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Results: 1-18 |
Results: 18
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Authors: DENDUNNEN JT KRAAYENBRINK T VANSCHOONEVELD M VANDEVOSSE E DEJONG PTVM TENBRINK JB SCHUURMAN E TIJMES N VANOMMEN GJB BERGEN AAB ANDOLFI G MONTINI E LI Y OUDET C BOLZ H KAPLAN J ORTH U GAL A HANAUER A BARDELLI AM AYUSO C DIAZ FJ BITOUN P VENTRUTO V BALLABIO A FRANCO B HIRIYANNA KT BINGHAM EL MCHENRY C PAWAR H COATS C DARGA T RICHARDS JE SIEVING PA HUOPANIEMI L RANTALA A ROSENBERG T DAHL N WRIGHT A DELACHAPELLE A ALITALO T LENZNER S BRUNNER B FEIL S NIESLER B SCHULZ U PINCKERS A BLANKENNAGEL A RUETHER K KELLNER U RAPPOLD G ROPERS HH KALSCHEUER V BERGER W TRUMP D WALPOLE SM NICOLAOU A GAYTHOR SA PIMENIDES D GEORGE NDL MOORE UT YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
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
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
A 2ND FAMILY WITH XLRH DISPLAYS THE MUTATION-S244L IN THE CLCN5 GENE
Authors: OUDET C MARTINCOIGNARD D PANNETIER S PRAUD E CHAMPION G HANAUER A
Citation: C. Oudet et al., A 2ND FAMILY WITH XLRH DISPLAYS THE MUTATION-S244L IN THE CLCN5 GENE, Human genetics, 99(6), 1997, pp. 781-784
MUTATIONS IN THE PEX GENE - EVIDENCE FOR ALTERATIONS IN GENE-FUNCTION, AND IMPLICATIONS FOR X-LINKED RICKETS (HYP)
Authors: ROWE PSM GOULDING JN FRANCIS F OUDET C STROM T ECONS M MOKRYCZKI A READ AP ORIORDAN JLH
Citation: Psm. Rowe et al., MUTATIONS IN THE PEX GENE - EVIDENCE FOR ALTERATIONS IN GENE-FUNCTION, AND IMPLICATIONS FOR X-LINKED RICKETS (HYP), Journal of bone and mineral research, 11(11), 1996, pp. 12-12
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
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
FRAXAC2 INSTABILITY
Authors: RICHARDS RI HOLMAN K FRIEND K STAPLES A SUTHERLAND GR OUDET C BIANCALANA V MANDEL JL
Citation: Ri. Richards et al., FRAXAC2 INSTABILITY, Nature genetics, 7(2), 1994, pp. 122-122
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
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
CONSTRUCTION OF A YAC CONTIG IN THE XP22 REGION CONTAINING THE COFFIN-LOWRY SYNDROME AND THE RETINOSCHISIS GENES
Authors: TRIVIER E BIANCALANA Y OUDET C DUMUR V HANAUER A
Citation: E. Trivier et al., CONSTRUCTION OF A YAC CONTIG IN THE XP22 REGION CONTAINING THE COFFIN-LOWRY SYNDROME AND THE RETINOSCHISIS GENES, Cytogenetics and cell genetics, 67(4), 1994, pp. 339-340
REFINED PHYSICAL LOCALIZATION OF 4 GENES AND 2 EXPRESSED SEQUENCED TAGS (EST) IN THE XP22.2-]XP22.1 REGION
Authors: OUDET C TRIVIER E BIANCALANA V HANAUER A
Citation: C. Oudet et al., REFINED PHYSICAL LOCALIZATION OF 4 GENES AND 2 EXPRESSED SEQUENCED TAGS (EST) IN THE XP22.2-]XP22.1 REGION, Cytogenetics and cell genetics, 67(4), 1994, pp. 357-358
DINUCLEOTIDE REPEAT POLYMORPHISM CLOSE TO IDS GENE IN XQ27.3-Q28 (DXS1113)
Authors: WEBER C OUDET C JOHNSON S PILIA G SCHLESSINGER D HANAUER A
Citation: C. Weber et al., DINUCLEOTIDE REPEAT POLYMORPHISM CLOSE TO IDS GENE IN XQ27.3-Q28 (DXS1113), Human molecular genetics, 2(5), 1993, pp. 612-612
DINUCLEOTIDE REPEAT POLYMORPHISM AT XQ26.1 (DXS1114)
Authors: WEBER C OUDET C JOHNSON S PILIA G SCHLESSINGER D HANAUER A
Citation: C. Weber et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT XQ26.1 (DXS1114), Human molecular genetics, 2(5), 1993, pp. 612-612
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
CONSTRUCTION OF A YAC CONTIG IN THE XP22 REGION CONTAINING THE COFFIN-LOWRY SYNDROME AND THE RETINOSCHISIS GENES
Authors: BIANCALANA V WEBER C TRIVIER E OUDET C WEISSENBACH J HANAUER A
Citation: V. Biancalana et al., CONSTRUCTION OF A YAC CONTIG IN THE XP22 REGION CONTAINING THE COFFIN-LOWRY SYNDROME AND THE RETINOSCHISIS GENES, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 179-179
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: 1-18 |