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Results: << | 101-125 | 126-150 | 151-175 | 176-187
Results: 101-125/187
GLYCINE SUBSTITUTIONS IN THE TRIPLE-HELICAL REGION OF TYPE-VII COLLAGEN RESULT IN A SPECTRUM OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA PHENOTYPESAND PATTERNS OF INHERITANCE
Authors: CHRISTIANO AM MCGRATH JA TAN KC UITTO J
Citation: Am. Christiano et al., GLYCINE SUBSTITUTIONS IN THE TRIPLE-HELICAL REGION OF TYPE-VII COLLAGEN RESULT IN A SPECTRUM OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA PHENOTYPESAND PATTERNS OF INHERITANCE, American journal of human genetics, 58(4), 1996, pp. 671-681
COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN TWINS WITH DYSTROPHICEPIDERMOLYSIS-BULLOSA - A RECESSIVE PATERNAL DELETION INSERTION MUTATION AND A DOMINANT-NEGATIVE MATERNAL GLYCINE SUBSTITUTION RESULT IN A SEVERE PHENOTYPE
Authors: CHRISTIANO AM ANTONLAMPRECHT I AMANO S EBSCHNER U BURGESON RE UITTO J
Citation: Am. Christiano et al., COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN TWINS WITH DYSTROPHICEPIDERMOLYSIS-BULLOSA - A RECESSIVE PATERNAL DELETION INSERTION MUTATION AND A DOMINANT-NEGATIVE MATERNAL GLYCINE SUBSTITUTION RESULT IN A SEVERE PHENOTYPE, American journal of human genetics, 58(4), 1996, pp. 682-693
PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: UITTO J HOVNANIAN A CHRISTIANO AM
Citation: J. Uitto et al., PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Proceedings of the Association of American Physicians, 107(2), 1995, pp. 245-252
MUTATIONS IN THE 180-KD BULLOUS PEMPHIGOID ANTIGEN (BPAG2), A HEMIDESMOSOMAL TRANSMEMBRANE COLLAGEN (COL17A1), IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA GATALICA B CHRISTIANO AM LI KH OWARIBE K MCMILLAN JR EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., MUTATIONS IN THE 180-KD BULLOUS PEMPHIGOID ANTIGEN (BPAG2), A HEMIDESMOSOMAL TRANSMEMBRANE COLLAGEN (COL17A1), IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, Nature genetics, 11(1), 1995, pp. 83-86
INTEGRIN BETA-4 MUTATIONS ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA
Authors: VIDAL F ABERDAM D MIQUEL C CHRISTIANO AM PULKKINEN L UITTO J ORTONNE JP MENEGUZZI G
Citation: F. Vidal et al., INTEGRIN BETA-4 MUTATIONS ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA, Nature genetics, 10(2), 1995, pp. 229-234
DETECTION OF SEQUENCE VARIANTS IN THE GENE ENCODING THE BETA-3 CHAIN OF LAMININ-5 (LAMB3)
Authors: PULKKINEN L MCGRATH JA CHRISTIANO AM UITTO J
Citation: L. Pulkkinen et al., DETECTION OF SEQUENCE VARIANTS IN THE GENE ENCODING THE BETA-3 CHAIN OF LAMININ-5 (LAMB3), Human mutation, 6(1), 1995, pp. 77-84
PRETIBIAL EPIDERMOLYSIS-BULLOSA - GENETIC-LINKAGE TO COL7A1 AND IDENTIFICATION OF A GLYCINE-TO-CYSTEINE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN
Authors: CHRISTIANO AM LEE JYY CHEN WJ LAFORGIA S UITTO J
Citation: Am. Christiano et al., PRETIBIAL EPIDERMOLYSIS-BULLOSA - GENETIC-LINKAGE TO COL7A1 AND IDENTIFICATION OF A GLYCINE-TO-CYSTEINE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN, Human molecular genetics, 4(9), 1995, pp. 1579-1583
A 30 KB DELETION WITHIN THE ELASTIN GENE RESULTS IN FAMILIAL SUPRAVALVULAR AORTIC-STENOSIS
Authors: OLSON TM MICHELS VV URBAN Z CSISZAR K CHRISTIANO AM DRISCOLL DJ FELDT RH BOYD CD THIBODEAU SN
