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Results: 1-11 |
Results: 11
USE OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS TO DETECT SINGLE-BASE CHANGES IN THE GENE FOR COL10A1
Authors: KORKKO J MILUNSKY J PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., USE OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS TO DETECT SINGLE-BASE CHANGES IN THE GENE FOR COL10A1, Human mutation, 1998, pp. 201-203
A GENOME-WIDE SEARCH FOR QUANTITATIVE TRAIT LOCI PREDISPOSING TO LOW BONE-MINERAL DENSITY IN 7 FAMILIES AND ADDITIONAL SIB PAIRS
Authors: SPOTILA L DEVOTO M CAMINIS J OTT J WHYTE M SHIMOYA K KOSICH R KORKKO J TENENHOUSE A PROCKOP D
Citation: L. Spotila et al., A GENOME-WIDE SEARCH FOR QUANTITATIVE TRAIT LOCI PREDISPOSING TO LOW BONE-MINERAL DENSITY IN 7 FAMILIES AND ADDITIONAL SIB PAIRS, European journal of human genetics, 6, 1998, pp. 45-45
CONFORMATION SENSITIVE GEL-ELECTROPHORESIS FOR SIMPLE AND ACCURATE DETECTION OF MUTATIONS - COMPARISON WITH DENATURING GRADIENT GEL-ELECTROPHORESIS AND NUCLEOTIDE SEQUENCING
Authors: KORKKO J ANNUNEN S PIHLAJAMAA T PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., CONFORMATION SENSITIVE GEL-ELECTROPHORESIS FOR SIMPLE AND ACCURATE DETECTION OF MUTATIONS - COMPARISON WITH DENATURING GRADIENT GEL-ELECTROPHORESIS AND NUCLEOTIDE SEQUENCING, Proceedings of the National Academy of Sciences of the United Statesof America, 95(4), 1998, pp. 1681-1685
ANALYSIS OF THE COL1A1 AND COL1A2 GENES BY PCR AMPLIFICATION AND SCANNING BY CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS IDENTIFIES ONLY COL1A1 MUTATIONS IN 15 PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I - IDENTIFICATION OF COMMON SEQUENCES OF NULL-ALLELE MUTATIONS
Authors: KORKKO J ALAKOKKO L DEPAEPE A NUYTINCK L EARLEY J PROCKOP DJ
Citation: J. Korkko et al., ANALYSIS OF THE COL1A1 AND COL1A2 GENES BY PCR AMPLIFICATION AND SCANNING BY CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS IDENTIFIES ONLY COL1A1 MUTATIONS IN 15 PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I - IDENTIFICATION OF COMMON SEQUENCES OF NULL-ALLELE MUTATIONS, American journal of human genetics, 62(1), 1998, pp. 98-110
2 NEW RECURRENT NUCLEOTIDE MUTATIONS IN THE COL1A1 GENE IN 4 PATIENTSWITH OSTEOGENESIS IMPERFECTA - ABOUT 1 5TH ARE RECURRENT/
Authors: KORKKO J KUIVANIEMI H PAASSILTA P ZHUANG JP TROMP G DEPAEPE A PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., 2 NEW RECURRENT NUCLEOTIDE MUTATIONS IN THE COL1A1 GENE IN 4 PATIENTSWITH OSTEOGENESIS IMPERFECTA - ABOUT 1 5TH ARE RECURRENT/, Human mutation, 9(2), 1997, pp. 148-156
THE DETECTION OF MUTATIONS IN COL1A1 AND COL1A2 GENES IN PATIENTS WITH OSTEOGENESIS IMPERFECTA BY THE CONFORMATION SENSITIVE GEL-ELECTROPHORESIS
Authors: KORKKO J ALAKOKKO L PROCKOP DJ
Citation: J. Korkko et al., THE DETECTION OF MUTATIONS IN COL1A1 AND COL1A2 GENES IN PATIENTS WITH OSTEOGENESIS IMPERFECTA BY THE CONFORMATION SENSITIVE GEL-ELECTROPHORESIS, Journal of bone and mineral research, 12, 1997, pp. 526-526
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA WITH NEONATAL DEATH DUE TO RESPIRATORY-FAILURE - MOLECULAR CONFIRMATION FOR SUBSEQUENT PRENATAL-DIAGNOSIS
Authors: GREBE TA COX SR BOGLE A KINNEARNY M KORKKO J
Citation: Ta. Grebe et al., SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA WITH NEONATAL DEATH DUE TO RESPIRATORY-FAILURE - MOLECULAR CONFIRMATION FOR SUBSEQUENT PRENATAL-DIAGNOSIS, American journal of human genetics, 61(4), 1997, pp. 555-555
COMPARISON OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS WITH DENATURING GRADIENT GEL-ELECTROPHORESIS FOR DETECTION OF SINGLE-BASE MUTATIONS IN PCR PRODUCTS
Authors: KORKKO J PIHLAJAMAA T PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., COMPARISON OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS WITH DENATURING GRADIENT GEL-ELECTROPHORESIS FOR DETECTION OF SINGLE-BASE MUTATIONS IN PCR PRODUCTS, Matrix biology, 15(3), 1996, pp. 174-174
PHENOTYPIC EXPRESSIONS OF A GLY154ARG MUTATION IN TYPE-II COLLAGEN IN2 UNRELATED PATIENTS WITH SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD)
Authors: KAITILA I KORKKO J MARTTINEN E ALAKOKKO L
Citation: I. Kaitila et al., PHENOTYPIC EXPRESSIONS OF A GLY154ARG MUTATION IN TYPE-II COLLAGEN IN2 UNRELATED PATIENTS WITH SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD), American journal of medical genetics, 63(1), 1996, pp. 111-122
IDENTIFICATION OF COL2A1 GENE-MUTATIONS IN PATIENTS WITH CHONDRODYSPLASIAS AND FAMILIAL OSTEOARTHRITIS
Authors: RITVANIEMI P KORKKO J BONAVENTURE J VIKKULA M HYLAND J PAASSILTA P KAITILA I KAARIAINEN H SOKOLOV BP HAKALA M MANNISMAKI P MEERSON EM KLEMOLA T WILLIAMS C PELTONEN L KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: P. Ritvaniemi et al., IDENTIFICATION OF COL2A1 GENE-MUTATIONS IN PATIENTS WITH CHONDRODYSPLASIAS AND FAMILIAL OSTEOARTHRITIS, Arthritis and rheumatism, 38(7), 1995, pp. 999-1004
MUTATION IN TYPE-II PROCOLLAGEN (COL2A1) THAT SUBSTITUTES ASPARTATE FOR GLYCINE ALPHA-1-67 AND THAT CAUSES CATARACTS AND RETINAL-DETACHMENT- EVIDENCE FOR MOLECULAR HETEROGENEITY IN THE WAGNER SYNDROME AND THESTICKLER SYNDROME (ARTHROOPHTHALMOPATHY)
Authors: KORKKO J RITVANIEMI P HAATAJA L KAARIAINEN H KIVIRIKKO KI PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., MUTATION IN TYPE-II PROCOLLAGEN (COL2A1) THAT SUBSTITUTES ASPARTATE FOR GLYCINE ALPHA-1-67 AND THAT CAUSES CATARACTS AND RETINAL-DETACHMENT- EVIDENCE FOR MOLECULAR HETEROGENEITY IN THE WAGNER SYNDROME AND THESTICKLER SYNDROME (ARTHROOPHTHALMOPATHY), American journal of human genetics, 53(1), 1993, pp. 55-61
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