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Results: 1-18 |
Results: 18
MUTATIONS OF THE ALPHA-2(V) CHAIN OF TYPE-V COLLAGEN IMPAIR MATRIX ASSEMBLY AND PRODUCE EHLERS-DANLOS SYNDROME TYPE-I
Authors: MICHALICKOVA K SUSIC M WILLING MC WENSTRUP RJ COLE WG
Citation: K. Michalickova et al., MUTATIONS OF THE ALPHA-2(V) CHAIN OF TYPE-V COLLAGEN IMPAIR MATRIX ASSEMBLY AND PRODUCE EHLERS-DANLOS SYNDROME TYPE-I, Human molecular genetics, 7(2), 1998, pp. 249-255
EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY, VILLEFRANCHE, 1997
Authors: BEIGHTON P DEPAEPE A STEINMANN B TSIPOURAS P WENSTRUP RJ
Citation: P. Beighton et al., EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY, VILLEFRANCHE, 1997, American journal of medical genetics, 77(1), 1998, pp. 31-37
AORTIC ROOT DILATATION IN EHLERS-DANLOS-SYNDROME TYPE-I, TYPE-II AND TYPE-III - A REPORT OF 5 CASES
Authors: TILLER GE CASSIDY SB WENSEL C WENSTRUP RJ
Citation: Ge. Tiller et al., AORTIC ROOT DILATATION IN EHLERS-DANLOS-SYNDROME TYPE-I, TYPE-II AND TYPE-III - A REPORT OF 5 CASES, Clinical genetics, 53(6), 1998, pp. 460-465
EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY VILLEFRANCHE, 1997
Authors: BEIGHTON P DEPAEPE A STEINMANN B TSIPOURAS P WENSTRUP RJ
Citation: P. Beighton et al., EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY VILLEFRANCHE, 1997, American journal of human genetics, 61(4), 1997, pp. 260-260
HELICAL MUTATIONS OF THE ALPHA-2(V) CHAIN OF TYPE-V COLLAGEN IMPAIR MATRIX ASSEMBLY AND PRODUCE EHLERS-DANLOS-SYNDROME (EDS) TYPE-I
Authors: MICHALICKOVA K SUSIC S SMITH C WILLING MC WENSTRUP RJ COLE WG
Citation: K. Michalickova et al., HELICAL MUTATIONS OF THE ALPHA-2(V) CHAIN OF TYPE-V COLLAGEN IMPAIR MATRIX ASSEMBLY AND PRODUCE EHLERS-DANLOS-SYNDROME (EDS) TYPE-I, American journal of human genetics, 61(4), 1997, pp. 1991-1991
GAUCHER DISEASE - A PROTOTYPE FOR MOLECULAR MEDICINE
Authors: GRABOWSKI GA SAAL HM WENSTRUP RJ BARTON NW
Citation: Ga. Grabowski et al., GAUCHER DISEASE - A PROTOTYPE FOR MOLECULAR MEDICINE, Critical reviews in oncology/hematology, 23(1), 1996, pp. 25-55
A SPLICE-JUNCTION MUTATION IN THE REGION OF COL5A1 THAT CODES FOR THECARBOXYL PROPEPTIDE OF PRO-ALPHA-1(V) CHAINS RESULTS IN THE GRAVIS FORM OF THE EHLERS-DANLOS SYNDROME (TYPE-I)
Authors: WENSTRUP RJ LANGLAND GT WILLING MC DSOUZA VN COLE WG
Citation: Rj. Wenstrup et al., A SPLICE-JUNCTION MUTATION IN THE REGION OF COL5A1 THAT CODES FOR THECARBOXYL PROPEPTIDE OF PRO-ALPHA-1(V) CHAINS RESULTS IN THE GRAVIS FORM OF THE EHLERS-DANLOS SYNDROME (TYPE-I), Human molecular genetics, 5(11), 1996, pp. 1733-1736
A SPLICE-JUNCTION MUTATION IN THE REGION OF COL5A1 THAT CODES FOR THECARBOXYL PROPEPTIDE OF PRO-ALPHA-1(V) CHAINS RESULTS IN THE GRAVIS FORM OF THE EHLERS-DANLOS SYNDROME (TYPE-1)
Authors: WENSTRUP RJ LANGLAND G WILLING MC DSOUZA V COLE WG
Citation: Rj. Wenstrup et al., A SPLICE-JUNCTION MUTATION IN THE REGION OF COL5A1 THAT CODES FOR THECARBOXYL PROPEPTIDE OF PRO-ALPHA-1(V) CHAINS RESULTS IN THE GRAVIS FORM OF THE EHLERS-DANLOS SYNDROME (TYPE-1), Matrix biology, 15(3), 1996, pp. 173-173
ABNORMAL DIFFERENTIATION IN MC3T3-E1 PREOSTEOBLASTS EXPRESSING A DOMINANT-NEGATIVE TYPE-I COLLAGEN MUTATION
Authors: WENSTRUP RJ WITTE DP FLORER JB
Citation: Rj. Wenstrup et al., ABNORMAL DIFFERENTIATION IN MC3T3-E1 PREOSTEOBLASTS EXPRESSING A DOMINANT-NEGATIVE TYPE-I COLLAGEN MUTATION, Connective tissue research, 34-5(1-4), 1996, pp. 303-311
DISCORDANT EXPRESSION OF OSTEOBLAST MARKERS IN MC3T3-E1 CELLS THAT SYNTHESIZE A HIGH TURNOVER MATRIX
