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Results: 1-25 | 26-33
Results: 1-25/33
SOLUTION STRUCTURE OF THE 4TH METAL-BINDING DOMAIN FROM THE MENKES COPPER-TRANSPORTING ATPASE
Authors: GITSCHIER J MOFFAT B REILLY D WOOD WI FAIRBROTHER WJ
Citation: J. Gitschier et al., SOLUTION STRUCTURE OF THE 4TH METAL-BINDING DOMAIN FROM THE MENKES COPPER-TRANSPORTING ATPASE, Nature structural biology, 5(1), 1998, pp. 47-54
ABSOLUTE PITCH - AN APPROACH FOR IDENTIFICATION OF GENETIC AND NONGENETIC COMPONENTS
Authors: BAHARLOO S JOHNSTON PA SERVICE SK GITSCHIER J FREIMER NB
Citation: S. Baharloo et al., ABSOLUTE PITCH - AN APPROACH FOR IDENTIFICATION OF GENETIC AND NONGENETIC COMPONENTS, American journal of human genetics, 62(2), 1998, pp. 224-231
A NOVEL GENE INVOLVED IN ZINC TRANSPORT IS DEFICIENT IN THE LETHAL MILK MOUSE
Authors: HUANG LP GITSCHIER J
Citation: Lp. Huang et J. Gitschier, A NOVEL GENE INVOLVED IN ZINC TRANSPORT IS DEFICIENT IN THE LETHAL MILK MOUSE, Nature genetics, 17(3), 1997, pp. 292-297
IRONING OUT ANEMIA
Authors: VULPE C GITSCHIER J
Citation: C. Vulpe et J. Gitschier, IRONING OUT ANEMIA, Nature genetics, 16(4), 1997, pp. 319-320
DELETION OF THE PROMOTER REGION IN THE ATP7A GENE OF THE MOTTLED DAPPLED MOUSE
Authors: LEVINSON B PACKMAN S GITSCHIER J
Citation: B. Levinson et al., DELETION OF THE PROMOTER REGION IN THE ATP7A GENE OF THE MOTTLED DAPPLED MOUSE, Nature genetics, 16(3), 1997, pp. 224-225
DEVELOPMENTAL EXPRESSION OF THE MOUSE MOTTLED AND TOXIC MILK GENES SUGGESTS DISTINCT FUNCTIONS FOR THE MENKES-AND-WILSON-DISEASE COPPER TRANSPORTERS
Authors: KUO YM GITSCHIER J PACKMAN S
Citation: Ym. Kuo et al., DEVELOPMENTAL EXPRESSION OF THE MOUSE MOTTLED AND TOXIC MILK GENES SUGGESTS DISTINCT FUNCTIONS FOR THE MENKES-AND-WILSON-DISEASE COPPER TRANSPORTERS, Human molecular genetics, 6(7), 1997, pp. 1043-1049
MUTATION ANALYSIS AND EXPRESSION OF THE MOTTLED GENE IN THE MACULAR MOUSE MODEL OF MENKES DISEASE
Authors: MURATA Y KODAMA H ABE T ISHIDA N NISHIMURA M LEVINSON B GITSCHIER J PACKMAN S
Citation: Y. Murata et al., MUTATION ANALYSIS AND EXPRESSION OF THE MOTTLED GENE IN THE MACULAR MOUSE MODEL OF MENKES DISEASE, Pediatric research, 42(4), 1997, pp. 436-442
HCTR1 - A HUMAN GENE FOR COPPER UPTAKE IDENTIFIED BY COMPLEMENTATION IN YEAST
Authors: ZHOU B GITSCHIER J
Citation: B. Zhou et J. Gitschier, HCTR1 - A HUMAN GENE FOR COPPER UPTAKE IDENTIFIED BY COMPLEMENTATION IN YEAST, Proceedings of the National Academy of Sciences of the United Statesof America, 94(14), 1997, pp. 7481-7486
A REPEATED ELEMENT IN THE REGULATORY REGION OF THE MNK GENE AND ITS DELETION IN A PATIENT WITH OCCIPITAL HORN SYNDROME
Authors: LEVINSON B CONANT R SCHNUR R DAS S PACKMAN S GITSCHIER J
Citation: B. Levinson et al., A REPEATED ELEMENT IN THE REGULATORY REGION OF THE MNK GENE AND ITS DELETION IN A PATIENT WITH OCCIPITAL HORN SYNDROME, Human molecular genetics, 5(11), 1996, pp. 1737-1742
