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Results: 1-25 | 26-38
Results: 1-25/38
MODULATION OF DISEASE SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA BYA SPLICE-SITE MUTATION IN COMBINATION WITH A MISSENSE MUTATION IN THECOL7A1 GENE
Authors: WINBERG JO HAMMAMIHAUASLI N NILSSEN O ANTONLAMPRECHT I NAYLOR SL KERBACHER K ZIMMERMANN M KRAJCI P GEDDEDAHL T BRUCKNERTUDERMAN L
Citation: Jo. Winberg et al., MODULATION OF DISEASE SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA BYA SPLICE-SITE MUTATION IN COMBINATION WITH A MISSENSE MUTATION IN THECOL7A1 GENE, Human molecular genetics, 6(7), 1997, pp. 1125-1135
PLECTIN ABNORMALITY IN EPIDERMOLYSIS-BULLOSA SIMPLEX OGNA - NONRESPONSIVENESS OF BASAL KERATINOCYTES TO SOME ANTI-RAT PLECTIN ANTIBODIES
Authors: KOSSHARNES D JAHNSEN FL WICHE G SOYLAND E BRANDTZAEG P GEDDEDAHL T
Citation: D. Kossharnes et al., PLECTIN ABNORMALITY IN EPIDERMOLYSIS-BULLOSA SIMPLEX OGNA - NONRESPONSIVENESS OF BASAL KERATINOCYTES TO SOME ANTI-RAT PLECTIN ANTIBODIES, Experimental dermatology, 6(1), 1997, pp. 41-48
IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN A RARE AUTOSOMAL RECESSIVE DISORDER - THE EXAMPLE OF THE COLLAGEN TYPE-XVII (COL17A1) LOCUS IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: SCHEFFER H STULP RP VERLIND E VANDERMEULEN M BRUCKNERTUDERMAN L GEDDEDAHL T TEMEERMAN GJ SONNENBERG A BUYS CHCM JONKMAN MF
Citation: H. Scheffer et al., IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN A RARE AUTOSOMAL RECESSIVE DISORDER - THE EXAMPLE OF THE COLLAGEN TYPE-XVII (COL17A1) LOCUS IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, Human genetics, 100(2), 1997, pp. 230-235
HOMOZYGOSITY FOR A NOVEL POINT MUTATION IN THE PROTEIN-C GENE LEADINGTO LATE-ONSET OF RECURRENT VENOUS THROMBOSIS AND RECURRENT WARFARIN-INDUCED SKIN NECROSIS
Authors: GEDDEDAHL T LIND B TJONNFJORD G BROSSTAD F
Citation: T. Geddedahl et al., HOMOZYGOSITY FOR A NOVEL POINT MUTATION IN THE PROTEIN-C GENE LEADINGTO LATE-ONSET OF RECURRENT VENOUS THROMBOSIS AND RECURRENT WARFARIN-INDUCED SKIN NECROSIS, Thrombosis and haemostasis, 1997, pp. 1696-1696
CORRELATION OF THE GENOTYPE WITH BIOLOGICAL AND CLINICAL PHENOTYPES OF DYSTROPHIC EB (EBD)
Authors: HAMMAMIHAUNSLI N WINBERG JO SCHUMANN H NILSSEN O ANTONLAMPRECHT I GEDDEDAHL T BRUCKNERTUDERMAN L
Citation: N. Hammamihaunsli et al., CORRELATION OF THE GENOTYPE WITH BIOLOGICAL AND CLINICAL PHENOTYPES OF DYSTROPHIC EB (EBD), Journal of investigative dermatology, 109(3), 1997, pp. 405-405
IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA (GABEB)
Authors: SCHEFFER H STULP RP VERLIND E BRUCKNERTUDERMAN L GEDDEDAHL T TEMEERMAH GJ SONNENBERG A BUYS CHCM JONKMAN MF
Citation: H. Scheffer et al., IMPLICATIONS OF INTRAGENIC MARKER HOMOZYGOSITY AND HAPLOTYPE SHARING IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA (GABEB), Journal of investigative dermatology, 109(3), 1997, pp. 419-419
