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Results: 1-23 |
Results: 23
THE ROLE OF THE PHEX GENE (PEX) IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: ROWE PSN
Citation: Psn. Rowe, THE ROLE OF THE PHEX GENE (PEX) IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Current opinion in nephrology and hypertension, 7(4), 1998, pp. 367-376
AN INTEGRATED GENETIC AND MAN-MOUSE COMPARATIVE MAP OF THE DXHXS674-PDHA1 REGION OF THE MOUSE X-CHROMOSOME
Authors: BLAIR HJ UWECHUE IC BARSH GS ROWE PSN BOYD Y
Citation: Hj. Blair et al., AN INTEGRATED GENETIC AND MAN-MOUSE COMPARATIVE MAP OF THE DXHXS674-PDHA1 REGION OF THE MOUSE X-CHROMOSOME, Genomics, 48(1), 1998, pp. 128-131
A PHEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT ADISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: ECONS MJ FRIEDMAN NE ROWE PSN SPEER MC FRANCIS F STROM TM OUDET C SMITH JA NINOMIYA JT LEE BE BERGEN H
Citation: Mj. Econs et al., A PHEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT ADISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS, The Journal of clinical endocrinology and metabolism, 83(10), 1998, pp. 3459-3462
GENOMIC ORGANIZATION OF THE HUMAN PEX GENE MUTATED IN X-LINKED DOMINANT HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F STROM TM HENNIG S BODDRICH A LORENZ B BRANDAU O MOHNIKE KL CAGNOLI M STEFFENS C KLAGES S BORZYM K POHL T OUDET C ECONS MJ ROWE PSN REINHARDT R MEITINGER T LEHRACH H
Citation: F. Francis et al., GENOMIC ORGANIZATION OF THE HUMAN PEX GENE MUTATED IN X-LINKED DOMINANT HYPOPHOSPHATEMIC RICKETS, PCR methods and applications, 7(6), 1997, pp. 573-585
THE PEXGENE - ITS ROLE IN X-LINKED RICKETS, OSTEOMALACIA, AND BONE-MINERAL METABOLISM
Authors: ROWE PSN
Citation: Psn. Rowe, THE PEXGENE - ITS ROLE IN X-LINKED RICKETS, OSTEOMALACIA, AND BONE-MINERAL METABOLISM, Experimental nephrology, 5(5), 1997, pp. 355-363
DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ROWE PSN OUDET CL FRANCIS F SINDING C PANNETIER S ECONS MJ STROM TM MEITINGER T GARABEDIAN M DAVID A MACHER MA QUESTIAUX E POPOWSKA E PRONICKA E READ AP MOKRZYCKI A GLORIEUX FH DREZNER MK HANAUER A LEHRACH H GOULDING JN ORIORDAN JLH
Citation: Psn. Rowe et al., DISTRIBUTION OF MUTATIONS IN THE PEX GENE IN FAMILIES WITH X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Human molecular genetics, 6(4), 1997, pp. 539-549
CANDIDATE GLYCOPROTEIN(S) FOR PHOSPHATURIA AND ALTERED VITAMIN-D METABOLISM IN TUMOR OSTEOMALACIA
Authors: ROWE PSN
Citation: Psn. Rowe, CANDIDATE GLYCOPROTEIN(S) FOR PHOSPHATURIA AND ALTERED VITAMIN-D METABOLISM IN TUMOR OSTEOMALACIA, Journal of bone and mineral research, 12, 1997, pp. 45-45
A PEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT A DISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP)
Authors: ECONS MJ FRIEDMAN NE ROWE PSN SPEER MC FRANCIS F STROM TM OUDET C LEE B BERGEN H