CDNA SEQUENCE AND GENOMIC STRUCTURE OF THE MURINE P55 (MPP1) GENE
Authors: ELDER B KUO K GITSCHIER J KIM A CHISHTI A METZENBERG A
Citation: B. Elder et al., CDNA SEQUENCE AND GENOMIC STRUCTURE OF THE MURINE P55 (MPP1) GENE, Genomics, 38(2), 1996, pp. 231-234
PROPOSED STRUCTURE OF THE A-DOMAINS OF FACTOR-VIII BY HOMOLOGY MODELING
Authors: PAN Y DEFAY T GITSCHIER J COHEN FE
Citation: Y. Pan et al., PROPOSED STRUCTURE OF THE A-DOMAINS OF FACTOR-VIII BY HOMOLOGY MODELING, Nature structural biology, 2(9), 1995, pp. 740-744
PRENATAL-DIAGNOSIS OF MENKES DISEASE BY MUTATION ANALYSIS
Authors: DAS S WHITNEY S TAYLOR J CHEN E LEVINSON B VULPE C GITSCHIER J PACKMAN S
Citation: S. Das et al., PRENATAL-DIAGNOSIS OF MENKES DISEASE BY MUTATION ANALYSIS, Journal of inherited metabolic disease, 18(3), 1995, pp. 364-365
FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY
Authors: ANTONARAKIS SE ROSSITER JP YOUNG M HORST J DEMOERLOOSE P SOMMER SS KETTERLING RP KAZAZIAN HH NEGRIER C VINCIGUERRA C GITSCHIER J GOOSSENS M GIRODON E GHANEM N PLASSA F LAVERGNE JM VIDAUD M COSTA JM LAURIAN Y LIN SW LIN SR SHEN MC LILLICRAP D TAYLOR SAM WINDSOR S VALLEIX SV NAFA K SULTAN Y DELPECH M VNENCAKJONES CL PHILLIPS JA LJUNG RCR KOUMBARELIS E GIALERAKI A MANDALAKI T JENKINS PV COLLINS PW PASI KJ GOODEVE A PEAKE I PRESTON FE SCHWARTZ M SCHEIBEL E INGERSLEV J COOPER DN MILLAR DS KAKKAR VV GIANNELLI F NAYLOR JA TIZZANO EF BAIGET M DOMENECH M ALTISENT C TUSELL J BENEYTO M LORENZO JI GAUCHER C MAZURIER C PEERLINCK K MATTHIJS G CASSIMAN JJ VERMYLEN J MORI PG ACQUILA M CAPRINO D INABA H
Citation: Se. Antonarakis et al., FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY, Blood, 86(6), 1995, pp. 2206-2212
NEW MUTATIONS IN THE GENE ENCODING EMERIN THAT ARE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY
Authors: METZENBERG A GITSCHIER J
Citation: A. Metzenberg et J. Gitschier, NEW MUTATIONS IN THE GENE ENCODING EMERIN THAT ARE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1271-1271
DELETION OF ONE OF 3 TANDEM REPEATS IN THE 5' REGION OF THE MENKES GENE IN A PATIENT WITH OCCIPITAL HORN SYNDROME
Authors: LEVINSON B CONANT R SCHNUR R DAS S PACKMAN S GITSCHIER J
Citation: B. Levinson et al., DELETION OF ONE OF 3 TANDEM REPEATS IN THE 5' REGION OF THE MENKES GENE IN A PATIENT WITH OCCIPITAL HORN SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1418-1418
SIMILAR SPLICING MUTATIONS OF THE MENKES MOTTLED COPPER-TRANSPORTING ATPASE GENE IN OCCIPITAL HORN SYNDROME AND THE BLOTCHY MOUSE
Authors: DAS S LEVINSON B VULPE C WHITNEY S GITSCHIER J PACKMAN S
Citation: S. Das et al., SIMILAR SPLICING MUTATIONS OF THE MENKES MOTTLED COPPER-TRANSPORTING ATPASE GENE IN OCCIPITAL HORN SYNDROME AND THE BLOTCHY MOUSE, American journal of human genetics, 56(3), 1995, pp. 570-576
RFLVS IN MOTTLED DAPPLED ALLELES - REPLY
Authors: LEVINSON B VULPE C ELDER B MARTIN C PACKMAN S GITSCHIER J VERLY F
