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Results: 1-25 | 26-36
Results: 1-25/36
MYOTONIA-CONGENITA IN NORTHERN FINLAND - FOUNDER MUTATIONS EXPLAIN THE HIGH PREVALENCE OF THE DISEASE
Authors: PAPPONEN H TOPPINEN T BAUMANN P MYLLYLA VV LEISTI J KUIVANIEMI H TROMP G MYLLYLA R
Citation: H. Papponen et al., MYOTONIA-CONGENITA IN NORTHERN FINLAND - FOUNDER MUTATIONS EXPLAIN THE HIGH PREVALENCE OF THE DISEASE, Molecular biology of the cell, 9, 1998, pp. 1952-1952
FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q
Authors: DEVOTO M SHIMOYA K CAMINIS J OTT J TENENHOUSE A WHYTE MP SEREDA L HALL S CONSIDINE E WILLIAMS CJ TROMP G KUIVANIEMI H ALAKOKKO L PROCKOP DJ SPOTILA LD
Citation: M. Devoto et al., FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q, European journal of human genetics, 6(2), 1998, pp. 151-157
MUTATIONS IN FIBRILLAR COLLAGENS (TYPE-I, TYPE-II, TYPE-III, AND TYPE-XI), FIBRIL-ASSOCIATED COLLAGEN (TYPE-IX), AND NETWORK-FORMING COLLAGEN (TYPE-X) CAUSE A SPECTRUM OF DISEASES OF BONE, CARTILAGE, AND BLOOD-VESSELS
Authors: KUIVANIEMI H TROMP G PROCKOP DJ
Citation: H. Kuivaniemi et al., MUTATIONS IN FIBRILLAR COLLAGENS (TYPE-I, TYPE-II, TYPE-III, AND TYPE-XI), FIBRIL-ASSOCIATED COLLAGEN (TYPE-IX), AND NETWORK-FORMING COLLAGEN (TYPE-X) CAUSE A SPECTRUM OF DISEASES OF BONE, CARTILAGE, AND BLOOD-VESSELS, Human mutation, 9(4), 1997, pp. 300-315
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
A GLYCINE (415)-TO-SERINE SUBSTITUTION RESULTS IN IMPAIRED SECRETION AND DECREASED THERMAL-STABILITY OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV
Authors: ANDERSON DW THAKKERVARIA S TROMP G KUIVANIEMI H STOLLE CA
Citation: Dw. Anderson et al., A GLYCINE (415)-TO-SERINE SUBSTITUTION RESULTS IN IMPAIRED SECRETION AND DECREASED THERMAL-STABILITY OF TYPE-III PROCOLLAGEN IN A PATIENT WITH EHLERS-DANLOS SYNDROME TYPE-IV, Human mutation, 9(1), 1997, pp. 62-63
A RECOMBINANT HOMOTRIMER OF TYPE-I PROCOLLAGEN THAT LACKS THE CENTRAL2 D-PERIODS - THE THERMAL-STABILITY OF THE TRIPLE-HELIX IS DECREASED BY 2 TO 4 DEGREES-C
Authors: ZAFARULLAH K SIERON AL FERTALA A TROMP G KUIVANIEMI H PROCKOP DJ
Citation: K. Zafarullah et al., A RECOMBINANT HOMOTRIMER OF TYPE-I PROCOLLAGEN THAT LACKS THE CENTRAL2 D-PERIODS - THE THERMAL-STABILITY OF THE TRIPLE-HELIX IS DECREASED BY 2 TO 4 DEGREES-C, Matrix biology, 16(5), 1997, pp. 245-253
SYNTHESIS AND CONFORMATIONAL PROPERTIES OF A RECOMBINANT C-PROPEPTIDEOF HUMAN TYPE-III PROCOLLAGEN
