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Results: << | 101-125 | 126-150 | 151-175 | 176-187

Results: 126-150/187

A HOMOZYGOUS NONSENSE MUTATION WITHIN THE LAMA3 GENE IN LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Authors: KIVIRIKKO S MCGRATH JA CHRISTIANO AM BAUDOIN C GILES M DUNNILL S CIATTI S MCMILLAN JR ABERDAM D EADY RAJ ORTONNE JP MENEGUZZI G UITTO J

Citation: S. Kivirikko et al., A HOMOZYGOUS NONSENSE MUTATION WITHIN THE LAMA3 GENE IN LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 569-569

MUTATIONS IN THE GENE FOR THE INTEGRIN BETA-4 SUBUNIT ARE ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA

Authors: VIDAL F ABERDAM D CHRISTIANO AM UITTO J ORTONNE JP MENEGUZZI G

Citation: F. Vidal et al., MUTATIONS IN THE GENE FOR THE INTEGRIN BETA-4 SUBUNIT ARE ASSOCIATED WITH JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA, Journal of investigative dermatology, 104(4), 1995, pp. 570-570

EVIDENCE FOR POSITIONAL EFFECTS OF GLYCINE SUBSTITUTIONS IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN

Authors: ZHANG X CHRISTIANO AM UITTO J

Citation: X. Zhang et al., EVIDENCE FOR POSITIONAL EFFECTS OF GLYCINE SUBSTITUTIONS IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN, Journal of investigative dermatology, 104(4), 1995, pp. 581-581

COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN TWINS WITH DYSTROPHICEPIDERMOLYSIS-BULLOSA - A MATERNAL GLYCINE SUBSTITUTION AND A PATERNAL INSERTION DELETION RESULT IN A SEVERE RECESSIVE PHENOTYPE

Authors: BURGESON RE ANTONLAMPRECHT I CHRISTIANO AM EBSCHNER U AMANO S UITTO J

Citation: Re. Burgeson et al., COMPOUND HETEROZYGOSITY FOR COL7A1 MUTATIONS IN TWINS WITH DYSTROPHICEPIDERMOLYSIS-BULLOSA - A MATERNAL GLYCINE SUBSTITUTION AND A PATERNAL INSERTION DELETION RESULT IN A SEVERE RECESSIVE PHENOTYPE, Journal of investigative dermatology, 104(4), 1995, pp. 582-582

IMPAIRED EXPRESSION OF THE LAMA3 GENE CAUSES HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Authors: BAUDOIN C ABERDAM D CHRISTIANO AM UITTO J ORTONNE JP MENEGUZZI G

Citation: C. Baudoin et al., IMPAIRED EXPRESSION OF THE LAMA3 GENE CAUSES HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 597-597

MUTATIONS IN THE BETA-3 CHAIN GENE OF LAMININ-5 (LAMB3) IN JUNCTIONALEPIDERMOLYSIS-BULLOSA PATIENTS - A FRAMESHIFT DUPLICATION, AN EXON SKIPPING MUTATION, AND A HOTSPOT FOR A NONSENSE MUTATION

Authors: MCGRATH JA CHRISTIANO AM KIVIRIKKO S PULKKINEN L MCMILLAN JR DUNNILL MGS EADY RAJ UITTO J

Citation: Ja. Mcgrath et al., MUTATIONS IN THE BETA-3 CHAIN GENE OF LAMININ-5 (LAMB3) IN JUNCTIONALEPIDERMOLYSIS-BULLOSA PATIENTS - A FRAMESHIFT DUPLICATION, AN EXON SKIPPING MUTATION, AND A HOTSPOT FOR A NONSENSE MUTATION, Journal of investigative dermatology, 104(4), 1995, pp. 597-597

POSITIONAL EFFECTS OF HETEROZYGOUS FRAMESHIFTS IN COL7A1 - SINGLE-BASE DELETIONS WITHIN THE NC-1 AND NC-2 DOMAINS IN THE MITIS FORM OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Authors: CIATTI S CHRISTIANO AM MCGRATH JA ANHALT G UITTO J

Citation: S. Ciatti et al., POSITIONAL EFFECTS OF HETEROZYGOUS FRAMESHIFTS IN COL7A1 - SINGLE-BASE DELETIONS WITHIN THE NC-1 AND NC-2 DOMAINS IN THE MITIS FORM OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 598-598

CONSEQUENCES OF PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA - MARKEDLY REDUCED MESSENGER-RNA LEVELS AND ABSENCE OF TYPE-VII COLLAGEN

