMOLOGOUS TO THE MENKES GENE - A CANDIDATE FOR THE WILSON DISEASE GENE, Journal of cellular biochemistry, 1994, pp. 206-206
PHOSPHATASE INHIBITORS ACTIVATE NORMAL AND DEFECTIVE CFTR CHLORIDE CHANNELS
Authors: BECQ F JENSEN TJ CHANG XB SAVOIA A ROMMENS JM TSUI LC BUCHWALD M RIORDAN JR HANRAHAN JW
Citation: F. Becq et al., PHOSPHATASE INHIBITORS ACTIVATE NORMAL AND DEFECTIVE CFTR CHLORIDE CHANNELS, Proceedings of the National Academy of Sciences of the United Statesof America, 91(19), 1994, pp. 9160-9164
STUDIES OF CFTR CHANNELS WITH DISEASE-CAUSING MUTATIONS
Authors: HANRAHAN JW TABCHARANI JA BECQ F MATHEWS CJ ROMMENS JM CHANG XB TSUI LC RIORDAN JR
Citation: Jw. Hanrahan et al., STUDIES OF CFTR CHANNELS WITH DISEASE-CAUSING MUTATIONS, The Journal of general physiology, 104(6), 1994, pp. 10000008-10000008
THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE
Authors: BULL PC THOMAS GR ROMMENS JM FORBES JR COX DW
Citation: Pc. Bull et al., THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE, Nature genetics, 5(4), 1993, pp. 327-337
A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE (VOL 2, PG 901, 1993)
Authors: ROMMENS JM LIN B HUTCHINSON GB ANDREW SE GOLDBERG YP GLAVES ML GRAHAM R LAI V MCARTHUR J NASIR J THEILMANN J MCDONALD H KALCHMAN M CLARKE LA SCHAPPERT K HAYDEN MR
Citation: Jm. Rommens et al., A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE (VOL 2, PG 901, 1993), Human molecular genetics, 2(9), 1993, pp. 1524-1524
A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE
Authors: ROMMENS JM LIN B HUTCHINSON GB ANDREW SE GOLDBERG YP GLAVES ML GRAHAM R LAI V MCARTHUR J NASIR J THEILMANN J MCDONALD H KALCHMAN M CLARKE LA SCHAPPERT K HAYDEN MR
Citation: Jm. Rommens et al., A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE, Human molecular genetics, 2(7), 1993, pp. 901-907
ANALYSIS OF CFTR TRANSCRIPTS IN NASAL EPITHELIAL-CELLS AND LYMPHOBLASTS OF A CYSTIC-FIBROSIS PATIENT WITH 621-]T AND 711+1G-]T MUTATIONS(1G)
Authors: ZIELENSKI J BOZON D MARKIEWICZ D AUBIN G SIMARD F ROMMENS JM TSUI LC
Citation: J. Zielenski et al., ANALYSIS OF CFTR TRANSCRIPTS IN NASAL EPITHELIAL-CELLS AND LYMPHOBLASTS OF A CYSTIC-FIBROSIS PATIENT WITH 621-]T AND 711+1G-]T MUTATIONS(1G), Human molecular genetics, 2(6), 1993, pp. 683-687
REFINED LOCALIZATION AND YEAST ARTIFICIAL CHROMOSOME (YAC) CONTIG-MAPPING OF GENES AND DNA SEGMENTS IN THE 7Q21-Q32 REGION
Authors: SCHERER SW ROMMENS JM SODER S WONG E PLAVSIC N TOMPKINS BJF BEATTIE A KIM J TSUI LC
Citation: Sw. Scherer et al., REFINED LOCALIZATION AND YEAST ARTIFICIAL CHROMOSOME (YAC) CONTIG-MAPPING OF GENES AND DNA SEGMENTS IN THE 7Q21-Q32 REGION, Human molecular genetics, 2(6), 1993, pp. 751-760
Risultati: 1-25 | 26-50 | 51-55