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Results: 1-25 | 26-37
Results: 1-25/37
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
GREBE SYNDROME - CLINICAL AND RADIOGRAPHIC FINDINGS IN AFFECTED INDIVIDUALS AND HETEROZYGOUS CARRIERS
Authors: COSTA T RAMSBY G CASSIA F PETERS KR SOARES J CORREA J QUELCESALGADO A TSIPOURAS P
Citation: T. Costa et al., GREBE SYNDROME - CLINICAL AND RADIOGRAPHIC FINDINGS IN AFFECTED INDIVIDUALS AND HETEROZYGOUS CARRIERS, American journal of medical genetics, 75(5), 1998, pp. 523-529
HAMMERHEAD RIBOZYMES TARGETED TO THE FBN1 MESSENGER-RNA CAN DISCRIMINATE A SINGLE-BASE MISMATCH BETWEEN RIBOZYME AND TARGET
Authors: PHYLACTOU LA TSIPOURAS P KILPATRICK MW
Citation: La. Phylactou et al., HAMMERHEAD RIBOZYMES TARGETED TO THE FBN1 MESSENGER-RNA CAN DISCRIMINATE A SINGLE-BASE MISMATCH BETWEEN RIBOZYME AND TARGET, Biochemical and biophysical research communications (Print), 249(3), 1998, pp. 804-810
DISRUPTION OF HUMAN LIMB MORPHOGENESIS BY A DOMINANT-NEGATIVE MUTATION IN CDMP1
Authors: THOMAS JT KILPATRICK MW LIN K ERLACHER L LEMBESSIS P COSTA T TSIPOURAS P LUYTEN FP
Citation: Jt. Thomas et al., DISRUPTION OF HUMAN LIMB MORPHOGENESIS BY A DOMINANT-NEGATIVE MUTATION IN CDMP1, Nature genetics, 17(1), 1997, pp. 58-64
CHRONIC PAIN IS A MANIFESTATION OF THE EHLERS-DANLOS-SYNDROME
Authors: SACHETI A SZEMERE J BERNSTEIN B TAFAS T SCHECHTER N TSIPOURAS P
Citation: A. Sacheti et al., CHRONIC PAIN IS A MANIFESTATION OF THE EHLERS-DANLOS-SYNDROME, Journal of pain and symptom management, 14(2), 1997, pp. 88-93
ABNORMAL LIMB DEVELOPMENT IN GREBE-SYNDROME CAUSED BY MUTATIONS IN CARTILAGE-DERIVED MORPHOGENETIC PROTEIN-1
Authors: TSIPOURAS P KILPATRICK MW LEMBESSIS P THOMAS JT LUYTEN FP COSTA T
Citation: P. Tsipouras et al., ABNORMAL LIMB DEVELOPMENT IN GREBE-SYNDROME CAUSED BY MUTATIONS IN CARTILAGE-DERIVED MORPHOGENETIC PROTEIN-1, American journal of human genetics, 61(4), 1997, pp. 227-227
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
SELECTIVE CLEAVAGE OF A MISSENSE FBN1 MUTATION, CAUSING MARFAN-SYNDROME, BY A HAMMERHEAD RIBOZYME
Authors: KILPATRICK MW LEMBESSIS P GODFREY M TSIPOURAS P
Citation: Mw. Kilpatrick et al., SELECTIVE CLEAVAGE OF A MISSENSE FBN1 MUTATION, CAUSING MARFAN-SYNDROME, BY A HAMMERHEAD RIBOZYME, American journal of human genetics, 61(4), 1997, pp. 290-290
PREIMPLANTATION GENETIC DIAGNOSIS IN MARFAN-SYNDROME
Authors: KILPATRICK MW HARTON GL PHYLACTOU LA LEVINSON G FUGGER EF SCHULMAN JD BLACK SH TSIPOURAS P
Citation: Mw. Kilpatrick et al., PREIMPLANTATION GENETIC DIAGNOSIS IN MARFAN-SYNDROME, Fetal diagnosis and therapy, 11(6), 1996, pp. 402-406
