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Results: 1-25 | 26-50 | 51-53
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PREIMPLANTATION GENETIC DIAGNOSIS OF HUMAN EMBRYOS FOR MARFANS-SYNDROME
Authors: BLASZCZYK A TANG YX DIETZ HC ADLER A BERKELEY AS KREY LC GRIFO JA
Citation: A. Blaszczyk et al., PREIMPLANTATION GENETIC DIAGNOSIS OF HUMAN EMBRYOS FOR MARFANS-SYNDROME, Journal of assisted reproduction and genetics, 15(5), 1998, pp. 281-284
THE SURVEILLANCE COMPLEX INTERACTS WITH THE TRANSLATION RELEASE FACTORS TO ENHANCE TERMINATION AND DEGRADE ABERRANT MESSENGER-RNAS
Authors: CZAPLINSKI K RUIZECHEVARRIA MJ PAUSHKIN SV HAN X WENG YM PERLICK HA DIETZ HC TERAVANESYAN MD PELTZ SW
Citation: K. Czaplinski et al., THE SURVEILLANCE COMPLEX INTERACTS WITH THE TRANSLATION RELEASE FACTORS TO ENHANCE TERMINATION AND DEGRADE ABERRANT MESSENGER-RNAS, Genes & development, 12(11), 1998, pp. 1665-1677
A MUTATED HUMAN HOMOLOG TO YEAST UPF1 PROTEIN HAS A DOMINANT-NEGATIVEEFFECT ON THE DECAY OF NONSENSE-CONTAINING MESSENGER-RNAS IN MAMMALIAN-CELLS
Authors: SUN XL PERLICK HA DIETZ HC MAQUAT LE
Citation: Xl. Sun et al., A MUTATED HUMAN HOMOLOG TO YEAST UPF1 PROTEIN HAS A DOMINANT-NEGATIVEEFFECT ON THE DECAY OF NONSENSE-CONTAINING MESSENGER-RNAS IN MAMMALIAN-CELLS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(17), 1998, pp. 10009-10014
RESTORATION OF OPEN READING FRAME DUE TO SKIPPING OF AN EXON WITH AN INTERNAL DELETION IN THE COL7A1 GENE
Authors: FRANK J CSERHALMIFRIEDMAN PB PALLER AS ROMERO R DIETZ HC CHRISTIANO AM
Citation: J. Frank et al., RESTORATION OF OPEN READING FRAME DUE TO SKIPPING OF AN EXON WITH AN INTERNAL DELETION IN THE COL7A1 GENE, Journal of investigative dermatology, 110(4), 1998, pp. 481-481
IMPACT OF LABORATORY MOLECULAR DIAGNOSIS ON CONTEMPORARY DIAGNOSTIC-CRITERIA FOR GENETICALLY TRANSMITTED CARDIOVASCULAR-DISEASES - HYPERTROPHIC CARDIOMYOPATHY, LONG-QT SYNDROME, AND MARFAN-SYNDROME - A STATEMENT FOR HEALTH-CARE PROFESSIONALS FROM THE COUNCILS ON CLINICAL CARDIOLOGY, CARDIOVASCULAR-DISEASE IN THE YOUNG, AND BASIC SCIENCE, AMERICAN-HEART-ASSOCIATION
Authors: MARON BJ MOLLER JH SEIDMAN CE VINCENT GM DIETZ HC MOSS AJ TOWBIN JA SONDHEIMER HM PYERITZ RE MCGEE G EPSTEIN AE
Citation: Bj. Maron et al., IMPACT OF LABORATORY MOLECULAR DIAGNOSIS ON CONTEMPORARY DIAGNOSTIC-CRITERIA FOR GENETICALLY TRANSMITTED CARDIOVASCULAR-DISEASES - HYPERTROPHIC CARDIOMYOPATHY, LONG-QT SYNDROME, AND MARFAN-SYNDROME - A STATEMENT FOR HEALTH-CARE PROFESSIONALS FROM THE COUNCILS ON CLINICAL CARDIOLOGY, CARDIOVASCULAR-DISEASE IN THE YOUNG, AND BASIC SCIENCE, AMERICAN-HEART-ASSOCIATION, Circulation, 98(14), 1998, pp. 1460-1471
TARGETING OF THE GENE ENCODING FIBRILLIN-1 RECAPITULATES THE VASCULARASPECT OF MARFAN-SYNDROME
Authors: PEREIRA L ANDRIKOPOULOS K TIAN J LEE SY KEENE DR ONO R REINHARDT DP SAKAI LY BIERY NJ BUNTON T DIETZ HC RAMIREZ F