Authors: XU YL CHRISTIANO AM EICHENFIELD LF BAUER EA AMANO S BURGESON RE UITTO J

Citation: Yl. Xu et al., CONSEQUENCES OF PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA - MARKEDLY REDUCED MESSENGER-RNA LEVELS AND ABSENCE OF TYPE-VII COLLAGEN, Journal of investigative dermatology, 104(4), 1995, pp. 631-631

COMMON SILENT POLYMORPHISMS WITHIN THE GENES ENCODING THE ALPHA-3, BETA-3 AND GAMMA-2 CHAINS OF LAMININ 5 - POTENTIAL FOR USE IN GENETIC-LINKAGE ANALYSES

Authors: PULKKINEN L MCGRATH JA KIVIRIKKO S CHRISTIANO AM UITTO J

Citation: L. Pulkkinen et al., COMMON SILENT POLYMORPHISMS WITHIN THE GENES ENCODING THE ALPHA-3, BETA-3 AND GAMMA-2 CHAINS OF LAMININ 5 - POTENTIAL FOR USE IN GENETIC-LINKAGE ANALYSES, Journal of investigative dermatology, 104(4), 1995, pp. 631-631

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: LEE JYY CHRISTIANO AM CHEN WJ LAFORGIA S UITTO J

Citation: Jyy. Lee 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, Journal of investigative dermatology, 104(4), 1995, pp. 632-632

DEVELOPMENT OF NEW MICROSATELLITE MARKERS USEFUL FOR THE PRENATAL-DIAGNOSIS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Authors: LAFORGIA S BULLRICH F CHRISTIANO AM CROCE C UITTO J

Citation: S. Laforgia et al., DEVELOPMENT OF NEW MICROSATELLITE MARKERS USEFUL FOR THE PRENATAL-DIAGNOSIS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 667-667

DNA-BASED PRENATAL TESTING FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 16 FAMILIES AT RISK FOR RECURRENCE

Authors: UITTO J HOVNANIAN A CHRISTIANO AM

Citation: J. Uitto et al., DNA-BASED PRENATAL TESTING FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 16 FAMILIES AT RISK FOR RECURRENCE, Journal of investigative dermatology, 104(4), 1995, pp. 667-667

IDENTIFICATION OF A HOMOZYGOUS EXON-SKIPPING MUTATION IN THE LAMC2 GENE IN A PATIENT WITH HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Authors: VAILLY J PULKKINEN L CHRISTIANO AM TRYGGVASON K UITTO J ORTONNE JP MENEGUZZI G

Citation: J. Vailly et al., IDENTIFICATION OF A HOMOZYGOUS EXON-SKIPPING MUTATION IN THE LAMC2 GENE IN A PATIENT WITH HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(3), 1995, pp. 434-437

A GLYCINE-TO-ARGININE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN IN A FAMILY WITH DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Authors: CHRISTIANO AM MORRICONE A PARADISI M ANGELO C MAZZANTI C CAVALIERI R UITTO J

Citation: Am. Christiano et al., A GLYCINE-TO-ARGININE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN IN A FAMILY WITH DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(3), 1995, pp. 438-440

PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGENGENE (COL7A1) IN 3 BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Authors: CHRISTIANO AM SUGA Y GREENSPAN DS OGAWA H UITTO J

Citation: Am. Christiano et al., PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGENGENE (COL7A1) IN 3 BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, The Journal of clinical investigation, 95(3), 1995, pp. 1328-1334

DIFFERERENTIAL CYTOKINE MODULATION OF THE GENES LAMA3, LAMB3, AND LAMC2, ENCODING THE CONSTITUTIVE POLYPEPTIDES, ALPHA-3, BETA-3, AND GAMMA-2, OF HUMAN LAMININ-5 IN EPIDERMAL-KERATINOCYTES

Authors: KORANG K CHRISTIANO AM UITTO J MAUVIEL A

Citation: K. Korang et al., DIFFERERENTIAL CYTOKINE MODULATION OF THE GENES LAMA3, LAMB3, AND LAMC2, ENCODING THE CONSTITUTIVE POLYPEPTIDES, ALPHA-3, BETA-3, AND GAMMA-2, OF HUMAN LAMININ-5 IN EPIDERMAL-KERATINOCYTES, FEBS letters, 368(3), 1995, pp. 556-558

CLONING OF THE HUMAN TYPE-XVII COLLAGEN GENE (COL17A1) - A CANDIDATE GENE FOR JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Authors: GATALICA B LI K MCGRATH JA CHRISTIANO AM UITTO J

Citation: B. Gatalica et al., CLONING OF THE HUMAN TYPE-XVII COLLAGEN GENE (COL17A1) - A CANDIDATE GENE FOR JUNCTIONAL EPIDERMOLYSIS-BULLOSA, American journal of human genetics, 57(4), 1995, pp. 1818-1818