Authors: ZAFARULLAH K BROWN EM KUIVANIEMI H TROMP G SIERON AL FERTALA A PROCKOP DJ
Citation: K. Zafarullah et al., SYNTHESIS AND CONFORMATIONAL PROPERTIES OF A RECOMBINANT C-PROPEPTIDEOF HUMAN TYPE-III PROCOLLAGEN, Matrix biology, 16(4), 1997, pp. 201-209
FAMILIAL INTRACRANIAL ANEURYSMS - REPLY
Authors: RONKAINEN A HERNESNIEMI J VANNINEN R KUIVANIEMI H TROMP G
Citation: A. Ronkainen et al., FAMILIAL INTRACRANIAL ANEURYSMS - REPLY, Lancet, 349(9063), 1997, pp. 1478-1478
FAMILIAL INTRACRANIAL ANEURYSMS
Authors: RONKAINEN A HERNESNIEMI J PURANEN M NIEMITUKIA L VANNINEN R RYYNANEN M KUIVANIEMI H TROMP G
Citation: A. Ronkainen et al., FAMILIAL INTRACRANIAL ANEURYSMS, Lancet, 349(9049), 1997, pp. 380-384
REFINED CHROMOSOMAL LOCALIZATION FOR THE BLAU-SYNDROME SUSCEPTIBILITYLOCUS
Authors: TROMP G KUIVANIEMI H RAPHAEL S WILLIAMS CJ
Citation: G. Tromp et al., REFINED CHROMOSOMAL LOCALIZATION FOR THE BLAU-SYNDROME SUSCEPTIBILITYLOCUS, American journal of human genetics, 61(4), 1997, pp. 1737-1737
FAMILIAL ABDOMINAL AORTIC-ANEURYSMS - SCREENING OF 71 FAMILIES
Authors: JAAKKOLA P KUIVANIEMI H PARTANEN K TROMP G LILJESTROM B RYYNANEN M
Citation: P. Jaakkola et al., FAMILIAL ABDOMINAL AORTIC-ANEURYSMS - SCREENING OF 71 FAMILIES, The European journal of surgery, 162(8), 1996, pp. 611-617
DIRECT SEQUENCING OF PCR PRODUCTS DERIVED FROM CDNAS FOR THE PRO-ALPHA-1 AND PRO-ALPHA-2 CHAINS OF TYPE-I PROCOLLAGEN AS A SCREENING METHODTO DETECT MUTATIONS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA
Authors: ZHUANG JP TROMP G KUIVANIEMI H CASTELLS S BUGGE M PROCKOP DJ
Citation: Jp. Zhuang et al., DIRECT SEQUENCING OF PCR PRODUCTS DERIVED FROM CDNAS FOR THE PRO-ALPHA-1 AND PRO-ALPHA-2 CHAINS OF TYPE-I PROCOLLAGEN AS A SCREENING METHODTO DETECT MUTATIONS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA, Human mutation, 7(2), 1996, pp. 89-99
IDENTIFICATION OF NOVEL CDNAS FROM HUMAN AORTA BY DIFFERENTIAL-DISPLAY PCR
Authors: PRICE SJ WATTON SJ KUIVANIEMI H ZHU Y KIOUSIS S GATALICA Z TROMP G
Citation: Sj. Price et al., IDENTIFICATION OF NOVEL CDNAS FROM HUMAN AORTA BY DIFFERENTIAL-DISPLAY PCR, Matrix biology, 15(3), 1996, pp. 170-170
SUBSTITUTION OF ARGININE FOR GLYCINE AT POSITION-154 OF THE ALPHA-1 CHAIN OF TYPE-I COLLAGEN IN A VARIANT OF OSTEOGENESIS IMPERFECTA - COMPARISON TO PREVIOUS CASES WITH THE SAME MUTATION
Authors: ZHUANG JP TROMP G KUIVANIEMI H CASTELLS S PROCKOP DJ
