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Results: 1-25 | 26-30
Results: 1-25/30
IDENTIFICATION OF 5 NOVEL MUTATIONS IN CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE IN PSEUDOACHRONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA
Authors: LOUGHLIN J IRVEN C MUSTAFA Z BRIGGS MD CARR A LYNCH SA KNOWLTON RG COHN DH SYKES B
Citation: J. Loughlin et al., IDENTIFICATION OF 5 NOVEL MUTATIONS IN CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE IN PSEUDOACHRONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA, Human mutation, 1998, pp. 10-17
EFFECTS OF DEHYDRATION ON ISOMETRIC MUSCULAR STRENGTH AND ENDURANCE
Authors: GREIWE JS STAFFEY KS MELROSE DR NARVE MD KNOWLTON RG
Citation: Js. Greiwe et al., EFFECTS OF DEHYDRATION ON ISOMETRIC MUSCULAR STRENGTH AND ENDURANCE, Medicine and science in sports and exercise, 30(2), 1998, pp. 284-288
IDENTIFYING THE INTEGRATED ELECTROMYOGRAPHIC THRESHOLD USING DIFFERENT MUSCLES DURING INCREMENTAL CYCLING EXERCISE
Authors: GLASS SC KNOWLTON RG SANJABI PB SULLIVAN JJ
Citation: Sc. Glass et al., IDENTIFYING THE INTEGRATED ELECTROMYOGRAPHIC THRESHOLD USING DIFFERENT MUSCLES DURING INCREMENTAL CYCLING EXERCISE, Journal of Sports Medicine and Physical Fitness, 38(1), 1998, pp. 47-52
DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: BRIGGS MD MORTIER GR COLE WG KING LM GOLIK SS BONAVENTURE J NUYTINCK L DEPAEPE A LEROY JG BIESECKER L LIPSON M WILCOX WR LACHMAN RS RIMOIN DL KNOWLTON RG COHN DH
Citation: Md. Briggs et al., DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, American journal of human genetics, 62(2), 1998, pp. 311-319
MUTATIONS IN CORNEA-SPECIFIC KERATIN K3 OR K12 GENES CAUSE MEESMANNS CORNEAL-DYSTROPHY
Authors: IRVINE AD CORDEN LD SWENSSON O SWENSSON B MOORE JE FRAZER DG SMITH FJD KNOWLTON RG CHRISTOPHERS E ROCHELS R UITTO J MCLEAN WHI
Citation: Ad. Irvine et al., MUTATIONS IN CORNEA-SPECIFIC KERATIN K3 OR K12 GENES CAUSE MEESMANNS CORNEAL-DYSTROPHY, Nature genetics, 16(2), 1997, pp. 184-187
HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME-2 USING DNA POOLING
Authors: ARBOUR NC ZLOTOGORA J KNOWLTON RG MERIN S ROSENMANN A KANIS AB ROKHLINA T STONE EM SHEFFIELD VC
Citation: Nc. Arbour et al., HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME-2 USING DNA POOLING, Human molecular genetics, 6(5), 1997, pp. 689-694
MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY (VOL 68, PG 396, 1997)
Authors: BALLO R BRIGGS MD COHN DH KNOWLTON RG BEIGHTON PH RAMESAR RS
Citation: R. Ballo et al., MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY (VOL 68, PG 396, 1997), American journal of medical genetics, 71(4), 1997, pp. 494-494
MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY
Authors: BALLO R BRIGGS MD COHN DH KNOWLTON RG BEIGHTON PH RAMESAR RS
Citation: R. Ballo et al., MULTIPLE EPIPHYSEAL DYSPLASIA, RIBBING TYPE - A NOVEL POINT MUTATION IN THE COMP GENE IN A SOUTH-AFRICAN FAMILY, American journal of medical genetics, 68(4), 1997, pp. 396-400
HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME 2P11 USING DNA POOLING
