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Results: 1-25 | 26-29
Results: 1-25/29
HUMAN CALCIUM-ACTIVATED POTASSIUM CHANNEL GENE KCNN4 MAPS TO CHROMOSOME 19Q13.2 IN THE REGION DELETED IN DIAMOND-BLACKFAN ANEMIA
Authors: GHANSHANI S COLEMAN M GUSTAVSSON P WU ACL GARGUS JJ GUTMAN GA DAHL N MOHRENWEISER H CHANDY KG
Citation: S. Ghanshani et al., HUMAN CALCIUM-ACTIVATED POTASSIUM CHANNEL GENE KCNN4 MAPS TO CHROMOSOME 19Q13.2 IN THE REGION DELETED IN DIAMOND-BLACKFAN ANEMIA, Genomics (San Diego, Calif.), 51(1), 1998, pp. 160-161
MUTATIONS IN HAMSTER SINGLE-STRAND BREAK REPAIR GENE XRCC1 CAUSING DEFECTIVE-DNA REPAIR
Authors: SHEN NR ZDZIENICKA MZ MOHRENWEISER H THOMPSON LH THELEN MP
Citation: Nr. Shen et al., MUTATIONS IN HAMSTER SINGLE-STRAND BREAK REPAIR GENE XRCC1 CAUSING DEFECTIVE-DNA REPAIR, Nucleic acids research, 26(4), 1998, pp. 1032-1037
GENOMIC ORGANIZATION, CHROMOSOMAL LOCALIZATION, TISSUE DISTRIBUTION, AND BIOPHYSICAL CHARACTERIZATION OF A NOVEL MAMMALIAN SHAKER-RELATED VOLTAGE-GATED POTASSIUM CHANNEL, KV1.7
Authors: KALMAN K NGUYEN A TSENGCRANK J DUKES ID CHANDY G HUSTAD CM COPELAND NG JENKINS NA MOHRENWEISER H BRANDRIFF B CAHALAN M GUTMAN GA CHANDY KG
Citation: K. Kalman et al., GENOMIC ORGANIZATION, CHROMOSOMAL LOCALIZATION, TISSUE DISTRIBUTION, AND BIOPHYSICAL CHARACTERIZATION OF A NOVEL MAMMALIAN SHAKER-RELATED VOLTAGE-GATED POTASSIUM CHANNEL, KV1.7, The Journal of biological chemistry, 273(10), 1998, pp. 5851-5857
NONCONSERVATIVE AMINO-ACID SUBSTITUTION VARIANTS EXIST AT POLYMORPHICFREQUENCY IN DNA-REPAIR GENES IN HEALTHY HUMANS
Authors: SHEN MR JONES IM MOHRENWEISER H
Citation: Mr. Shen et al., NONCONSERVATIVE AMINO-ACID SUBSTITUTION VARIANTS EXIST AT POLYMORPHICFREQUENCY IN DNA-REPAIR GENES IN HEALTHY HUMANS, Cancer research, 58(4), 1998, pp. 604-608
HKCA4, ON HUMAN-CHROMOSOME 19Q13.2, ENCODES THE IKCA CHANNEL IN T-LYMPHOCYTES
Authors: GHANSHANI S NGUYEN A MOHRENWEISER H CAHALAN MD CHANDY KG
Citation: S. Ghanshani et al., HKCA4, ON HUMAN-CHROMOSOME 19Q13.2, ENCODES THE IKCA CHANNEL IN T-LYMPHOCYTES, Biophysical journal, 74(2), 1998, pp. 204-204
IRAQI-JEWISH KINDREDS WITH OPTIC ATROPHY PLUS (3-METHYLGLUTACONIC ACIDURIA TYPE-3) DEMONSTRATE LINKAGE DISEQUILIBRIUM WITH THE CTG REPEAT IN THE 3'-UNTRANSLATED REGION OF THE MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE
Authors: NYSTUEN A COSTEFF H ELPELEG ON APTER N BONNETAMIR B MOHRENWEISER H HAIDER N STONE EM SHEFFIELD VC
Citation: A. Nystuen et al., IRAQI-JEWISH KINDREDS WITH OPTIC ATROPHY PLUS (3-METHYLGLUTACONIC ACIDURIA TYPE-3) DEMONSTRATE LINKAGE DISEQUILIBRIUM WITH THE CTG REPEAT IN THE 3'-UNTRANSLATED REGION OF THE MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE, Human molecular genetics, 6(4), 1997, pp. 563-569
A NEW HUMAN GENE-COMPLEX ENCODING THE KILLER-CELL INHIBITORY RECEPTORS AND RELATED MONOCYTE MACROPHAGE RECEPTORS/
Authors: WAGTMANN N ROJO S EICHLER E MOHRENWEISER H LONG EO
Citation: N. Wagtmann et al., A NEW HUMAN GENE-COMPLEX ENCODING THE KILLER-CELL INHIBITORY RECEPTORS AND RELATED MONOCYTE MACROPHAGE RECEPTORS/, Current biology, 7(8), 1997, pp. 615-618
A SYNDROME INVOLVING OPTIC ATROPHY DEMONSTRATES LINKAGE DISEQUILIBRIUM WITH THE CTG REPEAT IN THE 3' UNTRANSLATED REGION OF THE MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE
Authors: NYSTUEN A COSTEFF H BONNETAMIR B HAIDER N MOHRENWEISER H STONE EM SHEFFIELD VC
Citation: A. Nystuen et al., A SYNDROME INVOLVING OPTIC ATROPHY DEMONSTRATES LINKAGE DISEQUILIBRIUM WITH THE CTG REPEAT IN THE 3' UNTRANSLATED REGION OF THE MYOTONIC-DYSTROPHY PROTEIN-KINASE GENE, Investigative ophthalmology & visual science, 38(4), 1997, pp. 1822-1822
AN INTEGRATED GENETIC AND PHYSICAL MAP OF CHROMOSOME-19 AS SUBSTRATE FOR LARGE-SCALE GENOMIC SEQUENCING
Authors: OLSEN AS GORDON LA ASHWORTH LK LAMERDIN JE MCCREADY P WAGNER M LENNON G MOHRENWEISER H CARRANO AV
Citation: As. Olsen et al., AN INTEGRATED GENETIC AND PHYSICAL MAP OF CHROMOSOME-19 AS SUBSTRATE FOR LARGE-SCALE GENOMIC SEQUENCING, American journal of human genetics, 61(4), 1997, pp. 1399-1399
PHYSICAL, TRANSCRIPT, AND GENETIC FINE MAP OF THE CAYMAN CEREBELLAR-ATAXIA REGION ON CHROMOSOME 19P13.3
Authors: NYSTUEN A BENKE PJ MOHRENWEISER H BURMEISTER M STONE EM SHEFFIELD VC
Citation: A. Nystuen et al., PHYSICAL, TRANSCRIPT, AND GENETIC FINE MAP OF THE CAYMAN CEREBELLAR-ATAXIA REGION ON CHROMOSOME 19P13.3, American journal of human genetics, 61(4), 1997, pp. 1682-1682
A 3-MB REGION FOR THE FAMILIAL HEMIPLEGIC MIGRAINE LOCUS ON 19P13.1-P13.2 - EXCLUSION OF PRKCSH AS A CANDIDATE GENE
Authors: OPHOFF RA TERWINDT GM VERGOUWE MN VANEIJK R MOHRENWEISER H LITT M HOFKER MH HAAN J FERRARI MD FRANTS RR
Citation: Ra. Ophoff et al., A 3-MB REGION FOR THE FAMILIAL HEMIPLEGIC MIGRAINE LOCUS ON 19P13.1-P13.2 - EXCLUSION OF PRKCSH AS A CANDIDATE GENE, European journal of human genetics, 4(6), 1996, pp. 321-328
DETAILED COMPARATIVE MAP OF HUMAN-CHROMOSOME 19Q AND RELATED REGIONS OF THE MOUSE GENOME
Authors: STUBBS L CARVER EA SHANNON ME KIM J GEISLER J GENEROSO EE STANFORD BG DUNN WC MOHRENWEISER H ZIMMERMANN W WATT SM ASHWORTH LK
Citation: L. Stubbs et al., DETAILED COMPARATIVE MAP OF HUMAN-CHROMOSOME 19Q AND RELATED REGIONS OF THE MOUSE GENOME, Genomics, 35(3), 1996, pp. 499-508
REPORT OF THE 3RD INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-19 MAPPING 1996
Authors: MOHRENWEISER H OLSEN A ARCHIBALD A BEATTIE C BURMEISTER M LAMERDIN J LENNON G STEWART E STUBBS L WEBER JL JOHNSON K
Citation: H. Mohrenweiser et al., REPORT OF THE 3RD INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-19 MAPPING 1996, Cytogenetics and cell genetics, 74(3), 1996, pp. 162-181
A HIGH-RESOLUTION PHYSICAL MAP OF HUMAN-CHROMOSOME-19
Authors: OLSEN AS ASHWORTH LK GARCIA E JOHNSON S GEORGESCU A GORDON LA CHRISTENSEN M BERGMANN A ELLIOTT J MOHRENWEISER H CARRANO AV
Citation: As. Olsen et al., A HIGH-RESOLUTION PHYSICAL MAP OF HUMAN-CHROMOSOME-19, Cytogenetics and cell genetics, 74(3), 1996, pp. 185-185
DETAILED COMPARATIVE-ANALYSIS OF HUMAN-CHROMOSOME 19Q AND RELATED REGIONS OF THE MOUSE GENOME
Authors: STUBBS L DOYLE J SHANNON M KIM J CARVER E MOHRENWEISER H ASHWORTH L BRANSCOMB E
Citation: L. Stubbs et al., DETAILED COMPARATIVE-ANALYSIS OF HUMAN-CHROMOSOME 19Q AND RELATED REGIONS OF THE MOUSE GENOME, Cytogenetics and cell genetics, 74(3), 1996, pp. 185-186
CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, GENETIC HOMOGENEITY, AND MAPPING OF THE LOCUS WITHIN A 2-CM INTERVAL
