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Results: 1-25 | 26-37
Results: 1-25/37
XL-ALPHA-S IS A PATERNALLY DERIVED PROTEIN PRODUCT OF THE HUMAN GNAS1GENE
Authors: HAYWARD B KAMIYA M TAKADA S MORAN V STRAIN L HAYASHIZAKI Y BONTHRON DT
Citation: B. Hayward et al., XL-ALPHA-S IS A PATERNALLY DERIVED PROTEIN PRODUCT OF THE HUMAN GNAS1GENE, European journal of human genetics, 6, 1998, pp. 305-305
ORGANIZATION OF THE HUMAN GLUCOKINASE REGULATOR GENE GCKR
Authors: HAYWARD BE DUNLOP N INTODY S LEEK JP MARKHAM AF WARNER JP BONTHRON DT
Citation: Be. Hayward et al., ORGANIZATION OF THE HUMAN GLUCOKINASE REGULATOR GENE GCKR, Genomics, 49(1), 1998, pp. 137-142
GNAS1 MUTATIONAL ANALYSIS IN PSEUDOHYPOPARATHYROIDISM
Authors: AHMED SF DIXON PH BONTHRON DT STIRLING HF BARR DGD KELNAR CJH THAKKER RV
Citation: Sf. Ahmed et al., GNAS1 MUTATIONAL ANALYSIS IN PSEUDOHYPOPARATHYROIDISM, Clinical endocrinology, 49(4), 1998, pp. 525-531
A TRUE HERMAPHRODITE CHIMERA RESULTING FROM EMBRYO AMALGAMATION AFTERIN-VITRO FERTILIZATION
Authors: STRAIN L DEAN JCS HAMILTON MPR BONTHRON DT
Citation: L. Strain et al., A TRUE HERMAPHRODITE CHIMERA RESULTING FROM EMBRYO AMALGAMATION AFTERIN-VITRO FERTILIZATION, The New England journal of medicine, 338(3), 1998, pp. 166-169
THE HUMAN GNAS1 GENE IS IMPRINTED AND ENCODES DISTINCT PATERNALLY ANDBIALLELICALLY EXPRESSED G-PROTEINS
Authors: HAYWARD BE KAMIYA M STRAIN L MORAN V CAMPBELL R HAYASHIZAKI Y BONTHRON DT
Citation: Be. Hayward et al., THE HUMAN GNAS1 GENE IS IMPRINTED AND ENCODES DISTINCT PATERNALLY ANDBIALLELICALLY EXPRESSED G-PROTEINS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(17), 1998, pp. 10038-10043
ORGANIZATION OF THE HUMAN PAX4 GENE AND ITS EXCLUSION AS A CANDIDATE FOR THE WOLCOTT-RALLISON-SYNDROME
Authors: BONTHRON DT DUNLOP N BARR DGD ELSANOUSI AA ALGAZALI LI
Citation: Dt. Bonthron et al., ORGANIZATION OF THE HUMAN PAX4 GENE AND ITS EXCLUSION AS A CANDIDATE FOR THE WOLCOTT-RALLISON-SYNDROME, Journal of Medical Genetics, 35(4), 1998, pp. 288-292
STRUCTURE AND ALTERNATIVE SPLICING OF THE KETOHEXOKINASE GENE
Authors: HAYWARD BE BONTHRON DT
Citation: Be. Hayward et Dt. Bonthron, STRUCTURE AND ALTERNATIVE SPLICING OF THE KETOHEXOKINASE GENE, European journal of biochemistry, 257(1), 1998, pp. 85-91
GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/
Authors: HUIE ML TSUJINO S BROOKS SS ENGEL A ELIAS E BONTHRON DT BESSLEY C SHANSKE S DIMAURO S GOTO YI HIRSCHHORN R
Citation: Ml. Huie et al., GLYCOGEN-STORAGE-DISEASE TYPE-II - IDENTIFICATION OF 4 NOVEL MISSENSEMUTATIONS (D645N, G648S, R672W, R672Q) AND 2 INSERTIONS DELETIONS IN THE ACID ALPHA-GLUCOSIDASE LOCUS OF PATIENTS OF DIFFERING PHENOTYPE/, Biochemical and biophysical research communications, 244(3), 1998, pp. 921-927