Authors: WENSTRUP RJ FOWLKES JL WITTE DP FLORER JB
Citation: Rj. Wenstrup et al., DISCORDANT EXPRESSION OF OSTEOBLAST MARKERS IN MC3T3-E1 CELLS THAT SYNTHESIZE A HIGH TURNOVER MATRIX, The Journal of biological chemistry, 271(17), 1996, pp. 10271-10276
COL5A1 - FINE GENETIC-MAPPING AND EXCLUSION AS CANDIDATE GENE IN FAMILIES WITH NAIL-PATELLA SYNDROME, TUBEROUS SCLEROSIS-1, HEREDITARY HEMORRHAGIC TELANGIECTASIA, AND EHLERS-DANLOS SYNDROME TYPE-II
Authors: GREENSPAN DS NORTHRUP H AU KS MCALLISTER KA FRANCOMANO CA WENSTRUP RJ MARCHUK DA KWIATKOWSKI DJ
Citation: Ds. Greenspan et al., COL5A1 - FINE GENETIC-MAPPING AND EXCLUSION AS CANDIDATE GENE IN FAMILIES WITH NAIL-PATELLA SYNDROME, TUBEROUS SCLEROSIS-1, HEREDITARY HEMORRHAGIC TELANGIECTASIA, AND EHLERS-DANLOS SYNDROME TYPE-II, Genomics, 25(3), 1995, pp. 737-739
ASSOCIATIONS OF SERUM OSTEOCALCIN AND VITAMIN-D CONCENTRATIONS, BUT NOT BONE-DENSITY, WITH VITAMIN-D-RECEPTOR GENOTYPE
Authors: KALKWARF HJ SPECKER BL WILLIAMS LA WENSTRUP RJ
Citation: Hj. Kalkwarf et al., ASSOCIATIONS OF SERUM OSTEOCALCIN AND VITAMIN-D CONCENTRATIONS, BUT NOT BONE-DENSITY, WITH VITAMIN-D-RECEPTOR GENOTYPE, Journal of bone and mineral research, 10, 1995, pp. 188-188
VITAMIN-D-RECEPTOR GENOTYPE AND ITS RELATION TO BONE-GROWTH AND BONE MINERALIZATION IN INFANTS 3 TO 12 MONTHS OF AGE
Authors: SPECKER BL WILLIAMS LA KALKWARF H LANGLAND C HO M HESS H GIDDENS J WENSTRUP RJ
Citation: Bl. Specker et al., VITAMIN-D-RECEPTOR GENOTYPE AND ITS RELATION TO BONE-GROWTH AND BONE MINERALIZATION IN INFANTS 3 TO 12 MONTHS OF AGE, Journal of bone and mineral research, 10, 1995, pp. 188-188
DISCORDANT EXPRESSION OF ALKALINE-PHOSPHATASE AND OSTEOCALCIN IN OSTEOBLASTS THAT SYNTHESIZE A HIGH-TURNOVER MATRIX - EVIDENCE OF LOCAL-REGULATION OF OSTEOCALCIN GENE-EXPRESSION
Authors: WENSTRUP RJ FLORER JB
Citation: Rj. Wenstrup et Jb. Florer, DISCORDANT EXPRESSION OF ALKALINE-PHOSPHATASE AND OSTEOCALCIN IN OSTEOBLASTS THAT SYNTHESIZE A HIGH-TURNOVER MATRIX - EVIDENCE OF LOCAL-REGULATION OF OSTEOCALCIN GENE-EXPRESSION, Journal of bone and mineral research, 10, 1995, pp. 304-304
THE EHLERS-DANLOS SYNDROMES AND MARFAN-SYNDROME - INHERITED DISEASES OF CONNECTIVE-TISSUE WITH OVERLAPPING CLINICAL-FEATURES
Authors: SIDHUMALIK NK WENSTRUP RJ
Citation: Nk. Sidhumalik et Rj. Wenstrup, THE EHLERS-DANLOS SYNDROMES AND MARFAN-SYNDROME - INHERITED DISEASES OF CONNECTIVE-TISSUE WITH OVERLAPPING CLINICAL-FEATURES, Seminars in dermatology, 14(1), 1995, pp. 40-46
BENZOATE THERAPY AND CARNITINE DEFICIENCY IN NONKETOTIC HYPERGLYCINEMIA
Authors: VANHOVE JLK KISHNANI P MUENZER J WENSTRUP RJ SUMMAR ML BRUMMOND MR LACHIEWICZ AM MILLINGTON DS KAHLER SG
Citation: Jlk. Vanhove et al., BENZOATE THERAPY AND CARNITINE DEFICIENCY IN NONKETOTIC HYPERGLYCINEMIA, American journal of medical genetics, 59(4), 1995, pp. 444-453
ISOLATION OF A NOVEL LATENT TRANSFORMING GROWTH-FACTOR-BETA BINDING-PROTEIN GENE (LTBP-3)
Authors: YIN WS SMILEY E GERMILLER J MECHAM RP FLORER JB WENSTRUP RJ BONADIO J
Citation: Ws. Yin et al., ISOLATION OF A NOVEL LATENT TRANSFORMING GROWTH-FACTOR-BETA BINDING-PROTEIN GENE (LTBP-3), The Journal of biological chemistry, 270(17), 1995, pp. 10147-10160
ROLE OF EXTRACELLULAR-MATRIX IN ALKALINE-PHOSPHATASE EXPRESSION IN DEVELOPING MC3T3-E1 OSTEOBLASTS
Authors: QUARLES LD ZHANG J LEE KJH WENSTRUP RJ
Citation: Ld. Quarles et al., ROLE OF EXTRACELLULAR-MATRIX IN ALKALINE-PHOSPHATASE EXPRESSION IN DEVELOPING MC3T3-E1 OSTEOBLASTS, Journal of bone and mineral research, 8, 1993, pp. 190000311-190000311
Risultati: 1-18 |