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Results: 1-11 |
Results: 11
FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q
Authors: DEVOTO M SHIMOYA K CAMINIS J OTT J TENENHOUSE A WHYTE MP SEREDA L HALL S CONSIDINE E WILLIAMS CJ TROMP G KUIVANIEMI H ALAKOKKO L PROCKOP DJ SPOTILA LD
Citation: M. Devoto et al., FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q, European journal of human genetics, 6(2), 1998, pp. 151-157
LINKAGE OF CHONDROCALCINOSIS TO CHROMOSOME 5P15.1-.2 IN A LARGE ARGENTINEAN PEDIGREE
Authors: WILLIAMS CJ HARDWICK LJ BUTCHER S CONSIDINE E NICOD A WALSH S PROCKOP DJ CAIERO F REGINATO AJ BRANCOLINI V DEVOTO M CARR A LATHROP M WORDSWORTH BF
Citation: Cj. Williams et al., LINKAGE OF CHONDROCALCINOSIS TO CHROMOSOME 5P15.1-.2 IN A LARGE ARGENTINEAN PEDIGREE, Arthritis and rheumatism, 40(9), 1997, pp. 1736-1736
A(-2)-]G TRANSITION AT THE 3'-ACCEPTOR SPLICE-SITE OF IVS17 CHARACTERIZES THE COL2A1 GENE MUTATION IN THE ORIGINAL STICKLER SYNDROME KINDRED
Authors: WILLIAMS CJ GANGULY A CONSIDINE E MCCARRON S PROCKOP DJ WALSHVOCKLEY C MICHELS VV
Citation: Cj. Williams et al., A(-2)-]G TRANSITION AT THE 3'-ACCEPTOR SPLICE-SITE OF IVS17 CHARACTERIZES THE COL2A1 GENE MUTATION IN THE ORIGINAL STICKLER SYNDROME KINDRED, American journal of medical genetics, 63(3), 1996, pp. 461-467
GENETIC-LINKAGE OF FAMILIAL GRANULOMATOUS INFLAMMATORY ARTHRITIS, SKIN RASH, AND UVEITIS TO CHROMOSOME-16
Authors: TROMP G KUIVANIEMI H RAPHAEL S ALAKOKKO L CHRISTIANO A CONSIDINE E DHULIPALA R HYLAND J JOKINEN A KIVIRIKKO S KORN R MADHATHERI S MCCARRON S PULKKINEN L PUNNETT H SHIMOYA K SPOTILA L TATE A WILLIAMS CJ
Citation: G. Tromp et al., GENETIC-LINKAGE OF FAMILIAL GRANULOMATOUS INFLAMMATORY ARTHRITIS, SKIN RASH, AND UVEITIS TO CHROMOSOME-16, American journal of human genetics, 59(5), 1996, pp. 1097-1107
3 NEW POINT MUTATIONS IN TYPE-II PROCOLLAGEN (COL2A1) AND IDENTIFICATION OF A 4TH FAMILY WITH THE COL2A1 ARG519-]CYS BASE SUBSTITUTION USING CONFORMATION SENSITIVE GEL-ELECTROPHORESIS
Authors: WILLIAMS CJ ROCK M CONSIDINE E MCCARRON S GOW P LADDA R MCLAIN D MICHELS VM MURPHY W PROCKOP DJ GANGULY A
Citation: Cj. Williams et al., 3 NEW POINT MUTATIONS IN TYPE-II PROCOLLAGEN (COL2A1) AND IDENTIFICATION OF A 4TH FAMILY WITH THE COL2A1 ARG519-]CYS BASE SUBSTITUTION USING CONFORMATION SENSITIVE GEL-ELECTROPHORESIS, Human molecular genetics, 4(2), 1995, pp. 309-312
LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY
Authors: SPOTILA LD DEVOTO M SHIMOVA K KUIVANIEMI H TROMP G WILLIAMS C ALAKOKKO L SEREDA L HALL S JOKINEN A DHULIPALA R CONSIDINE E MCCARRON S OTT J WHYTE M CAMINIS J TENENHOUSE A PROCKOP DJ
Citation: Ld. Spotila et al., LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY, Journal of bone and mineral research, 10, 1995, pp. 184-184