Authors: DUCROS A NAGY T ALAMOWITCH S NIBBIO A JOUTEL A VAHEDI K CHABRIAT H IBAZIZEN MT JULIEN J DAVOUS P GOAS JY LYONCAEN O DUBOIS B DUCROCQ X SALSA F RAGNO M BURKHARD P BASSETTI C HUTCHINSON M VERIN M VIADER F CHAPON F LEVASSEUR M MAS JL DELRIEU O MACIAZEK J PRIEUR M MOHRENWEISER H BACH JF BOUSSER MG TOURNIERLASSERVE E
Citation: A. Ducros et al., CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, GENETIC HOMOGENEITY, AND MAPPING OF THE LOCUS WITHIN A 2-CM INTERVAL, American journal of human genetics, 58(1), 1996, pp. 171-181
AN INTEGRATED METRIC PHYSICAL MAP OF HUMAN-CHROMOSOME-19
Authors: ASHWORTH LK BATZER MA BRANDRIFF B BRANSCOMB E DEJONG P GARCIA E GARNES JA GORDON LA LAMERDIN JE LENNON G MOHRENWEISER H OLSEN AS SLEZAK T CARRANO AV
Citation: Lk. Ashworth et al., AN INTEGRATED METRIC PHYSICAL MAP OF HUMAN-CHROMOSOME-19, Nature genetics, 11(4), 1995, pp. 422-427
PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL LACHMAN RS GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE, Nature genetics, 10(3), 1995, pp. 330-336
MOSAICISM - THE EMBRYO AS A TARGET FOR INDUCTION OF MUTATIONS LEADINGTO CANCER AND GENETIC-DISEASE
Authors: MOHRENWEISER H ZINGG B
Citation: H. Mohrenweiser et B. Zingg, MOSAICISM - THE EMBRYO AS A TARGET FOR INDUCTION OF MUTATIONS LEADINGTO CANCER AND GENETIC-DISEASE, Environmental and molecular mutagenesis, 25, 1995, pp. 21-29
PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP)
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP), American journal of human genetics, 57(4), 1995, pp. 241-241
INCORPORATION OF 150 GENETIC-MARKERS INTO THE METRIC PHYSICAL MAP OF HUMAN-CHROMOSOME-19
Authors: MOHRENWEISER H TSUJIMOTO S SWARTZ A OLSEN A BRANDRIFF B GORDON L
Citation: H. Mohrenweiser et al., INCORPORATION OF 150 GENETIC-MARKERS INTO THE METRIC PHYSICAL MAP OF HUMAN-CHROMOSOME-19, American journal of human genetics, 57(4), 1995, pp. 1138-1138
GENE FOR FAMILIAL HEMIPLEGIC MIGRAINE ON CHROMOSOME 19P13
Authors: OPHOFF RA TERWINDT GM VANEIJK R VERGOUWE M HOFKER MH HAAN J HOFFMAN S MOHRENWEISER H FERRARI MD FRANTS RR
Citation: Ra. Ophoff et al., GENE FOR FAMILIAL HEMIPLEGIC MIGRAINE ON CHROMOSOME 19P13, American journal of human genetics, 57(4), 1995, pp. 1284-1284
IDENTIFICATION OF EXPRESSED SEQUENCES FROM THE CADASIL REGION ON 19P
Authors: JOUTEL A DUCROS A ALAMOWITCH S VAHEDI K CHABRIAT H DOMENGA V RONI V MACIAZEK J PRIEUR M MOHRENWEISER H BOUSSER MG TOURNIERLASSERVE E
Citation: A. Joutel et al., IDENTIFICATION OF EXPRESSED SEQUENCES FROM THE CADASIL REGION ON 19P, American journal of human genetics, 57(4), 1995, pp. 1985-1985
A GENETIC-POLYMORPHISM IN COUMARIN 7-HYDROXYLATION - SEQUENCE OF THE HUMAN CYP2A GENES AND IDENTIFICATION OF VARIANT CYP2A6 ALLELES
Authors: FERNANDEZSALGUERO P HOFFMAN SMG CHOLERTON S MOHRENWEISER H RAUNIO H RAUTIO A PELKONEN O HUANG JD EVANS WE IDLE JR GONZALEZ FJ
Citation: P. Fernandezsalguero et al., A GENETIC-POLYMORPHISM IN COUMARIN 7-HYDROXYLATION - SEQUENCE OF THE HUMAN CYP2A GENES AND IDENTIFICATION OF VARIANT CYP2A6 ALLELES, American journal of human genetics, 57(3), 1995, pp. 651-660
THE MZF FAMILY - A CLUSTER OF MYELOID-SPECIFIC ZINC-FINGER GENES LOCATED AT THE TELOMERE OF CHROMOSOME 19Q
Authors: HROMAS R AMEMIYA C MOHRENWEISER H HOFFMAN S
Citation: R. Hromas et al., THE MZF FAMILY - A CLUSTER OF MYELOID-SPECIFIC ZINC-FINGER GENES LOCATED AT THE TELOMERE OF CHROMOSOME 19Q, Experimental hematology, 22(8), 1994, pp. 721-721
Risultati: 1-25 | 26-29