Authors: ARBOUR NC ZLOTOGORA J KNOWLTON RG MERIN S ROKHLINA T STONE EM SHEFFIELD VC
Citation: Nc. Arbour et al., HOMOZYGOSITY MAPPING OF ACHROMATOPSIA TO CHROMOSOME 2P11 USING DNA POOLING, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3295-3295
THE EFFECT OF EXERCISE-INDUCED GLYCOGEN DEPLETION ON THE LACTATE, VENTILATORY AND ELECTROMYOGRAPHIC THRESHOLDS
Authors: GLASS C KNOWLTON RG SANJABI PB SULLIVAN JJ
Citation: C. Glass et al., THE EFFECT OF EXERCISE-INDUCED GLYCOGEN DEPLETION ON THE LACTATE, VENTILATORY AND ELECTROMYOGRAPHIC THRESHOLDS, Journal of Sports Medicine and Physical Fitness, 37(1), 1997, pp. 32-40
MEESMANNS-CORNEAL-DYSTROPHY IS CAUSED BY MUTATIONS IN CORNEA-SPECIFICKERATINS
Authors: MCLEAN WHI CORDEN LD IRVINE AD MOORE JE FRAZER DG SWENSSON O SWENSSON B SMITH FJD KNOWLTON RG CHRISTOPHERS E ROCHELS R UITTO J
Citation: Whi. Mclean et al., MEESMANNS-CORNEAL-DYSTROPHY IS CAUSED BY MUTATIONS IN CORNEA-SPECIFICKERATINS, American journal of human genetics, 61(4), 1997, pp. 99-99
DIVERSE MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) GENE IN THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: COHN DH BRIGGS MD GOODART S KING LM GOLIK SS RIMOIN DL KNOWLTON RG
Citation: Dh. Cohn et al., DIVERSE MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP) GENE IN THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, Journal of investigative medicine, 44(1), 1996, pp. 95-95
PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL LACHMAN RS GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO MUTATIONS IN THE CARTILAGE OLIGOMERIC MATRIX PROTEIN GENE, Nature genetics, 10(3), 1995, pp. 330-336
HIGH-RESOLUTION GENETIC AND PHYSICAL MAPPING OF MULTIPLE EPIPHYSEAL DYSPLASIA AND PSEUDOACHONDROPLASIA MUTATIONS AT CHROMOSOME 19P13.1-P12
Authors: KNOWLTON RG CEKLENIAK JA COHN DH BRIGGS MD HOFFMAN SMG BRANDRIFF BF OLSEN AS
Citation: Rg. Knowlton et al., HIGH-RESOLUTION GENETIC AND PHYSICAL MAPPING OF MULTIPLE EPIPHYSEAL DYSPLASIA AND PSEUDOACHONDROPLASIA MUTATIONS AT CHROMOSOME 19P13.1-P12, Genomics, 28(3), 1995, pp. 513-519
D20S16 IS A COMPLEX INTERSPERSED REPEATED SEQUENCE - GENETIC AND PHYSICAL ANALYSIS OF THE LOCUS
Authors: BOWDEN DW KRAWCHUK MD WEAVER EJ HOWARD TD KNOWLTON RG RAO PN PETTENATI MJ HAYWORTH R WAGNER BJ ROTHSCHILD CB
Citation: Dw. Bowden et al., D20S16 IS A COMPLEX INTERSPERSED REPEATED SEQUENCE - GENETIC AND PHYSICAL ANALYSIS OF THE LOCUS, Genomics, 25(2), 1995, pp. 394-403
APPLICATION OF A NUMERICAL-MODEL FOR SIMULATING WATER-FLOW, ISOTOPE TRANSPORT, AND HEAT-TRANSFER IN THE UNSATURATED ZONE
Authors: SHURBAJI ARM PHILLIPS FM CAMPBELL AR KNOWLTON RG
Citation: Arm. Shurbaji et al., APPLICATION OF A NUMERICAL-MODEL FOR SIMULATING WATER-FLOW, ISOTOPE TRANSPORT, AND HEAT-TRANSFER IN THE UNSATURATED ZONE, Journal of hydrology, 171(1-2), 1995, pp. 143-163
STICKLER-SYNDROME - A MUTATION IN THE NONHELICAL 3'-END OF TYPE-II PROCOLLAGEN GENE
Authors: AHMAD NN DIMASCIO J KNOWLTON RG TASMAN WS
Citation: Nn. Ahmad et al., STICKLER-SYNDROME - A MUTATION IN THE NONHELICAL 3'-END OF TYPE-II PROCOLLAGEN GENE, Archives of ophthalmology, 113(11), 1995, pp. 1454-1457
PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP)
Authors: BRIGGS MD HOFFMAN SMG KING LM OLSEN AS MOHRENWEISER H LEROY JG MORTIER GR RIMOIN DL GAINES ES CEKLENIAK JA KNOWLTON RG COHN DH
Citation: Md. Briggs et al., PSEUDOACHONDROPLASIA AND MED RESULT FROM MUTATIONS IN THE CALCIUM-BINDING DOMAIN OF CARTILAGE OLIGOMERIC MATRIX PROTEIN (COMP), American journal of human genetics, 57(4), 1995, pp. 241-241
PERCEPTION OF EFFORT DURING HIGH-INTENSITY EXERCISE AT LOW, MODERATE AND HIGH WET-BULB GLOBE TEMPERATURES
Authors: GLASS SC KNOWLTON RG BECQUE MD
Citation: Sc. Glass et al., PERCEPTION OF EFFORT DURING HIGH-INTENSITY EXERCISE AT LOW, MODERATE AND HIGH WET-BULB GLOBE TEMPERATURES, European journal of applied physiology and occupational physiology, 68(6), 1994, pp. 519-524
PRENATAL EXCLUSION OF STICKLER SYNDROME
Authors: ZLOTOGORA J GRANAT M KNOWLTON RG
Citation: J. Zlotogora et al., PRENATAL EXCLUSION OF STICKLER SYNDROME, Prenatal diagnosis, 14(2), 1994, pp. 145-147
A SINGLE-BASE PAIR DELETION IN THE NON-HELICAL C-TERMINAL END OF THE TYPE-II PROCOLLAGEN GENE IN A FAMILY WITH THE STICKLER SYNDROME (ARTHROOPHTHALMOPATHY)
Authors: AHMAD NN DIMASCIO J KNOWLTON RG DUA HS TASMAN WT
Citation: Nn. Ahmad et al., A SINGLE-BASE PAIR DELETION IN THE NON-HELICAL C-TERMINAL END OF THE TYPE-II PROCOLLAGEN GENE IN A FAMILY WITH THE STICKLER SYNDROME (ARTHROOPHTHALMOPATHY), Investigative ophthalmology & visual science, 35(4), 1994, pp. 1471-1471
EFFECT OF CONCURRENT EXERCISE AND PHYSOSTIGMINE ON LACTATE AND PYRUVATE IN PLASMA, MUSCLE, AND BRAIN-TISSUE OF RATS
Authors: BUCKENMEYER PJ BABU SR KNOWLTON RG SOMANI SM
Citation: Pj. Buckenmeyer et al., EFFECT OF CONCURRENT EXERCISE AND PHYSOSTIGMINE ON LACTATE AND PYRUVATE IN PLASMA, MUSCLE, AND BRAIN-TISSUE OF RATS, Pharmacology, biochemistry and behavior, 47(4), 1994, pp. 779-788
ANTHROPOMETRIC CHARACTERISTICS AND PERFORMANCE RELATED PREDICTORS OF SUCCESS IN ADOLESCENT POLE VAULTERS
Authors: SULLIVAN JJ KNOWLTON RG HETZLER RK WOELKE PL
Citation: Jj. Sullivan et al., ANTHROPOMETRIC CHARACTERISTICS AND PERFORMANCE RELATED PREDICTORS OF SUCCESS IN ADOLESCENT POLE VAULTERS, Journal of Sports Medicine and Physical Fitness, 34(2), 1994, pp. 179-184
GENETIC-LINKAGE MAPPING OF MULTIPLE EPIPHYSEAL DYSPLASIA TO THE PERICENTROMERIC REGION OF CHROMOSOME-19
Authors: OEHLMANN R SUMMERVILLE GP YEH G WEAVER EJ JIMENEZ SA KNOWLTON RG
Citation: R. Oehlmann et al., GENETIC-LINKAGE MAPPING OF MULTIPLE EPIPHYSEAL DYSPLASIA TO THE PERICENTROMERIC REGION OF CHROMOSOME-19, American journal of human genetics, 54(1), 1994, pp. 3-10
SPONDYLOEPIPHYSEAL DYSPLASIA AND PRECOCIOUS OSTEOARTHRITIS IN A FAMILY WITH AN ARG(75)-]CYS MUTATION IN THE PROCOLLAGEN TYPE-II GENE (COL2A1)
Authors: WILLIAMS CJ CONSIDINE EL KNOWLTON RG REGINATO A NEUMANN G HARRISON D BUXTON P JIMENEZ S PROCKOP DJ
Citation: Cj. Williams et al., SPONDYLOEPIPHYSEAL DYSPLASIA AND PRECOCIOUS OSTEOARTHRITIS IN A FAMILY WITH AN ARG(75)-]CYS MUTATION IN THE PROCOLLAGEN TYPE-II GENE (COL2A1), Human genetics, 92(5), 1993, pp. 499-505
Risultati: 1-25 | 26-30