A NOVEL INTRON DELETION IN THE COL2A1 GENE GIVER RISE TO ABERRANT SPLICING PRODUCTS IN 2 UNRELATED FAMILIES WITH MILD OSTEOCHONDRODYSPLASIAS
Authors: WILLIAMS CJ ISLEY J HARLAND L MCCARRON S CONSIDINE E VOCKLEY G ODRISCOLL S REGINATO A PROCKOP DJ GANGULY A
Citation: Cj. Williams et al., A NOVEL INTRON DELETION IN THE COL2A1 GENE GIVER RISE TO ABERRANT SPLICING PRODUCTS IN 2 UNRELATED FAMILIES WITH MILD OSTEOCHONDRODYSPLASIAS, American journal of human genetics, 57(4), 1995, pp. 107-107
A SINGLE-BASE MUTATION IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) THAT CONVERTS GLYCINE ALPHA-1-247 TO SERINE IN A FAMILY WITH LATE-ONSET SPONDYLOEPIPHYSEAL DYSPLASIA
Authors: RITVANIEMI P SOKOLOV BP WILLIAMS CJ CONSIDINE E YURGENEV L MEERSON EM ALAKOKKO L PROCKOP DJ
Citation: P. Ritvaniemi et al., A SINGLE-BASE MUTATION IN THE TYPE-II PROCOLLAGEN GENE (COL2A1) THAT CONVERTS GLYCINE ALPHA-1-247 TO SERINE IN A FAMILY WITH LATE-ONSET SPONDYLOEPIPHYSEAL DYSPLASIA, Human mutation, 3(3), 1994, pp. 261-267
CONFORMATION SENSITIVE GEL-ELECTROPHORESIS OF POLYMERASE CHAIN-REACTION PRODUCTS OF THE TYPE-II PROCOLLAGEN GENE REVEALS A HETEROZYGOUS GLY988 -] VAL MUTATION IN A BABY WITH HYPOCHONDROGENESIS
Authors: GANGULY A ROCK M CONSIDINE E MCCARRON S MICHELS VV PROCKOP DJ WILLIAMS CJ
Citation: A. Ganguly et al., CONFORMATION SENSITIVE GEL-ELECTROPHORESIS OF POLYMERASE CHAIN-REACTION PRODUCTS OF THE TYPE-II PROCOLLAGEN GENE REVEALS A HETEROZYGOUS GLY988 -] VAL MUTATION IN A BABY WITH HYPOCHONDROGENESIS, American journal of human genetics, 53(3), 1993, pp. 1159-1159
G-MUTATION TO A-MUTATION IN THE TYPE-II PROCOLLAGEN GENE THAT CONVERTS GLYCINE-247 TO SERINE IN A FAMILY WITH SPONDYLOEPIPHYSEAL DYSPLASIA
Authors: SOKOLOV BP RITVANIEMI P WILLIAMS CJ CONSIDINE E YURGENEV L MEERSON EM ALAKOKKO L PROCKOP DJ
Citation: Bp. Sokolov et al., G-MUTATION TO A-MUTATION IN THE TYPE-II PROCOLLAGEN GENE THAT CONVERTS GLYCINE-247 TO SERINE IN A FAMILY WITH SPONDYLOEPIPHYSEAL DYSPLASIA, American journal of human genetics, 53(3), 1993, pp. 1232-1232
A POINT MUTATION IN ONE ALLELE OF THE TYPE-II PROCOLLAGEN GENE PRODUCES A GLY(976) -] SER SUBSTITUTION OF THE GENE IN A FAMILY WITH SEVERE DEGENERATIVE ARTHROPATHY OF THE HIPS ASSOCIATED WITH PROBABLE EPIPHYSEAL DYSPLASIA
Authors: WILLIAMS CJ MCCARRON S CONSIDINE E MCLAIN D MURPHY W GANGULY A ROCK M PROCKOP DJ
Citation: Cj. Williams et al., A POINT MUTATION IN ONE ALLELE OF THE TYPE-II PROCOLLAGEN GENE PRODUCES A GLY(976) -] SER SUBSTITUTION OF THE GENE IN A FAMILY WITH SEVERE DEGENERATIVE ARTHROPATHY OF THE HIPS ASSOCIATED WITH PROBABLE EPIPHYSEAL DYSPLASIA, American journal of human genetics, 53(3), 1993, pp. 1252-1252
Risultati: 1-11 |