CDNA CLONING, GENOMIC ORGANIZATION, AND CHROMOSOMAL LOCALIZATION OF ANOVEL HUMAN GENE THAT ENCODES A KINESIN-RELATED PROTEIN HIGHLY SIMILAR TO MOUSE KIF3C
Authors: TELFORD EAR WIGHTMAN P LEEK J MARKHAM AF LENCH NJ BONTHRON DT
Citation: Ear. Telford et al., CDNA CLONING, GENOMIC ORGANIZATION, AND CHROMOSOMAL LOCALIZATION OF ANOVEL HUMAN GENE THAT ENCODES A KINESIN-RELATED PROTEIN HIGHLY SIMILAR TO MOUSE KIF3C, Biochemical and biophysical research communications, 242(2), 1998, pp. 407-412
THE GENES ENCODING GLUCOKINASE REGULATORY PROTEIN AND KETOHEXOKINASE CO-LOCALIZE TO MOUSE-CHROMOSOME-5
Authors: WIGHTMAN PJ HAYWARD BE BONTHRON DT
Citation: Pj. Wightman et al., THE GENES ENCODING GLUCOKINASE REGULATORY PROTEIN AND KETOHEXOKINASE CO-LOCALIZE TO MOUSE-CHROMOSOME-5, Mammalian genome, 8(9), 1997, pp. 700-701
ASSIGNMENT OF INDIAN HEDGEHOG (IHH) TO HUMAN-CHROMOSOME BANDS 2Q33-]Q35 BY IN-SITU HYBRIDIZATION
Authors: LEEK JP MOYNIHAN TP ANWAR R BONTHRON DT MARKHAM AF LENCH NJ
Citation: Jp. Leek et al., ASSIGNMENT OF INDIAN HEDGEHOG (IHH) TO HUMAN-CHROMOSOME BANDS 2Q33-]Q35 BY IN-SITU HYBRIDIZATION, Cytogenetics and cell genetics, 76(3-4), 1997, pp. 187-188
MOLECULAR-GENETICS OF THE HUMAN GLUCOKINASE REGULATOR-FRUCTOKINASE (GCKR-KHK) REGION OF CHROMOSOME 2P23
Authors: HAYWARD BE WARNER JP DUNLOP N FANTES J INTODY S LEEK J MARKHAM AF BONTHRON DT
Citation: Be. Hayward et al., MOLECULAR-GENETICS OF THE HUMAN GLUCOKINASE REGULATOR-FRUCTOKINASE (GCKR-KHK) REGION OF CHROMOSOME 2P23, Biochemical Society transactions, 25(1), 1997, pp. 140-145
FRIED-SYNDROME IS A DISTINCT X-LINKED MENTAL-RETARDATION SYNDROME MAPPING TO XP22
Authors: STRAIN L WRIGHT AF BONTHRON DT
Citation: L. Strain et al., FRIED-SYNDROME IS A DISTINCT X-LINKED MENTAL-RETARDATION SYNDROME MAPPING TO XP22, Journal of Medical Genetics, 34(7), 1997, pp. 535-540
AMALGAMATION OF IN-VITRO FERTILIZED EMBRYOS, RESULTING IN BIRTH OF A TRUE HERMAPHRODITE CHIMERA
Authors: BONTHRON DT STRAIN L DEAN JCS
Citation: Dt. Bonthron et al., AMALGAMATION OF IN-VITRO FERTILIZED EMBRYOS, RESULTING IN BIRTH OF A TRUE HERMAPHRODITE CHIMERA, American journal of human genetics, 61(4), 1997, pp. 841-841
WHY A BENIGN MUTATION KILLS ENZYME-ACTIVITY - STRUCTURE-BASED ANALYSIS OF THE A176V MUTANT OF SACCHAROMYCES-CEREVISIAE L-ASPARAGINASE-I
Authors: BONTHRON DT JASKOLSKI M
Citation: Dt. Bonthron et M. Jaskolski, WHY A BENIGN MUTATION KILLS ENZYME-ACTIVITY - STRUCTURE-BASED ANALYSIS OF THE A176V MUTANT OF SACCHAROMYCES-CEREVISIAE L-ASPARAGINASE-I, Acta Biochimica Polonica, 44(3), 1997, pp. 491-504
COLOCALIZATION OF THE KETOHEXOKINASE AND GLUCOKINASE REGULATOR GENES TO A 500-KB REGION OF CHROMOSOME 2P23
Authors: HAYWARD BE FANTES JA WARNER JP INTODY S LEEK JP MARKHAM AF BONTHRON DT
Citation: Be. Hayward et al., COLOCALIZATION OF THE KETOHEXOKINASE AND GLUCOKINASE REGULATOR GENES TO A 500-KB REGION OF CHROMOSOME 2P23, Mammalian genome, 7(6), 1996, pp. 454-458