Citation: B. Levinson et al., RFLVS IN MOTTLED DAPPLED ALLELES - REPLY, Nature genetics, 8(1), 1994, pp. 12-12
THE MOTTLED GENE IS THE MOUSE HOMOLOG OF THE MENKES DISEASE GENE
Authors: LEVINSON B VULPE C ELDER B MARTIN C VERLEY F PACKMAN S GITSCHIER J
Citation: B. Levinson et al., THE MOTTLED GENE IS THE MOUSE HOMOLOG OF THE MENKES DISEASE GENE, Nature genetics, 6(4), 1994, pp. 369-373
FACTOR-VIII GENE INVERSIONS CAUSING SEVERE HEMOPHILIA-A ORIGINATE ALMOST EXCLUSIVELY IN MALE GERM-CELLS
Authors: ROSSITER JP YOUNG M KIMBERLAND ML HUTTER P KETTERLING RP GITSCHIER J HORST J MORRIS MA SCHAID DJ DEMOERLOOSE P SOMMER SS KAZAZIAN HH ANTONARAKIS SE
Citation: Jp. Rossiter et al., FACTOR-VIII GENE INVERSIONS CAUSING SEVERE HEMOPHILIA-A ORIGINATE ALMOST EXCLUSIVELY IN MALE GERM-CELLS, Human molecular genetics, 3(7), 1994, pp. 1035-1039
IDENTIFICATION OF A TXREB PSEUDOGENE (TXREBP) LOCATED BETWEEN THE GENES FOR P55 (MPP1) AND GBPD ON XQ28
Authors: DAS S GITSCHIER J
Citation: S. Das et J. Gitschier, IDENTIFICATION OF A TXREB PSEUDOGENE (TXREBP) LOCATED BETWEEN THE GENES FOR P55 (MPP1) AND GBPD ON XQ28, Genomics, 21(1), 1994, pp. 275-278
HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION (VOL 22,PG 3511, 1994)
Authors: TUDDENHAM EGD SCHWAAB R SEEHAFER J MILLAR DS GITSCHIER J HIGUCHI M BIDICHANDANI S CONNOR JM HOYER LW YOSHIOKA A PEAKE IR OLEK K KAZAZIAN HH LAVERGNE JM GIANNELLI F ANTONARAKIS SE COOPER DN
Citation: Egd. Tuddenham et al., HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION (VOL 22,PG 3511, 1994), Nucleic acids research, 22(22), 1994, pp. 4850-4868
HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION
Authors: TUDDENHAM EGD SCHWAAB R SEEHAFER J MILLAR DS GITSCHIER J HIGUCHI M BIDICHANDANI S CONNOR JM HOYER LW YOSHIOKA A PEAKE IR OLEK K KAZAZIAN HH LAVERGNE JM GIANNELLI F ANTONARAKIS SE COOPER DN
Citation: Egd. Tuddenham et al., HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION, Nucleic acids research, 22(17), 1994, pp. 3511-3533
THE EFFECT OF 8 V2 VASOPRESSIN RECEPTOR MUTATIONS ON STIMULATION OF ADENYLYL-CYCLASE AND BINDING TO VASOPRESSIN
Authors: PAN Y WILSON P GITSCHIER J
Citation: Y. Pan et al., THE EFFECT OF 8 V2 VASOPRESSIN RECEPTOR MUTATIONS ON STIMULATION OF ADENYLYL-CYCLASE AND BINDING TO VASOPRESSIN, The Journal of biological chemistry, 269(50), 1994, pp. 31933-31937
STRUCTURE OF THE A DOMAINS OF FACTOR-VIII BY HOMOLOGY MODELING
Authors: PAN Y DEFAY T COHEN F GITSCHIER J
Citation: Y. Pan et al., STRUCTURE OF THE A DOMAINS OF FACTOR-VIII BY HOMOLOGY MODELING, Blood, 84(10), 1994, pp. 10000062-10000062
DIVERSE MUTATIONS IN PATIENTS WITH MENKES DISEASE OFTEN LEAD TO EXON SKIPPING
Authors: DAS S LEVINSON B WHITNEY S VULPE C PACKMAN S GITSCHIER J
Citation: S. Das et al., DIVERSE MUTATIONS IN PATIENTS WITH MENKES DISEASE OFTEN LEAD TO EXON SKIPPING, American journal of human genetics, 55(5), 1994, pp. 883-889
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