Citation: Jp. Zhuang et al., SUBSTITUTION OF ARGININE FOR GLYCINE AT POSITION-154 OF THE ALPHA-1 CHAIN OF TYPE-I COLLAGEN IN A VARIANT OF OSTEOGENESIS IMPERFECTA - COMPARISON TO PREVIOUS CASES WITH THE SAME MUTATION, American journal of medical genetics, 61(2), 1996, pp. 111-116
SCREENING FOR ANEURYSMS
Authors: RONKAINEN A HERNESNIEMI J KUIVANIEMI H TROMP G
Citation: A. Ronkainen et al., SCREENING FOR ANEURYSMS, Journal of neurosurgery, 84(3), 1996, pp. 534-535
EXPRESSION OF MESSENGER-RNAS FOR LYSYL OXIDASE AND TYPE-III PROCOLLAGEN IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE MENKES AND OCCIPITALHORN SYNDROMES AS DETERMINED BY QUANTITATIVE POLYMERASE CHAIN-REACTION
Authors: KEMPPAINEN R HAMALAINEN ER KUIVANIEMI H TROMP G PIHLAJANIEMI T KIVIRIKKO KI
Citation: R. Kemppainen et al., EXPRESSION OF MESSENGER-RNAS FOR LYSYL OXIDASE AND TYPE-III PROCOLLAGEN IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE MENKES AND OCCIPITALHORN SYNDROMES AS DETERMINED BY QUANTITATIVE POLYMERASE CHAIN-REACTION, Archives of biochemistry and biophysics, 328(1), 1996, pp. 101-106
GENETIC-LINKAGE OF FAMILIAL GRANULOMATOUS INFLAMMATORY ARTHRITIS, SKIN RASH, AND UVEITIS TO CHROMOSOME-16
Authors: TROMP G KUIVANIEMI H RAPHAEL S ALAKOKKO L CHRISTIANO A CONSIDINE E DHULIPALA R HYLAND J JOKINEN A KIVIRIKKO S KORN R MADHATHERI S MCCARRON S PULKKINEN L PUNNETT H SHIMOYA K SPOTILA L TATE A WILLIAMS CJ
Citation: G. Tromp et al., GENETIC-LINKAGE OF FAMILIAL GRANULOMATOUS INFLAMMATORY ARTHRITIS, SKIN RASH, AND UVEITIS TO CHROMOSOME-16, American journal of human genetics, 59(5), 1996, pp. 1097-1107
ABERRANT SPLICING OF THE TYPE-III PROCOLLAGEN MESSENGER-RNA LEADS TO INTRACELLULAR DEGRADATION OF THE PROTEIN IN A PATIENT WITH EHLERS-DANLOS TYPE-IV
Authors: THAKKERVARIA S ANDERSON DW KUIVANIEMI H TROMP G SHIN HG VANDERREST M GLORIEUX FH ALAKOKKO L STOLLE CA
Citation: S. Thakkervaria et al., ABERRANT SPLICING OF THE TYPE-III PROCOLLAGEN MESSENGER-RNA LEADS TO INTRACELLULAR DEGRADATION OF THE PROTEIN IN A PATIENT WITH EHLERS-DANLOS TYPE-IV, Human mutation, 6(2), 1995, pp. 116-125
SUBSTITUTION OF VALINE FOR GLYCINE-793 IN TYPE-III PROCOLLAGEN IN EHLERS-DANLOS-SYNDROME TYPE-IV
Authors: TROMP G DEPAEPE A NUYTINCK L MADHATHERI S KUIVANIEMI H
Citation: G. Tromp et al., SUBSTITUTION OF VALINE FOR GLYCINE-793 IN TYPE-III PROCOLLAGEN IN EHLERS-DANLOS-SYNDROME TYPE-IV, Human mutation, 5(2), 1995, pp. 179-181
LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY
Authors: SPOTILA LD DEVOTO M SHIMOVA K KUIVANIEMI H TROMP G WILLIAMS C ALAKOKKO L SEREDA L HALL S JOKINEN A DHULIPALA R CONSIDINE E MCCARRON S OTT J WHYTE M CAMINIS J TENENHOUSE A PROCKOP DJ
