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Results: 1-11 |
Results: 11
2 NOVEL FIBRILLIN-1 MUTATIONS RESULTING IN PREMATURE TERMINATION CODONS BUT IN DIFFERENT MUTANT TRANSCRIPT LEVELS AND CLINICAL PHENOTYPES
Authors: KARTTUNEN L UKKONEN T KAINULAINEN K SYVANEN AC PELTONEN L
Citation: L. Karttunen et al., 2 NOVEL FIBRILLIN-1 MUTATIONS RESULTING IN PREMATURE TERMINATION CODONS BUT IN DIFFERENT MUTANT TRANSCRIPT LEVELS AND CLINICAL PHENOTYPES, Human mutation, 1998, pp. 34-37
PROMOTING ORAL HEALTH FOR THE ELDERLY BY MEANS OF PERSONALIZED ORAL HEALTH-EDUCATION
Authors: PALINPALOKAS T KARTTUNEN L
Citation: T. Palinpalokas et L. Karttunen, PROMOTING ORAL HEALTH FOR THE ELDERLY BY MEANS OF PERSONALIZED ORAL HEALTH-EDUCATION, Journal of dental research, 77(5), 1998, pp. 1335-1335
BADLY ENGINEERED FIBRILLIN - LESSONS FROM MOLECULAR STUDIES OF MARFAN-SYNDROME
Authors: RANTAMAKI T KARTTUNEN L PELTONEN L
Citation: T. Rantamaki et al., BADLY ENGINEERED FIBRILLIN - LESSONS FROM MOLECULAR STUDIES OF MARFAN-SYNDROME, Trends in cardiovascular medicine, 7(8), 1997, pp. 282-288
MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE
Authors: COLLODBEROUD G BEROUD C ADES L BLACK C BOXER M BROCK DJ GODFREY M HAYWARD C KARTTUNEN L MILEWICZ D PELTONEN L RICHARDS RI WANG M JUNIEN C BOILEAU C
Citation: G. Collodberoud et al., MARFAN DATABASE (2ND EDITION) - SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN FBN1 GENE, Nucleic acids research, 25(1), 1997, pp. 147-150
AN ACCURATE METHOD FOR COMPARING TRANSCRIPT LEVELS OF 2 ALLELES OR HIGHLY HOMOLOGOUS GENES - APPLICATION TO FIBRILLIN TRANSCRIPTS IN MARFANPATIENTS FIBROBLASTS
Authors: KARTTUNEN L LONNQVIST L GODFREY M PELTONEN L SYVANEN AC
Citation: L. Karttunen et al., AN ACCURATE METHOD FOR COMPARING TRANSCRIPT LEVELS OF 2 ALLELES OR HIGHLY HOMOLOGOUS GENES - APPLICATION TO FIBRILLIN TRANSCRIPTS IN MARFANPATIENTS FIBROBLASTS, PCR methods and applications, 6(5), 1996, pp. 392-403
STUDYING THE CONSEQUENCES OF NMFS MUTATIONS USING AN IN-VITRO MODEL
Authors: RANTAMAKI T KARTTUNEN L KIELTY CM PELTONEN L
Citation: T. Rantamaki et al., STUDYING THE CONSEQUENCES OF NMFS MUTATIONS USING AN IN-VITRO MODEL, Matrix biology, 15(3), 1996, pp. 173-173
A POINT MUTATION CREATING AN EXTRA N-GLYCOSYLATION SITE IN FIBRILLIN-1 RESULTS IN NEONATAL MARFAN-SYNDROME
Authors: LONNQVIST L KARTTUNEN L RANTAMAKI T KIELTY C RAGHUNATH M PELTONEN L
Citation: L. Lonnqvist et al., A POINT MUTATION CREATING AN EXTRA N-GLYCOSYLATION SITE IN FIBRILLIN-1 RESULTS IN NEONATAL MARFAN-SYNDROME, Genomics, 36(3), 1996, pp. 468-475
PRENATAL-DIAGNOSIS OF MARFAN-SYNDROME - IDENTIFICATION OF A FIBRILLIN-1 MUTATION IN CHORIONIC VILLUS SAMPLE
Authors: RANTAMAKI T RAGHUNATH M KARTTUNEN L LONNQVIST L CHILD A PELTONEN L
Citation: T. Rantamaki et al., PRENATAL-DIAGNOSIS OF MARFAN-SYNDROME - IDENTIFICATION OF A FIBRILLIN-1 MUTATION IN CHORIONIC VILLUS SAMPLE, Prenatal diagnosis, 15(12), 1995, pp. 1176-1181
MUTATIONS IN THE FIBRILLIN GENE RESPONSIBLE FOR DOMINANT ECTOPIA LENTIS AND NEONATAL MARFAN-SYNDROME
Authors: KAINULAINEN K KARTTUNEN L PUHAKKA L SAKAI L PELTONEN L
Citation: K. Kainulainen et al., MUTATIONS IN THE FIBRILLIN GENE RESPONSIBLE FOR DOMINANT ECTOPIA LENTIS AND NEONATAL MARFAN-SYNDROME, Nature genetics, 6(1), 1994, pp. 64-69
A COMPOUND-HETEROZYGOUS MARFAN PATIENT - 2 DEFECTIVE FIBRILLIN ALLELES RESULT IN A LETHAL PHENOTYPE
Authors: KARTTUNEN L RAGHUNATH M LONNQVIST L PELTONEN L
Citation: L. Karttunen et al., A COMPOUND-HETEROZYGOUS MARFAN PATIENT - 2 DEFECTIVE FIBRILLIN ALLELES RESULT IN A LETHAL PHENOTYPE, American journal of human genetics, 55(6), 1994, pp. 1083-1091
1ST CLUES TO THE GENOTYPE-PHENOTYPE CORRELATION IN MARFAN-SYNDROME
Authors: PELTONEN L KAINULAINEN K KARTTUNEN L LONNQVIST L RANTAMAKI T
Citation: L. Peltonen et al., 1ST CLUES TO THE GENOTYPE-PHENOTYPE CORRELATION IN MARFAN-SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1210-1210
Risultati: 1-11 |