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Results: 1-8 |
Results: 8
MUTATION IN FIBRILLIN-1 AND THE MARFANOID-CRANIOSYNOSTOSIS (SHPRINTZEN-GOLDBERG) SYNDROME
Authors: SOOD S ELDADAH ZA KRAUSE WL MCINTOSH I DIETZ HC
Citation: S. Sood et al., MUTATION IN FIBRILLIN-1 AND THE MARFANOID-CRANIOSYNOSTOSIS (SHPRINTZEN-GOLDBERG) SYNDROME, Nature genetics, 12(2), 1996, pp. 209-211
MARFAN-SYNDROME AS A PARADIGM FOR TRANSCRIPT-TARGETED PREIMPLANTATIONDIAGNOSIS OF HETEROZYGOUS MUTATIONS
Authors: ELDADAH ZA GRIFO JA DIETZ HC
Citation: Za. Eldadah et al., MARFAN-SYNDROME AS A PARADIGM FOR TRANSCRIPT-TARGETED PREIMPLANTATIONDIAGNOSIS OF HETEROZYGOUS MUTATIONS, Nature medicine, 1(8), 1995, pp. 798-803
EXPRESSION OF A MUTANT HUMAN FIBRILLIN ALLELE UPON A NORMAL HUMAN OR MURINE GENETIC BACKGROUND RECAPITULATES A MARFAN CELLULAR PHENOTYPE
Authors: ELDADAH ZA BRENN T FURTHMAYR H DIETZ HC
Citation: Za. Eldadah et al., EXPRESSION OF A MUTANT HUMAN FIBRILLIN ALLELE UPON A NORMAL HUMAN OR MURINE GENETIC BACKGROUND RECAPITULATES A MARFAN CELLULAR PHENOTYPE, The Journal of clinical investigation, 95(2), 1995, pp. 874-880
MARFAN-SYNDROME AS PARADIGM FOR TRANSCRIPT-TARGETED PREIMPLANTATION DIAGNOSIS OF HETEROZYGOUS MUTATIONS
Authors: ELDADAH ZA GRIFO JA DIETZ HC
Citation: Za. Eldadah et al., MARFAN-SYNDROME AS PARADIGM FOR TRANSCRIPT-TARGETED PREIMPLANTATION DIAGNOSIS OF HETEROZYGOUS MUTATIONS, American journal of human genetics, 57(4), 1995, pp. 154-154
PRODUCTION OF A MARFAN CELLULAR PHENOTYPE BY EXPRESSION OF A MUTANT HUMAN FIBRILLIN ALLELE UPON A NORMAL HUMAN OR MOUSE GENETIC BACKGROUND
Authors: ELDADAH ZA DIETZ HC
Citation: Za. Eldadah et Hc. Dietz, PRODUCTION OF A MARFAN CELLULAR PHENOTYPE BY EXPRESSION OF A MUTANT HUMAN FIBRILLIN ALLELE UPON A NORMAL HUMAN OR MOUSE GENETIC BACKGROUND, Pediatric research, 35(4), 1994, pp. 10000151-10000151
PRODUCTION OF A MARFAN CELLULAR PHENOTYPE BY EXPRESSING A MUTANT HUMAN FIBRILLIN ALLELE ON A NORMAL HUMAN OR MURINE GENETIC BACKGROUND
Authors: ELDADAH ZA BRENN T FURTHMAYR H DIETZ HC
Citation: Za. Eldadah et al., PRODUCTION OF A MARFAN CELLULAR PHENOTYPE BY EXPRESSING A MUTANT HUMAN FIBRILLIN ALLELE ON A NORMAL HUMAN OR MURINE GENETIC BACKGROUND, American journal of human genetics, 55(3), 1994, pp. 10000004-10000004
NONSENSE MUTATIONS ACT IN CIS TO ALTER SPLICE-SITE SELECTION - VERIFICATION IN A HETEROLOGOUS EXPRESSION SYSTEM
Authors: DIETZ HC KENDZIOR RJ ELDADAH ZA
Citation: Hc. Dietz et al., NONSENSE MUTATIONS ACT IN CIS TO ALTER SPLICE-SITE SELECTION - VERIFICATION IN A HETEROLOGOUS EXPRESSION SYSTEM, American journal of human genetics, 53(3), 1993, pp. 675-675
4 NOVEL FBN1 MUTATIONS IMPLICATE MUTANT TRANSCRIPT LEVEL AND EGF-LIKEDOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME
Authors: ELDADAH ZA MCINTOSH I PYERITZ RE FRANCOMANO CA DIETZ HC
Citation: Za. Eldadah et al., 4 NOVEL FBN1 MUTATIONS IMPLICATE MUTANT TRANSCRIPT LEVEL AND EGF-LIKEDOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1154-1154
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