MUTATIONAL ANALYSIS OF THE GNAS1 GENE IN PSEUDOHYPOPARATHYROIDISM
Authors: DIXON PH AHMED SF BONTHRON DT BARR DGD KELNAR CJH THAKKER RV
Citation: Ph. Dixon et al., MUTATIONAL ANALYSIS OF THE GNAS1 GENE IN PSEUDOHYPOPARATHYROIDISM, Journal of bone and mineral research, 11, 1996, pp. 494-494
A HUMAN PARTHENOGENETIC CHIMERA
Authors: STRAIN L WARNER JP JOHNSTON T BONTHRON DT
Citation: L. Strain et al., A HUMAN PARTHENOGENETIC CHIMERA, Nature genetics, 11(2), 1995, pp. 164-169
HUMAN GLUCOKINASE REGULATORY PROTEIN (GCKR) - CDNA AND GENOMIC CLONING, COMPLETE PRIMARY STRUCTURE, AND CHROMOSOMAL LOCALIZATION
Authors: WARNER JP LEEK JP INTODY S MARKHAM AF BONTHRON DT
Citation: Jp. Warner et al., HUMAN GLUCOKINASE REGULATORY PROTEIN (GCKR) - CDNA AND GENOMIC CLONING, COMPLETE PRIMARY STRUCTURE, AND CHROMOSOMAL LOCALIZATION, Mammalian genome, 6(8), 1995, pp. 532-536
A HUMAN PARTHENOGENETIC CHIMERA
Authors: STRAIN L WARNER JP JOHNSTON T BONTHRON DT
Citation: L. Strain et al., A HUMAN PARTHENOGENETIC CHIMERA, American journal of human genetics, 57(4), 1995, pp. 780-780
THE GENES ENCODING GLUCOKINASE REGULATORY PROTEIN (GCKR) AND KETO-HEXOKINASE (KHK) COLOCALIZE WITHIN 2P23.3
Authors: WARNER JP FANTES JA INTODY S JOHNSTON T LEEK JP MARKHAM AF HAYWARD BE BONTHRON DT
Citation: Jp. Warner et al., THE GENES ENCODING GLUCOKINASE REGULATORY PROTEIN (GCKR) AND KETO-HEXOKINASE (KHK) COLOCALIZE WITHIN 2P23.3, American journal of human genetics, 57(4), 1995, pp. 867-867
MOLECULAR-BASIS OF ESSENTIAL FRUCTOSURIA - MOLECULAR-CLONING AND MUTATIONAL ANALYSIS OF HUMAN KETOHEXOKINASE (FRUCTOKINASE)
Authors: BONTHRON DT BRADY N DONALDSON IA STEINMANN B
Citation: Dt. Bonthron et al., MOLECULAR-BASIS OF ESSENTIAL FRUCTOSURIA - MOLECULAR-CLONING AND MUTATIONAL ANALYSIS OF HUMAN KETOHEXOKINASE (FRUCTOKINASE), Human molecular genetics, 3(9), 1994, pp. 1627-1631
NOVEL DNA-BINDING ELEMENTS IN THE PROMOTER OF HUMAN PLATELET-DERIVED GROWTH-FACTOR B-CHAIN GENE
Authors: KHACHIGIAN LM BENZ MW NEISH AS BONTHRON DT COLLINS T
Citation: Lm. Khachigian et al., NOVEL DNA-BINDING ELEMENTS IN THE PROMOTER OF HUMAN PLATELET-DERIVED GROWTH-FACTOR B-CHAIN GENE, The FASEB journal, 8(4), 1994, pp. 10000392-10000392
THE ASP1 GENE OF SACCHAROMYCES-CEREVISIAE, ENCODING THE INTRACELLULARISOZYME OF L-ASPARAGINASE
Authors: SINCLAIR K WARNER JP BONTHRON DT
Citation: K. Sinclair et al., THE ASP1 GENE OF SACCHAROMYCES-CEREVISIAE, ENCODING THE INTRACELLULARISOZYME OF L-ASPARAGINASE, Gene, 144(1), 1994, pp. 37-43
PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION
Authors: STRAIN L PORTEOUS MEM GOSDEN CM ELLIS PM NEILSON JP BONTHRON DT
Citation: L. Strain et al., PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION, Prenatal diagnosis, 14(6), 1994, pp. 469-474
Risultati: 1-25 | 26-37