MUTATIONS IN THE GAMMA-2 CHAIN GENE (LAMC2) OF KALININ LAMININ-5 IN THE JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA/

Authors: PULKKINEN L CHRISTIANO AM AIRENNE T HAAKANA H TRYGGVASON K UITTO J

Citation: L. Pulkkinen et al., MUTATIONS IN THE GAMMA-2 CHAIN GENE (LAMC2) OF KALININ LAMININ-5 IN THE JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA/, Nature genetics, 6(3), 1994, pp. 293-298

HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA IS LINKED TO MUTATIONS IN THE GENE (LAMC2) FOR THE GAMMA-2 SUBUNIT OF NICEIN KALININ (LAMININ-5)/

Authors: ABERDAM D GALLIANO MF VAILLY J PULKKINEN L BONIFAS J CHRISTIANO AM TRYGGVASON K UITTO J EPSTEIN EH ORTONNE JP MENEGUZZI G

Citation: D. Aberdam et al., HERLITZS JUNCTIONAL EPIDERMOLYSIS-BULLOSA IS LINKED TO MUTATIONS IN THE GENE (LAMC2) FOR THE GAMMA-2 SUBUNIT OF NICEIN KALININ (LAMININ-5)/, Nature genetics, 6(3), 1994, pp. 299-304

A NOVEL HOMOZYGOUS NONSENSE MUTATION IN THE LAMC2 GENE IN PATIENTS WITH THE HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Authors: BAUDOIN C MIQUEL C GAGNOUXPALACIOS L PULKKINEN L CHRISTIANO AM UITTO J TADINI G ORTONNE JP MENEGUZZI G

Citation: C. Baudoin et al., A NOVEL HOMOZYGOUS NONSENSE MUTATION IN THE LAMC2 GENE IN PATIENTS WITH THE HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Human molecular genetics, 3(10), 1994, pp. 1909-1910

A HOMOZYGOUS NONSENSE MUTATION IN THE BETA-3 CHAIN GENE OF LAMININ-5 (LAMB3) IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Authors: PULKKINEN L CHRISTIANO AM GERECKE D WAGMAN DW BURGESON RE PITTELKOW MR UITTO J

Citation: L. Pulkkinen et al., A HOMOZYGOUS NONSENSE MUTATION IN THE BETA-3 CHAIN GENE OF LAMININ-5 (LAMB3) IN HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Genomics, 24(2), 1994, pp. 357-360

PREMATURE TERMINATION CODONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE, MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

Authors: CHRISTIANO AM ANHALT G GIBBONS S BAUER EA UITTO J

Citation: Am. Christiano et al., PREMATURE TERMINATION CODONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE, MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Genomics, 21(1), 1994, pp. 160-168

STRUCTURAL ORGANIZATION OF THE HUMAN TYPE-VII COLLAGEN GENE (COL7A1),COMPOSED OF MORE EXONS THAN ANY PREVIOUSLY CHARACTERIZED GENE

Authors: CHRISTIANO AM HOFFMAN GG CHUNGHONET LC LEE SB CHENG W UITTO J GREENSPAN DS

Citation: Am. Christiano et al., STRUCTURAL ORGANIZATION OF THE HUMAN TYPE-VII COLLAGEN GENE (COL7A1),COMPOSED OF MORE EXONS THAN ANY PREVIOUSLY CHARACTERIZED GENE, Genomics, 21(1), 1994, pp. 169-179

MOLECULAR-BASIS FOR THE DYSTROPHIC FORMS OF EPIDERMOLYSIS-BULLOSA - MUTATIONS IN THE TYPE-VII COLLAGEN GENE

Authors: UITTO J CHRISTIANO AM

Citation: J. Uitto et Am. Christiano, MOLECULAR-BASIS FOR THE DYSTROPHIC FORMS OF EPIDERMOLYSIS-BULLOSA - MUTATIONS IN THE TYPE-VII COLLAGEN GENE, Archives of dermatological research, 287(1), 1994, pp. 16-22

CLASSIFICATION OF PSEUDOXANTHOMA ELASTICUM - REPORT OF A CONSENSUS CONFERENCE

Authors: LEBWOHL M NELDNER K POPE FM DEPAEPE A CHRISTIANO AM BOYD CD UITTO J MCKUSICK VA

Citation: M. Lebwohl et al., CLASSIFICATION OF PSEUDOXANTHOMA ELASTICUM - REPORT OF A CONSENSUS CONFERENCE, Journal of the American Academy of Dermatology, 30(1), 1994, pp. 103-107

Risultati: << | 101-125 | 126-150 | 151-175 | 176-187