DELIVERY OF A HAMMERHEAD RIBOZYME SPECIFICALLY DOWN-REGULATES THE PRODUCTION OF FIBRILLIN-1 BY CULTURED DERMAL FIBROBLASTS
Authors: KILPATRICK MW PHYLACTOU LA GODFREY M WU CH WU GY TSIPOURAS P
Citation: Mw. Kilpatrick et al., DELIVERY OF A HAMMERHEAD RIBOZYME SPECIFICALLY DOWN-REGULATES THE PRODUCTION OF FIBRILLIN-1 BY CULTURED DERMAL FIBROBLASTS, Human molecular genetics, 5(12), 1996, pp. 1939-1944
A SPLIT HAND-SPLIT FOOT (SHFM3) GENE IS LOCATED AT 10Q24-]25
Authors: GURRIERI F PRINOS P TACKELS D KILPATRICK MW ALLANSON J GENUARDI M VUCKOV A NANNI L SANGIORGI E GAROFALO G NUNES ME NERI G SCHWARTZ C TSIPOURAS P
Citation: F. Gurrieri et al., A SPLIT HAND-SPLIT FOOT (SHFM3) GENE IS LOCATED AT 10Q24-]25, American journal of medical genetics, 62(4), 1996, pp. 427-436
A SPLIT HAND SPLIT FOOT LOCUS MAPS ON CHROMOSOME 10Q24-10Q25
Authors: KILPATRICK MW PRINOS P VUCKOY AM TACKELS D GURRIERI F NERI G SCHWARTZ C TSIPOURAS P
Citation: Mw. Kilpatrick et al., A SPLIT HAND SPLIT FOOT LOCUS MAPS ON CHROMOSOME 10Q24-10Q25, Pediatric research, 39(4), 1996, pp. 862-862
A COMMON FGFR3 GENE MUTATION IN HYPOCHONDROPLASIA
Authors: PRINOS P COSTA T SOMMER A KILPATRICK MW TSIPOURAS P
Citation: P. Prinos et al., A COMMON FGFR3 GENE MUTATION IN HYPOCHONDROPLASIA, Human molecular genetics, 4(11), 1995, pp. 2097-2101
MOLECULAR-CLONING OF THE MICROFIBRILLAR PROTEIN MFAP3 AND ASSIGNMENT OF THE GENE TO HUMAN-CHROMOSOME 5Q32-Q33.2
Authors: ABRAMS WR MA RI KUCICH U BASHIR MM DECKER S TSIPOURAS P MCPHERSON JD WASMUTH JJ ROSENBLOOM J
Citation: Wr. Abrams et al., MOLECULAR-CLONING OF THE MICROFIBRILLAR PROTEIN MFAP3 AND ASSIGNMENT OF THE GENE TO HUMAN-CHROMOSOME 5Q32-Q33.2, Genomics, 26(1), 1995, pp. 47-54
FAMILY HISTORY OF SEVERE CARDIOVASCULAR-DISEASE IN MARFAN-SYNDROME ISASSOCIATED WITH INCREASED AORTIC DIAMETER AND DECREASED SURVIVAL
Authors: SILVERMAN DI GRAY J ROMAN MJ BRIDGES A BURTON K BOXER M DEVEREUX RB TSIPOURAS P
Citation: Di. Silverman et al., FAMILY HISTORY OF SEVERE CARDIOVASCULAR-DISEASE IN MARFAN-SYNDROME ISASSOCIATED WITH INCREASED AORTIC DIAMETER AND DECREASED SURVIVAL, Journal of the American College of Cardiology, 26(4), 1995, pp. 1062-1067
DOWN-REGULATION OF FIBRILLIN EXPRESSION BY ANTISENSE HAMMERHEAD RIBOZYMES
Authors: TSIPOURAS P KILPATRICK MW VELINOV M GODFREY M WU G PHYLACTOU LA
Citation: P. Tsipouras et al., DOWN-REGULATION OF FIBRILLIN EXPRESSION BY ANTISENSE HAMMERHEAD RIBOZYMES, Journal of cellular biochemistry, 1995, pp. 373-373
INFLUENCE OF DEGREE OF COMPLEMENTARITY BETWEEN RIBOZYME AND TARGET ONCLEAVAGE OF FBN1 MESSENGER-RNA BY ANTISENSE HAMMERHEAD RIBOZYMES