A RECESSIVE SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PROCESSING OF PROCOLLAGEN-VII AND, IN COMBINATION WITH GLYCINE SUBSTITUTION MUTATIONS, INCREASES THE CLINICAL SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA (EBD)
Authors: WINBERG JO HAUASLI NH NILSSEN O ANTONLAMPRECHT I NAYLOR S KERBACHER K ZIMMERMANN M KRAJCI P GEDDEDAHL T BRUCKNERTUDERMAN L
Citation: Jo. Winberg et al., A RECESSIVE SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PROCESSING OF PROCOLLAGEN-VII AND, IN COMBINATION WITH GLYCINE SUBSTITUTION MUTATIONS, INCREASES THE CLINICAL SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA (EBD), Journal of investigative dermatology, 108(4), 1997, pp. 649-649
FOUNDER EFFECT FOR A SPLICE-SITE MUTATION IN THE TRANSGLUTAMINASE-1 GENE IN CONGENITAL RECESSIVE ICHTHYOSIS TYPE-I AND TYPE-II IN NORWAY
Authors: PIGG M GEDDEDAHL T COX D ANTONLAMPRECHT I HAUSSER I DAHL N
Citation: M. Pigg et al., FOUNDER EFFECT FOR A SPLICE-SITE MUTATION IN THE TRANSGLUTAMINASE-1 GENE IN CONGENITAL RECESSIVE ICHTHYOSIS TYPE-I AND TYPE-II IN NORWAY, American journal of human genetics, 61(4), 1997, pp. 2011-2011
GENETICS OF THE BERARDINELLI-SEIP SYNDROME (CONGENITAL GENERALIZED LIPODYSTROPHY) IN NORWAY - EPIDEMIOLOGY AND GENE-MAPPING
Authors: GEDDEDAHL T TRYGSTAD O VANMALDERGEM L MAGRE J VANDERHAGEN C OLAISEN B STENERSEN M MEVAG B COPEAU J DESBOISMOUTHON C VIGOUROUX C HILBERT P FAURE S WEISSENBACH J
Citation: T. Geddedahl et al., GENETICS OF THE BERARDINELLI-SEIP SYNDROME (CONGENITAL GENERALIZED LIPODYSTROPHY) IN NORWAY - EPIDEMIOLOGY AND GENE-MAPPING, Acta paediatrica, 85, 1996, pp. 52-58
THE GENETIC-BASIS OF EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
Authors: UTTAM J HUTTON E COULOMBE PA ANTONLAMPRECHT I YU QC GEDDEDAHL T FINE JD FUCHS E
Citation: J. Uttam et al., THE GENETIC-BASIS OF EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION, Proceedings of the National Academy of Sciences of the United Statesof America, 93(17), 1996, pp. 9079-9084
ON THE GENETICS OF HYPODONTIA AND MICRODONTIA - SYNERGISM OR ALLELISMOF MAJOR GENES IN A FAMILY WITH 6 AFFECTED MEMBERS
Authors: LYNGSTADAAS SP NORDBO H GEDDEDAHL T THRANE PS
Citation: Sp. Lyngstadaas et al., ON THE GENETICS OF HYPODONTIA AND MICRODONTIA - SYNERGISM OR ALLELISMOF MAJOR GENES IN A FAMILY WITH 6 AFFECTED MEMBERS, Journal of Medical Genetics, 33(2), 1996, pp. 137-142
COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN A FAMILY WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA - A GLYCINE SUBSTITUTION AND AN UNUSUAL SPLICE MUTATION
Authors: HAUASLI NH WINBERG JO NILSSEN O GEDDEDAHL T BRUCKNERTUDERMAN L