Citation: Mj. Econs et al., A PEX GENE MUTATION IS RESPONSIBLE FOR ADULT-ONSET VITAMIN-D-RESISTANT HYPOPHOSPHATEMIC OSTEOMALACIA - EVIDENCE THAT THE DISORDER IS NOT A DISTINCT ENTITY FROM X-LINKED HYPOPHOSPHATEMIC RICKETS (HYP), Journal of bone and mineral research, 12, 1997, pp. 316-316
CANDIDATE 56 AND 58 KDA PROTEIN(S) RESPONSIBLE FOR MEDIATING THE RENAL DEFECTS IN ONCOGENIC HYPOPHOSPHATEMIC OSTEOMALACIA
Authors: ROWE PSN ONG ACM COCKERILL FJ GOULDING JN HEWISON M
Citation: Psn. Rowe et al., CANDIDATE 56 AND 58 KDA PROTEIN(S) RESPONSIBLE FOR MEDIATING THE RENAL DEFECTS IN ONCOGENIC HYPOPHOSPHATEMIC OSTEOMALACIA, Bone, 18(2), 1996, pp. 159-169
THE GENE FOR X-LINKED HYPOPHOSPHATEMIC RICKETS MAPS TO A 200-300 KB REGION IN XP22.1, AND IS LOCATED ON A SINGLE YAC CONTAINING A PUTATIVE VITAMIN-D RESPONSE ELEMENT (VDRE)
Authors: ROWE PSN GOULDING JN FRANCIS F OUDET C ECONS MJ HANAUER A LEHRACH H READ AP MOUNTFORD RC SUMMERFIELD T WEISSENBACH J FRASER W DREZNER MK DAVIES KE ORIORDAN JLH
Citation: Psn. Rowe et al., THE GENE FOR X-LINKED HYPOPHOSPHATEMIC RICKETS MAPS TO A 200-300 KB REGION IN XP22.1, AND IS LOCATED ON A SINGLE YAC CONTAINING A PUTATIVE VITAMIN-D RESPONSE ELEMENT (VDRE), Human genetics, 97(3), 1996, pp. 345-352
MAPPING OF HUMAN NONMUSCLE TYPE COFILIN (CFL1) TO CHROMOSOME-11Q13 AND MUSCLE-TYPE COFILIN (CFL2) TO CHROMOSOME-14
Authors: GILLETT GT FOX MF ROWE PSN CASIMIR CM POVEY S
Citation: Gt. Gillett et al., MAPPING OF HUMAN NONMUSCLE TYPE COFILIN (CFL1) TO CHROMOSOME-11Q13 AND MUSCLE-TYPE COFILIN (CFL2) TO CHROMOSOME-14, Annals of Human Genetics, 60, 1996, pp. 201-211
A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: FRANCIS F HENNIG S KORN B REINHARDT R DEJONG P POUSTKA A LEHRACH H ROWE PSN GOULDING JN SUMMERFIELD T MOUNTFORD R READ AP POPOWSKA E PRONICKA E DAVIES KE ORIORDAN JLH ECONS MJ NESBITT T DREZNER MK OUDET C PANNETIER S HANAUER A STROM TM MEINDL A LORENZ B CAGNOLI M MOHNIKE KL MURKEN J MEITINGER T
Citation: F. Francis et al., A GENE (PEX) WITH HOMOLOGIES TO ENDOPEPTIDASES IS MUTATED IN PATIENTSWITH X-LINKED HYPOPHOSPHATEMIC RICKETS, Nature genetics, 11(2), 1995, pp. 130-136
DINUCLEOTIDE REPEAT POLYMORPHISM AT THE DXS1683 LOCUS
Authors: ECONS MJ FRANCIS F ROWE PSN SPEER MC ORIORDAN JLH LEHRACH H BECKER PA
Citation: Mj. Econs et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT THE DXS1683 LOCUS, Human molecular genetics, 3(4), 1994, pp. 680-680
CONSTRUCTION OF A HIGH-RESOLUTION LINKAGE MAP FOR XP22.1-P22.2 AND REFINEMENT OF THE GENETIC LOCALIZATION OF THE COFFIN-LOWRY SYNDROME GENE
Authors: BIANCALANA V TRIVIER E WEBER C WEISSENBACH J ROWE PSN ORIORDAN JLH PARTINGTON MW HEYBERGER S OUDET C HANAUER A
Citation: V. Biancalana et al., CONSTRUCTION OF A HIGH-RESOLUTION LINKAGE MAP FOR XP22.1-P22.2 AND REFINEMENT OF THE GENETIC LOCALIZATION OF THE COFFIN-LOWRY SYNDROME GENE, Genomics, 22(3), 1994, pp. 617-625
A YAC CONTIG SPANNING THE HYPOPHOSPHATEMIC RICKETS DISEASE GENE (HYP)CANDIDATE REGION
Authors: FRANCIS F ROWE PSN ECONS MJ SEE CG BENHAM F ORIORDAN JLH DREZNER MK HAMVAS RMJ LEHRACH H