Citation: L. Pereira et al., TARGETING OF THE GENE ENCODING FIBRILLIN-1 RECAPITULATES THE VASCULARASPECT OF MARFAN-SYNDROME, Nature genetics, 17(2), 1997, pp. 218-222
INHIBITION OF FIBRILLIN-1 EXPRESSION USING U1 SNRNA AS A VEHICLE FOR THE PRESENTATION OF ANTISENSE TARGETING SEQUENCE
Authors: MONTGOMERY RA DIETZ HC
Citation: Ra. Montgomery et Hc. Dietz, INHIBITION OF FIBRILLIN-1 EXPRESSION USING U1 SNRNA AS A VEHICLE FOR THE PRESENTATION OF ANTISENSE TARGETING SEQUENCE, Human molecular genetics, 6(4), 1997, pp. 519-525
DIRECT EVIDENCE FOR NUCLEAR NONSENSE SURVEILLANCE
Authors: ARKING DE PERLICK HA DIETZ HC
Citation: De. Arking et al., DIRECT EVIDENCE FOR NUCLEAR NONSENSE SURVEILLANCE, American journal of human genetics, 61(4), 1997, pp. 122-122
RESTORATION OF OPEN READING FRAME DUE TO SKIPPING OF AN EXON WITH AN INTERNAL DELETION IN THE COL7A1 GENE
Authors: CSERHALMIFRIEDMAN PB PALLER AS ROMERO R DIETZ HC CHRISTIANO AM
Citation: Pb. Cserhalmifriedman et al., RESTORATION OF OPEN READING FRAME DUE TO SKIPPING OF AN EXON WITH AN INTERNAL DELETION IN THE COL7A1 GENE, American journal of human genetics, 61(4), 1997, pp. 123-123
NONSENSE MUTATIONS AND ALTERED SPLICE-SITE SELECTION
Authors: DIETZ HC
Citation: Hc. Dietz, NONSENSE MUTATIONS AND ALTERED SPLICE-SITE SELECTION, American journal of human genetics, 60(3), 1997, pp. 729-730
NONSTOP TREATMENT OF CYSTIC-FIBROSIS
Authors: DIETZ HC HAMOSH A
Citation: Hc. Dietz et A. Hamosh, NONSTOP TREATMENT OF CYSTIC-FIBROSIS, Nature medicine, 2(6), 1996, pp. 608-608
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
MOLECULAR ETIOLOGY, PATHOGENESIS AND DIAGNOSIS OF THE MARFAN-SYNDROME
Authors: DIETZ HC
Citation: Hc. Dietz, MOLECULAR ETIOLOGY, PATHOGENESIS AND DIAGNOSIS OF THE MARFAN-SYNDROME, Progress in pediatric cardiology, 5(3), 1996, pp. 159-166
THE MARFAN-SYNDROME AND THE CARDIOVASCULAR SURGEON
Authors: GOTT VL LASCHINGER JC CAMERON DE DIETZ HC GREENE PS GILLINOV AM PYERITZ RE ALEJO DE FLEISCHER KJ ANHALT GJ STONE CD MCKUSICK VA
Citation: Vl. Gott et al., THE MARFAN-SYNDROME AND THE CARDIOVASCULAR SURGEON, European journal of cardio-thoracic surgery, 10(3), 1996, pp. 149-158
EVALUATION OF INHA GENE AND CATALASE-PEROXIDASE GENE AMONG ISONIAZID-SENSITIVE AND RESISTANT MYCOBACTERIUM-TUBERCULOSIS ISOLATES
Authors: OBRIEN KL DIETZ HC ROMAGNOLI M EIDEN J
Citation: Kl. Obrien et al., EVALUATION OF INHA GENE AND CATALASE-PEROXIDASE GENE AMONG ISONIAZID-SENSITIVE AND RESISTANT MYCOBACTERIUM-TUBERCULOSIS ISOLATES, Molecular and cellular probes, 10(1), 1996, pp. 1-6
BOTH THE WILD-TYPE AND A FUNCTIONAL ISOFORM OF CFTR ARE EXPRESSED IN KIDNEY
Authors: MORALES MM CARROLL TP MORITA T SCHWIEBERT EM DEVUYST O WILSON PD LOPES AG STANTON BA DIETZ HC CUTTING GR GUGGINO WB
Citation: Mm. Morales et al., BOTH THE WILD-TYPE AND A FUNCTIONAL ISOFORM OF CFTR ARE EXPRESSED IN KIDNEY, American journal of physiology. Renal, fluid and electrolyte physiology, 39(6), 1996, pp. 1038-1048
REVISED DIAGNOSTIC-CRITERIA FOR THE MARFAN-SYNDROME