Authors: PHYLACTOU LA TSIPOURAS P GODFREY M KILPATRICK MW
Citation: La. Phylactou et al., INFLUENCE OF DEGREE OF COMPLEMENTARITY BETWEEN RIBOZYME AND TARGET ONCLEAVAGE OF FBN1 MESSENGER-RNA BY ANTISENSE HAMMERHEAD RIBOZYMES, Journal of cellular biochemistry, 1995, pp. 216-216
RECEPTOR-MEDIATED DELIVERY OF ANTISENSE HAMMERHEAD RIBOZYME REDUCES THE AMOUNT OF FIBRILLIN SECRETED FROM CULTURED FIBROBLASTS
Authors: KILPATRICK MW PHYLACTOU LA GODFREY M WU G TSIPOURAS P
Citation: Mw. Kilpatrick et al., RECEPTOR-MEDIATED DELIVERY OF ANTISENSE HAMMERHEAD RIBOZYME REDUCES THE AMOUNT OF FIBRILLIN SECRETED FROM CULTURED FIBROBLASTS, Journal of cellular biochemistry, 1995, pp. 226-226
A COMMON FGFR3 GENE MUTATION IS PRESENT IN ACHONDROPLASIA BUT NOT IN HYPOCHONDROPLASIA
Authors: STOILOV I KILPATRICK MW TSIPOURAS P
Citation: I. Stoilov et al., A COMMON FGFR3 GENE MUTATION IS PRESENT IN ACHONDROPLASIA BUT NOT IN HYPOCHONDROPLASIA, American journal of medical genetics, 55(1), 1995, pp. 127-133
A NOVEL G346E FGFR3 MUTATION IN ACHONDROPLASIA
Authors: PRINOS P KILPATRICK MW TSIPOURAS P
Citation: P. Prinos et al., A NOVEL G346E FGFR3 MUTATION IN ACHONDROPLASIA, Pediatric research, 37(4), 1995, pp. 151-151
POSSIBLE GENETIC-HETEROGENEITY IN HYPOCHONDROPLASIA
Authors: STOILOV I KILPATRICK MW TSIPOURAS P COSTA T
Citation: I. Stoilov et al., POSSIBLE GENETIC-HETEROGENEITY IN HYPOCHONDROPLASIA, Journal of Medical Genetics, 32(6), 1995, pp. 492-493
FIBRILLIN-2 (FBN2) MUTATION IN CONGENITAL CONTRACTURAL ARACHNODACTYLY
Authors: WANG M TSIPOURAS P GODFREY M
Citation: M. Wang et al., FIBRILLIN-2 (FBN2) MUTATION IN CONGENITAL CONTRACTURAL ARACHNODACTYLY, American journal of human genetics, 57(4), 1995, pp. 1339-1339
LIFE EXPECTANCY IN THE MARFAN-SYNDROME
Authors: SILVERMAN DI BURTON KJ GRAY J BOSNER MS KOUCHOUKOS NT ROMAN MJ BOXER M DEVEREUX RB TSIPOURAS P
Citation: Di. Silverman et al., LIFE EXPECTANCY IN THE MARFAN-SYNDROME, The American journal of cardiology, 75(2), 1995, pp. 157-160
THE GENE FOR ACHONDROPLASIA MAPS TO THE TELOMERIC REGION OF CHROMOSOME 4P
Authors: VELINOV M SLAUGENHAUPT SA STOILOV I SCOTT CI GUSELLA JF TSIPOURAS P
Citation: M. Velinov et al., THE GENE FOR ACHONDROPLASIA MAPS TO THE TELOMERIC REGION OF CHROMOSOME 4P, Nature genetics, 6(3), 1994, pp. 314-317
LIFE EXPECTANCY IN THE MARFAN-SYNDROME REVISITED
Authors: SILVERMAN DI BURTON K GRAY J BOXER M ROSNER M KOUCHOUKOS N ROMAN MJ DEVEREUX RB TSIPOURAS P
Citation: Di. Silverman et al., LIFE EXPECTANCY IN THE MARFAN-SYNDROME REVISITED, Journal of the American College of Cardiology, 1994, pp. 10000402-10000402
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