Citation: F. Francis et al., A YAC CONTIG SPANNING THE HYPOPHOSPHATEMIC RICKETS DISEASE GENE (HYP)CANDIDATE REGION, Genomics, 21(1), 1994, pp. 229-237
MOLECULAR-BIOLOGY OF HYPOPHOSPHATEMIC RICKETS AND ONCOGENIC OSTEOMALACIA
Authors: ROWE PSN
Citation: Psn. Rowe, MOLECULAR-BIOLOGY OF HYPOPHOSPHATEMIC RICKETS AND ONCOGENIC OSTEOMALACIA, Human genetics, 94(5), 1994, pp. 457-467
REFINING THE GENETIC-MAP FOR THE REGION FLANKING THE X-LINKED HYPOPHOSPHATEMIC RICKETS LOCUS (XP22.1-22.2)
Authors: ROWE PSN GOULDING J READ A LEHRACH H FRANCIS F HANAUER A OUDET C BIANCALANA V KOOH SW DAVIES KE ORIORDAN JLH
Citation: Psn. Rowe et al., REFINING THE GENETIC-MAP FOR THE REGION FLANKING THE X-LINKED HYPOPHOSPHATEMIC RICKETS LOCUS (XP22.1-22.2), Human genetics, 93(3), 1994, pp. 291-294
RAPID ISOLATION OF DNA-SEQUENCES FLANKING MICROSATELLITE REPEATS
Authors: ROWE PSN FRANCIS F GOULDING J
Citation: Psn. Rowe et al., RAPID ISOLATION OF DNA-SEQUENCES FLANKING MICROSATELLITE REPEATS, Nucleic acids research, 22(23), 1994, pp. 5135-5136
FURTHER CHARACTERIZATION OF THE HYPOPHOSPHATEMIC RICKETS GENE CANDIDATE REGION
Authors: FRANCIS F ROWE PSN ECONS M TAIT E BROWN RM ORIORDAN JLH DREZNER M LEHRACH H
Citation: F. Francis et al., FURTHER CHARACTERIZATION OF THE HYPOPHOSPHATEMIC RICKETS GENE CANDIDATE REGION, Cytogenetics and cell genetics, 67(4), 1994, pp. 337-337
FINE-STRUCTURE MAPPING OF THE HUMAN X-LINKED HYPOPHOSPHATEMIC RICKETSGENE LOCUS
Authors: ECONS MJ ROWE PSN FRANCIS F BARKER DF SPEER MC NORMAN M PAIN PR WEISSENBACH J READ A DAVIS KE BECKER PA LEHRACH H ORIORDAN J DREZNER MK
Citation: Mj. Econs et al., FINE-STRUCTURE MAPPING OF THE HUMAN X-LINKED HYPOPHOSPHATEMIC RICKETSGENE LOCUS, The Journal of clinical endocrinology and metabolism, 79(5), 1994, pp. 1351-1354
FINE-STRUCTURE MAPPING OF THE HUMAN X-LINKED HYPOPHOSPHATEMIC RICKETSGENE
Authors: ECONS MJ ROWE PSN FRANCIS F BARKER DF SPEER MC NORMAN M PERICAKVANCE MA FAIN PR WEISSENBACH J READ A BECKER PA LEHRACH H ORIORDAN J DREZNER MK
Citation: Mj. Econs et al., FINE-STRUCTURE MAPPING OF THE HUMAN X-LINKED HYPOPHOSPHATEMIC RICKETSGENE, Journal of bone and mineral research, 8, 1993, pp. 190000137-190000137
NEW MARKERS FOR LINKAGE ANALYSIS OF X-LINKED HYPOPHOSPHATEMIC RICKETS
Authors: ROWE PSN GOULDING J READ A MOUNTFORD R HANAUER A OUDET C WHYTE MP MEIEREWERT S LEHRACH H DAVIES KE ORIORDAN JLH
Citation: Psn. Rowe et al., NEW MARKERS FOR LINKAGE ANALYSIS OF X-LINKED HYPOPHOSPHATEMIC RICKETS, Human genetics, 91(6), 1993, pp. 571-575
REFINING THE GENETIC-MAP FOR THE REGION FLANKING THE X-LINKED HYPOPHOSPHATEMIC RICKETS LOCUS (XP22.2-]P22.1)
Authors: ROWE PSN GOULDING J READ A FRANCIS F HANAUER A OUDET C BIANCALANA V MANDEL JL LEHRACH H WEISSENBACH J DAVIES KE ORIORDAN JLH
Citation: Psn. Rowe et al., REFINING THE GENETIC-MAP FOR THE REGION FLANKING THE X-LINKED HYPOPHOSPHATEMIC RICKETS LOCUS (XP22.2-]P22.1), Cytogenetics and cell genetics, 64(3-4), 1993, pp. 186-186
Risultati: 1-23 |