Citation: Tm. Olson et al., A 30 KB DELETION WITHIN THE ELASTIN GENE RESULTS IN FAMILIAL SUPRAVALVULAR AORTIC-STENOSIS, Human molecular genetics, 4(9), 1995, pp. 1677-1679
A HOMOZYGOUS NONSENSE MUTATION IN THE ALPHA-3 CHAIN GENE OF LAMININ-5(LAMA3) IN LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: KIVIRIKKO S MCGRATH JA BAUDOIN C ABERDAM D CIATTI S DUNNILL MGS MCMILLAN JR EADY RAJ ORTONNE JP MENEGUZZI G UITTO J CHRISTIANO AM
Citation: S. Kivirikko et al., A HOMOZYGOUS NONSENSE MUTATION IN THE ALPHA-3 CHAIN GENE OF LAMININ-5(LAMA3) IN LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Human molecular genetics, 4(5), 1995, pp. 959-962
EXTENSIVE ALTERNATE EXON USAGE AT THE 5'-END OF THE SHEEP TROPOELASTIN GENE
Authors: MAUCH JC SANDBERG LB ROOS PJ JIMENEZ F CHRISTIANO AM DEAK SB BOYD CD
Citation: Jc. Mauch et al., EXTENSIVE ALTERNATE EXON USAGE AT THE 5'-END OF THE SHEEP TROPOELASTIN GENE, Matrix biology, 14(8), 1995, pp. 635-641
CLONING OF THE LAMININ ALPHA-3 CHAIN GENE (LAMA3) AND IDENTIFICATION OF A HOMOZYGOUS DELETION IN A PATIENT WITH HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: VIDAL F BAUDOIN C MIQUEL C GALLIANO MF CHRISTIANO AM UITTO J ORTONNE JP MENEGUZZI G
Citation: F. Vidal et al., CLONING OF THE LAMININ ALPHA-3 CHAIN GENE (LAMA3) AND IDENTIFICATION OF A HOMOZYGOUS DELETION IN A PATIENT WITH HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Genomics, 30(2), 1995, pp. 273-280
A HOMOZYGOUS NONSENSE MUTATION IN THE ALPHA-3 CHAIN GENE OF LAMININ-5(LAMA3) IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA - PRENATAL EXCLUSION IN A FETUS AT RISK
Authors: MCGRATH JA KIVIRIKKO S CIATTI S MOSS C DUNNILL MGS EADY RAJ RODECK CH CHRISTIANO AM UITTO J
Citation: Ja. Mcgrath et al., A HOMOZYGOUS NONSENSE MUTATION IN THE ALPHA-3 CHAIN GENE OF LAMININ-5(LAMA3) IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA - PRENATAL EXCLUSION IN A FETUS AT RISK, Genomics, 29(1), 1995, pp. 282-284
CLONING OF THE BETA-3 CHAIN GENE (LAMB3) OF HUMAN LAMININ-5, A CANDIDATE GENE IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: PULKKINEN L GERECKE DR CHRISTIANO AM WAGMAN DW BURGESON RE UITTO J
Citation: L. Pulkkinen et al., CLONING OF THE BETA-3 CHAIN GENE (LAMB3) OF HUMAN LAMININ-5, A CANDIDATE GENE IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Genomics, 25(1), 1995, pp. 192-198
GENETIC-BASIS OF LETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA IN AN AFFECTED FETUS - IMPLICATIONS FOR PRENATAL-DIAGNOSIS IN ONE FAMILY
Authors: MCGRATH JA MCMILLAN JR DUNNILL MGS PULKKINEN L CHRISTIANO AM RODECK CH EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., GENETIC-BASIS OF LETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA IN AN AFFECTED FETUS - IMPLICATIONS FOR PRENATAL-DIAGNOSIS IN ONE FAMILY, Prenatal diagnosis, 15(7), 1995, pp. 647-654
PRENATAL-DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA BY AMNIOCENTESIS
Authors: MARINKOVICH MP MENEGUZZI G BURGESON RE BLANCHETBARDON C HOLBROOK KA SMITH LT CHRISTIANO AM ORTONNE JP
Citation: Mp. Marinkovich et al., PRENATAL-DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA BY AMNIOCENTESIS, Prenatal diagnosis, 15(11), 1995, pp. 1027-1034
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
MUTATIONS IN THE LAMININ-5 LAMB3 GENE IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA - REPLY
