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Results: 1-11 |
Results: 11
HIGH-THROUGHPUT ISOLATION AND ANALYSIS OF FULL-LENGTH CDNA CLONES FROM DISEASED HUMAN BRAINS
Authors: BRADY KP MCCARRON S GRENIER J DENOME S RUBIN E VALENZUELA D
Citation: Kp. Brady et al., HIGH-THROUGHPUT ISOLATION AND ANALYSIS OF FULL-LENGTH CDNA CLONES FROM DISEASED HUMAN BRAINS, American journal of medical genetics, 74(6), 1997, pp. 602-602
SPLICE-SITE MUTATION CAUSING DELETION OF EXON-21 SEQUENCES FROM THE PRO-ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A PATIENT WITH SEVERE DENTINOGENESIS IMPERFECTA BUT VERY MILD OSTEOGENESIS IMPERFECTA
Authors: NICHOLLS AC OLIVER J MCCARRON S WINTER GB POPE FM
Citation: Ac. Nicholls et al., SPLICE-SITE MUTATION CAUSING DELETION OF EXON-21 SEQUENCES FROM THE PRO-ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN IN A PATIENT WITH SEVERE DENTINOGENESIS IMPERFECTA BUT VERY MILD OSTEOGENESIS IMPERFECTA, Human mutation, 7(3), 1996, pp. 219-227
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
AN EXON SKIPPING MUTATION OF A TYPE-V COLLAGEN GENE (COL5A1) IN EHLERS-DANLOS SYNDROME
Authors: NICHOLLS AC OLIVER JE MCCARRON S HARRISON JB GREENSPAN DS POPE FM
Citation: Ac. Nicholls et al., AN EXON SKIPPING MUTATION OF A TYPE-V COLLAGEN GENE (COL5A1) IN EHLERS-DANLOS SYNDROME, Journal of Medical Genetics, 33(11), 1996, pp. 940-946
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
THE COAGULOPATHY OF ACUTE PROMYELOCYTIC LEUKEMIA - UNIVERSAL THROMBINACTIVATION DETECTED BY SERIAL D-DIMER AND F1.2 DETERMINATIONS
Authors: SARRIS AH ESTEY E MCCARRON S FRITSCHE H LIU F GLASSMAN A ANDREEFF M
Citation: Ah. Sarris et al., THE COAGULOPATHY OF ACUTE PROMYELOCYTIC LEUKEMIA - UNIVERSAL THROMBINACTIVATION DETECTED BY SERIAL D-DIMER AND F1.2 DETERMINATIONS, Blood, 86(10), 1995, pp. 3098-3098
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
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
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
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