Citation: Nh. Hauasli et al., COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN A FAMILY WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA - A GLYCINE SUBSTITUTION AND AN UNUSUAL SPLICE MUTATION, Journal of investigative dermatology, 107(3), 1996, pp. 191-191
AN UNUSUAL SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PHYSIOLOGICAL PROCESSING OF PROCOLLAGEN-VII IN 2 FAMILIES
Authors: WINBERG JO NILSSEN O KRAJCI P NAYLOR S KALKENBACKER K ZIMMERMANN M GEDDEDAHL T BRUCKNERTUDERMAN L
Citation: Jo. Winberg et al., AN UNUSUAL SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PHYSIOLOGICAL PROCESSING OF PROCOLLAGEN-VII IN 2 FAMILIES, Journal of investigative dermatology, 106(4), 1996, pp. 559-559
GENETIC-ANALYSIS OF A SEVERE CASE OF DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: CHAN YM CHENG J GEDDEDAHL T NIEMI KM FUCHS E
Citation: Ym. Chan et al., GENETIC-ANALYSIS OF A SEVERE CASE OF DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX, Journal of investigative dermatology, 106(2), 1996, pp. 327-334
EX-VIVO RAS PEPTIDE VACCINATION IN PATIENTS WITH ADVANCED PANCREATIC-CANCER - RESULTS OF A PHASE I II STUDY/
Authors: GJERTSEN MK BAKKA A BREIVIK J SAETERDAL I GEDDEDAHL T STOKKE KT SOLHEIM BG EGGE TS SOREIDE O THORSBY E GAUDERNACK G
Citation: Mk. Gjertsen et al., EX-VIVO RAS PEPTIDE VACCINATION IN PATIENTS WITH ADVANCED PANCREATIC-CANCER - RESULTS OF A PHASE I II STUDY/, International journal of cancer, 65(4), 1996, pp. 450-453
GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA - EITHER 180-KD BULLOUS PEMPHIGOID ANTIGEN OR LAMININ-5 DEFICIENCY
Authors: JONKMAN MF DEJONG MCJM HEERES K STEIJLEN PM OWARIBE K KUSTER W MEURER M GEDDEDAHL T SONNENBERG A BRUCKNERTUDERMAN L
Citation: Mf. Jonkman et al., GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA - EITHER 180-KD BULLOUS PEMPHIGOID ANTIGEN OR LAMININ-5 DEFICIENCY, Archives of dermatology, 132(2), 1996, pp. 145-150
GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES
Authors: SAJANTILA A LAHERMO P ANTTINEN T LUKKA M SISTONEN P SAVONTAUS ML AULA P BECKMAN L TRANEBJAERG L GEDDEDAHL T ISSELTARVER L DIRIENZO A PAABO S
Citation: A. Sajantila et al., GENES AND LANGUAGES IN EUROPE - AN ANALYSIS OF MITOCHONDRIAL LINEAGES, PCR methods and applications, 5(1), 1995, pp. 42-52
REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-14 MAPPING 1994
Authors: COX DW GEDDEDAHL T MENON AG NYGAARD TG TOMLINSON IM PETERS J STGEORGEHYSLOP PH
Citation: Dw. Cox et al., REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-14 MAPPING 1994, Cytogenetics and cell genetics, 69(3-4), 1995, pp. 160-171
GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA - EITHER 180-KD BULLOUS PEMPHIGOID ANTIGEN (BP180) OR LAMININ-5 IS DEFICIENT
Authors: JONKMAN MF SCHEFFER H SONNENBERG A HEERES K STEIJLEN PM OWARIBE K GEDDEDAHL T KUSTER W MEURER M BRUCKNERTUDERMAN L