Authors: DEPAEPE A DEVEREUX RB DIETZ HC HENNEKAM RCM PYERITZ RE
Citation: A. Depaepe et al., REVISED DIAGNOSTIC-CRITERIA FOR THE MARFAN-SYNDROME, American journal of medical genetics, 62(4), 1996, pp. 417-426
MAMMALIAN ORTHOLOGUES OF A YEAST REGULATOR OF NONSENSE TRANSCRIPT STABILITY
Authors: PERLICK HA MEDGHALCHI SM SPENCER FA KENDZIOR RJ DIETZ HC
Citation: Ha. Perlick et al., MAMMALIAN ORTHOLOGUES OF A YEAST REGULATOR OF NONSENSE TRANSCRIPT STABILITY, Proceedings of the National Academy of Sciences of the United Statesof America, 93(20), 1996, pp. 10928-10932
GLANZMANN THROMBASTHENIA - COOPERATION BETWEEN SEQUENCE VARIANTS IN CIS DURING SPLICE-SITE SELECTION
Authors: JIN Y DIETZ HC MONTGOMERY RA BELL WR MCINTOSH I COLLER B BRAY PF
Citation: Y. Jin et al., GLANZMANN THROMBASTHENIA - COOPERATION BETWEEN SEQUENCE VARIANTS IN CIS DURING SPLICE-SITE SELECTION, The Journal of clinical investigation, 98(8), 1996, pp. 1745-1754
GLANZMANN THROMBASTHENIA - COOPERATION BETWEEN SEQUENCE VARIANTS IN CIS DURING SPLICE-SITE SELECTION
Authors: JIN Y DIETZ HC MONTGOMERY R BELL WR MCINTOSH I COLLER B BRAY PF
Citation: Y. Jin et al., GLANZMANN THROMBASTHENIA - COOPERATION BETWEEN SEQUENCE VARIANTS IN CIS DURING SPLICE-SITE SELECTION, Blood, 88(10), 1996, pp. 1107-1107
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
MUTATIONS IN THE HUMAN GENE FOR FIBRILLIN-1 (FBN1) IN THE MARFAN-SYNDROME AND RELATED DISORDERS
Authors: DIETZ HC PYERITZ RE
Citation: Hc. Dietz et Re. Pyeritz, MUTATIONS IN THE HUMAN GENE FOR FIBRILLIN-1 (FBN1) IN THE MARFAN-SYNDROME AND RELATED DISORDERS, Human molecular genetics, 4, 1995, pp. 1799-1809
INTERMOLECULAR RECOMBINATION AND USE OF REVERSE COMPLEMENT SPLICE SITES IN THE REGULATED EXPRESSION OF A CHIMERIC TRANSCRIPT IN-VIVO
Authors: DIETZ HC KENDZIOR RJ ABERDAM D BAUDOIN C CIATTI S GUGGINO W MENEGUZZI G UITTO J CHRISTIANO AM
Citation: Hc. Dietz et al., INTERMOLECULAR RECOMBINATION AND USE OF REVERSE COMPLEMENT SPLICE SITES IN THE REGULATED EXPRESSION OF A CHIMERIC TRANSCRIPT IN-VIVO, Pediatric research, 37(4), 1995, pp. 147-147
ALLELIC HETEROGENEITY IN SURFACTANT PROTEIN-B (SP-B) DEFICIENCY
Authors: NOGEE LM JACOBSTEIN D DIETZ HC
Citation: Lm. Nogee et al., ALLELIC HETEROGENEITY IN SURFACTANT PROTEIN-B (SP-B) DEFICIENCY, Pediatric research, 37(4), 1995, pp. 344-344
ORIGINS OF ISOFORM DIVERSITY FROM THE HUMAN LAMA3 GENE - EVIDENCE FORALTERNATIVE SPLICING, INTERMOLECULAR RECOMBINATION, AND CELL-TYPE-SPECIFIC USE OF REVERSE COMPLEMENT SPLICE SITES
Authors: CHRISTIANO AM ABERDAM D CIATTI S BAUDOIN C KENDZIOR RJ ORTONNE JP MENEGUZZI S UITTO J DIETZ HC
Citation: Am. Christiano et al., ORIGINS OF ISOFORM DIVERSITY FROM THE HUMAN LAMA3 GENE - EVIDENCE FORALTERNATIVE SPLICING, INTERMOLECULAR RECOMBINATION, AND CELL-TYPE-SPECIFIC USE OF REVERSE COMPLEMENT SPLICE SITES, Journal of investigative dermatology, 104(4), 1995, pp. 561-561
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