Citation: Ld. Spotila et al., LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY, Journal of bone and mineral research, 10, 1995, pp. 184-184
SPECIAL FEATURES OF FAMILIAL INTRACRANIAL ANEURYSMS - REPORT OF 215 FAMILIAL ANEURYSMS
Authors: RONKAINEN A HERNESNIEMI J TROMP G
Citation: A. Ronkainen et al., SPECIAL FEATURES OF FAMILIAL INTRACRANIAL ANEURYSMS - REPORT OF 215 FAMILIAL ANEURYSMS, Neurosurgery, 37(1), 1995, pp. 43-46
DNA-BASED DIAGNOSTICS IN THE STUDY OF HERITABLE AND ACQUIRED DISORDERS
Authors: SHIKATA H UTSUMI N KUIVANIEMI H TROMP G
Citation: H. Shikata et al., DNA-BASED DIAGNOSTICS IN THE STUDY OF HERITABLE AND ACQUIRED DISORDERS, The Journal of laboratory and clinical medicine, 125(4), 1995, pp. 421-432
EHLERS-DANLOS-SYNDROME TYPE-IV - A SINGLE-BASE SUBSTITUTION OF THE LAST NUCLEOTIDE OF EXON-34 IN COL3A1 LEADS TO EXON SKIPPING
Authors: KUIVANIEMI H TROMP G BERGFELD WF KAY M HELM TN
Citation: H. Kuivaniemi et al., EHLERS-DANLOS-SYNDROME TYPE-IV - A SINGLE-BASE SUBSTITUTION OF THE LAST NUCLEOTIDE OF EXON-34 IN COL3A1 LEADS TO EXON SKIPPING, Journal of investigative dermatology, 105(3), 1995, pp. 352-356
QUANTITATIVE POLYMERASE CHAIN-REACTION OF LYSYL OXIDASE MESSENGER-RNAIN MALIGNANTLY TRANSFORMED HUMAN CELL-LINES DEMONSTRATES THAT THEIR LOW LYSYL OXIDASE ACTIVITY IS DUE TO LOW QUANTITIES OF ITS MESSENGER-RNA AND LOW-LEVELS OF TRANSCRIPTION OF THE RESPECTIVE GENE
Authors: HAMALAINEN ER KEMPPAINEN R KUIVANIEMI H TROMP G VAHERI A PIHLAJANIEMI T KIVIRIKKO KI
Citation: Er. Hamalainen et al., QUANTITATIVE POLYMERASE CHAIN-REACTION OF LYSYL OXIDASE MESSENGER-RNAIN MALIGNANTLY TRANSFORMED HUMAN CELL-LINES DEMONSTRATES THAT THEIR LOW LYSYL OXIDASE ACTIVITY IS DUE TO LOW QUANTITIES OF ITS MESSENGER-RNA AND LOW-LEVELS OF TRANSCRIPTION OF THE RESPECTIVE GENE, The Journal of biological chemistry, 270(37), 1995, pp. 21590-21593
SUBSTITUTION OF GLUTAMIC-ACID FOR GLYCINE-589 IN THE TRIPLE-HELICAL DOMAIN OF TYPE-III PROCOLLAGEN (COL3A1) IN A FAMILY WITH VARIABLE PHENOTYPE OF THE EHLERS-DANLOS SYNDROME TYPE-IV
Authors: MADHATHERI SL TROMP G GUSTAVSON KH KUIVANIEMI H
Citation: Sl. Madhatheri et al., SUBSTITUTION OF GLUTAMIC-ACID FOR GLYCINE-589 IN THE TRIPLE-HELICAL DOMAIN OF TYPE-III PROCOLLAGEN (COL3A1) IN A FAMILY WITH VARIABLE PHENOTYPE OF THE EHLERS-DANLOS SYNDROME TYPE-IV, Human molecular genetics, 3(3), 1994, pp. 511-512
Risultati: 1-25 | 26-36