Citation: Mf. Jonkman et al., GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA - EITHER 180-KD BULLOUS PEMPHIGOID ANTIGEN (BP180) OR LAMININ-5 IS DEFICIENT, Journal of investigative dermatology, 105(3), 1995, pp. 449-449
REMOVAL OF THE NC-2 DOMAIN FROM PROCOLLAGEN-VII IS REQUIRED FOR BIOGENESIS OF ANCHORING FIBRILS - IMMUNOHISTOCHEMICAL AND MUTATION ANALYSIS
Authors: BRUCKNERTUDERMAN L NILSSEN O ZIMMERMANN DR DOURSZIMMERMAN MT KALINKE DU GEDDEDAHL T WINBERG JO
Citation: L. Brucknertuderman et al., REMOVAL OF THE NC-2 DOMAIN FROM PROCOLLAGEN-VII IS REQUIRED FOR BIOGENESIS OF ANCHORING FIBRILS - IMMUNOHISTOCHEMICAL AND MUTATION ANALYSIS, Journal of investigative dermatology, 105(3), 1995, pp. 450-450
PROCESSING OF PROCOLLAGEN-VII-]COLLAGEN-VII IN HUMAN SKIN - RETENTIONOF THE NC-2 PROPEPTIDE UNDERLIES DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN SOME FAMILIES
Authors: BRUCKNERTUDERMAN L ZIMMERMANN DR DOURSZIMMERMANN MT WINBERG JO NILSSEN O KALINKE U GEDDEDAHL T
Citation: L. Brucknertuderman et al., PROCESSING OF PROCOLLAGEN-VII-]COLLAGEN-VII IN HUMAN SKIN - RETENTIONOF THE NC-2 PROPEPTIDE UNDERLIES DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN SOME FAMILIES, Journal of investigative dermatology, 104(4), 1995, pp. 623-623
IMMUNOHISTOCHEMICAL AND MUTATION ANALYSES DEMONSTRATE THAT PROCOLLAGEN-VII IS PROCESSED TO COLLAGEN-VII THROUGH REMOVAL OF THE NC-2 DOMAIN
Authors: BRUCKNERTUDERMAN L NILSSEN O ZIMMERMANN DR DOURSZIMMERMANN MT KALINKE DU GEDDEDAHL T WINBERG JO
Citation: L. Brucknertuderman et al., IMMUNOHISTOCHEMICAL AND MUTATION ANALYSES DEMONSTRATE THAT PROCOLLAGEN-VII IS PROCESSED TO COLLAGEN-VII THROUGH REMOVAL OF THE NC-2 DOMAIN, The Journal of cell biology, 131(2), 1995, pp. 551-559
BIOCHEMICAL, MOLECULAR AND ULTRASTRUCTURAL HETEROGENEITY IN SEVERE MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: WINBERG JO ANTONLAMPRECHT I KONIG A BRUCKNERTUDERMAN L NILSSEN O GEDDEDAHL T
Citation: Jo. Winberg et al., BIOCHEMICAL, MOLECULAR AND ULTRASTRUCTURAL HETEROGENEITY IN SEVERE MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, EJD. European journal of dermatology, 4(6), 1994, pp. 463-470
JUNCTIONAL EPIDERMOLYSIS-BULLOSA INVERSA (LOCUS EBR2A) ASSIGNED TO 1Q31 BY LINKAGE AND ASSOCIATION TO LAMC1
Authors: GEDDEDAHL T DUPUY BM JONASSEN R WINBERG JO ANTONLAMPRECHT I OLAISEN B
Citation: T. Geddedahl et al., JUNCTIONAL EPIDERMOLYSIS-BULLOSA INVERSA (LOCUS EBR2A) ASSIGNED TO 1Q31 BY LINKAGE AND ASSOCIATION TO LAMC1, Human molecular genetics, 3(8), 1994, pp. 1387-1391
GROWTH-INHIBITION OF A COLONIC ADENOCARCINOMA CELL-LINE (HT29) BY T-CELLS SPECIFIC FOR MUTANT P21 RAS
Authors: GEDDEDAHL T NILSEN E THORSBY E GAUDERNACK G
Citation: T. Geddedahl et al., GROWTH-INHIBITION OF A COLONIC ADENOCARCINOMA CELL-LINE (HT29) BY T-CELLS SPECIFIC FOR MUTANT P21 RAS, Cancer immunology and immunotherapy, 38(2), 1994, pp. 127-134
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