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Results: 1-13 |
Results: 13
EXON-INTRON STRUCTURE OF A 2.7-KB TRANSCRIPT OF THE STM7 GENE WITH PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE ACTIVITY
Authors: POOK MA CARVAJAL JJ DOUDNEY K HILLERMANN R CHAMBERLAIN S
Citation: Ma. Pook et al., EXON-INTRON STRUCTURE OF A 2.7-KB TRANSCRIPT OF THE STM7 GENE WITH PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE ACTIVITY, Genomics, 42(1), 1997, pp. 170-172
THE FRIEDREICH ATAXIA GENE ENCODES A NOVEL PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE
Authors: CARVAJAL JJ POOK MA DOSSANTOS M DOUDNEY K HILLERMANN R MINOGUE S WILLIAMSON R HSUAN JJ CHAMBERLAIN S
Citation: Jj. Carvajal et al., THE FRIEDREICH ATAXIA GENE ENCODES A NOVEL PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, Nature genetics, 14(2), 1996, pp. 157-162
GENETIC-MAPPING STUDIES OF 40 LOCI AND 23 COSMIDS IN CHROMOSOME-11P13-11Q13, AND EXCLUSION OF MU-CALPAIN AS THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 GENE
Authors: PANG JT LLOYD SE WOODING C FARREN B POTTINGER B HARDING B LEIGH SEA POOK MA BENHAM FJ GILLETT GT TAGGART RT THAKKER RV
Citation: Jt. Pang et al., GENETIC-MAPPING STUDIES OF 40 LOCI AND 23 COSMIDS IN CHROMOSOME-11P13-11Q13, AND EXCLUSION OF MU-CALPAIN AS THE MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 GENE, Human genetics, 97(6), 1996, pp. 732-741
EAGI AND NOTI LINKING CLONES FROM HUMAN-CHROMOSOME-11 AND HUMAN-CHROMOSOME-XP
Authors: POOK MA THAKRAR R POTTINGER B HARDING B PORTEOUS D VANHEYNINGEN V COWELL J JONES C POVEY S DAVIES KE THAKKER RV
Citation: Ma. Pook et al., EAGI AND NOTI LINKING CLONES FROM HUMAN-CHROMOSOME-11 AND HUMAN-CHROMOSOME-XP, Human genetics, 97(6), 1996, pp. 742-749
FRIEDREICHS ATAXIA - A DEFECT IN SIGNAL-TRANSDUCTION
Authors: CARVAJAL JJ POOK MA DOUDNEY K HILLERMANN R WILKES D ALMAHDAWI S WILLIAMSON R CHAMBERLAIN S
Citation: Jj. Carvajal et al., FRIEDREICHS ATAXIA - A DEFECT IN SIGNAL-TRANSDUCTION, Human molecular genetics, 4(8), 1995, pp. 1411-1419
IDENTIFICATION OF A CANDIDATE GENE FOR FRIEDREICHS ATAXIA BY EXON-TRAPPING AND REVERSE-TRANSCRIPTASE PCR
Authors: CARVAJAL JJ POOK MA DOUDNEY K HILLERMANN R WILKES D ALMAHDAWI S WILLIAMSON R CHAMBERLAIN S
Citation: Jj. Carvajal et al., IDENTIFICATION OF A CANDIDATE GENE FOR FRIEDREICHS ATAXIA BY EXON-TRAPPING AND REVERSE-TRANSCRIPTASE PCR, American journal of human genetics, 57(4), 1995, pp. 800-800
MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11
Authors: THAKKER RV PANG JT WOODING C SCHEINMAN SJ WRONG OM POOK MA
Citation: Rv. Thakker et al., MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11, Cytogenetics and cell genetics, 67(4), 1994, pp. 352-352
DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ASSOCIATED WITH A MICRODELETION INVOLVING DXS255 AND MAPS TO XP11.22
Authors: POOK MA WRONG O WOODING C NORDEN AGW FEEST TG THAKKER RV
Citation: Ma. Pook et al., DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ASSOCIATED WITH A MICRODELETION INVOLVING DXS255 AND MAPS TO XP11.22, Human molecular genetics, 2(12), 1993, pp. 2129-2134
THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
Authors: THAKKER RV POOK MA WOODING C NORDEN AGW FEEST TG WRONG OM
Citation: Rv. Thakker et al., THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22), Journal of bone and mineral research, 8, 1993, pp. 190000140-190000140
CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11
Authors: POOK MA THAKRAR R POTTINGER B HARDING B PORTEOUS D VANHEYNINGEN V COWELL J JONES C DAVIES KE THAKKER RV
Citation: Ma. Pook et al., CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 189-190
MAPPING THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO XP11.22 BY LINKAGE STUDIES
Authors: SCHEINMAN SJ POOK MA WOODING C PANG JT FRYMOYER PA THAKKER RV
Citation: Sj. Scheinman et al., MAPPING THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO XP11.22 BY LINKAGE STUDIES, The Journal of clinical investigation, 91(6), 1993, pp. 2351-2357
ASSOCIATION OF SOMATOTROPHINOMAS WITH LOSS OF ALLELES ON CHROMOSOME-11 AND WITH GSP MUTATIONS
Authors: THAKKER RV POOK MA WOODING C BOSCARO M SCANARINI M CLAYTON RN
Citation: Rv. Thakker et al., ASSOCIATION OF SOMATOTROPHINOMAS WITH LOSS OF ALLELES ON CHROMOSOME-11 AND WITH GSP MUTATIONS, The Journal of clinical investigation, 91(6), 1993, pp. 2815-2821
LOCALIZATION OF THE TAMM-HORSFALL GLYCOPROTEIN (UROMODULIN) GENE TO CHROMOSOME 16P12.3-16P13.11
Authors: POOK MA JEREMIAH S SCHEINMAN SJ POVEY S THAKKER RV
Citation: Ma. Pook et al., LOCALIZATION OF THE TAMM-HORSFALL GLYCOPROTEIN (UROMODULIN) GENE TO CHROMOSOME 16P12.3-16P13.11, Annals of Human Genetics, 57, 1993, pp. 285-290
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