Authors: MCGRATH JA CHRISTIANO AM UITTO J
Citation: Ja. Mcgrath et al., MUTATIONS IN THE LAMININ-5 LAMB3 GENE IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA - REPLY, Journal of investigative dermatology, 105(6), 1995, pp. 857-857
MUTATION ANALYSIS, ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL CORRELATIONS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS MCGRATH JA RICHARDS AJ CHRISTIANO AM UITTO J POPE FM EADY RAJ
Citation: Mgs. Dunnill et al., MUTATION ANALYSIS, ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL CORRELATIONS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 105(3), 1995, pp. 449-449
PRENATAL EXCLUSION OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA BY MUTATION ANALYSIS IN THE LAMB3 GENE IN 3 FAMILIES AT RISK FOR RECURRENCE
Authors: CHRISTIANO AM MCGRATH JA UITTO J
Citation: Am. Christiano et al., PRENATAL EXCLUSION OF HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA BY MUTATION ANALYSIS IN THE LAMB3 GENE IN 3 FAMILIES AT RISK FOR RECURRENCE, Journal of investigative dermatology, 105(3), 1995, pp. 449-449
MUTATIONS IN THE 180-KD BULLOUS PEMPHIGOID ANTIGEN GENE (BPAG2 COL17A1) UNDERLIE GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA/
Authors: MCGRATH JA CHRISTIANO AM GATALICA B OWARIBE K MCMILLAN JR EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., MUTATIONS IN THE 180-KD BULLOUS PEMPHIGOID ANTIGEN GENE (BPAG2 COL17A1) UNDERLIE GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA/, Journal of investigative dermatology, 105(3), 1995, pp. 449-449
DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE
Authors: HOVNANIAN A HILAL L BLANCHETBARDON C BODEMER C DEPROST Y STARK CA CHRISTIANO AM DOMMERGUES M TERWILLIGER JD IZQUIERDO L CONTEVILLE P DUMEZ Y UITTO J GOOSSENS M
Citation: A. Hovnanian et al., DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE, Journal of investigative dermatology, 104(4), 1995, pp. 456-461
IDENTIFICATION OF A HOMOZYGOUS ONE-BASEPAIR DELETION IN EXON-14 OF THE LAMB3 GENE IN A PATIENT WITH HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND PRENATAL-DIAGNOSIS IN A FAMILY AT RISK FOR RECURRENCE
Authors: VAILLY J PULKKINEN L MIQUEL C CHRISTIANO AM GERECKE D BURGESON RE UITTO J ORTONNE JP MENEGUZZI G
Citation: J. Vailly et al., IDENTIFICATION OF A HOMOZYGOUS ONE-BASEPAIR DELETION IN EXON-14 OF THE LAMB3 GENE IN A PATIENT WITH HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND PRENATAL-DIAGNOSIS IN A FAMILY AT RISK FOR RECURRENCE, Journal of investigative dermatology, 104(4), 1995, pp. 462-466
ALTERED LAMININ-5 EXPRESSION DUE TO MUTATIONS IN THE GENE ENCODING THE BETA-3 CHAIN (LAMB3) IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA PULKKINEN L CHRISTIANO AM LEIGH IM EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., ALTERED LAMININ-5 EXPRESSION DUE TO MUTATIONS IN THE GENE ENCODING THE BETA-3 CHAIN (LAMB3) IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 467-474
CLONING OF THE GENE FOR HUMAN PEMPHIGUS-VULGARIS ANTIGEN (DESMOGLEIN-3)
Authors: SILOS SA TAMAI K LI KH KIVIRIKKO S CHRISTIANO AM UITTO J
Citation: Sa. Silos et al., CLONING OF THE GENE FOR HUMAN PEMPHIGUS-VULGARIS ANTIGEN (DESMOGLEIN-3), Journal of investigative dermatology, 104(4), 1995, pp. 558-558
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
Risultati: << | 101-125 | 126-150 | 151-175 | 176-187