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Results: 1-15 |
Results: 15
HOMOZYGOUS NONSENSE MUTATION IN HELIX-2 OF K14 CAUSES SEVERE RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: CORDEN LD MELLERIO JE GRATIAN MJ EADY RAJ HARPER JI LACOUR M MAGEE G LANE EB MCGRATH JA MCLEAN WHI
Citation: Ld. Corden et al., HOMOZYGOUS NONSENSE MUTATION IN HELIX-2 OF K14 CAUSES SEVERE RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX, Human mutation, 11(4), 1998, pp. 279-285
SEVERE PALMOPLANTAR HYPERKERATOSIS IN DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX CAUSED BY A MUTATION IN THE KERATIN-14 GENE (KRT14)
Authors: SHEMANKO CS MELLERIO JE TIDMAN MJ LANE EB EADY RAJ
Citation: Cs. Shemanko et al., SEVERE PALMOPLANTAR HYPERKERATOSIS IN DOWLING-MEARA EPIDERMOLYSIS-BULLOSA SIMPLEX CAUSED BY A MUTATION IN THE KERATIN-14 GENE (KRT14), Journal of investigative dermatology, 111(5), 1998, pp. 893-895
TYPE-VII COLLAGEN GENE (COL7A1) MUTATION SCREENING IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA USING THE PROTEIN TRUNCATION TEST
Authors: WHITTOCK NV MATHEW C MCGRATH JA EADY RAJ MELLERIO JE ABBS S
Citation: Nv. Whittock et al., TYPE-VII COLLAGEN GENE (COL7A1) MUTATION SCREENING IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA USING THE PROTEIN TRUNCATION TEST, Journal of investigative dermatology, 110(4), 1998, pp. 617-617
PYLORIC ATRESIA-JUNCTIONAL EPIDERMOLYSIS-BULLOSA SYNDROME - MUTATIONSIN THE INTEGRIN BETA-4 GENE (ITGB4) IN 2 UNRELATED PATIENTS WITH MILDDISEASE
Authors: MELLERIO JE PULKKINEN L MCMILLAN JR LAKE BD HORN HM TIDMAN MJ HARPER JI MCGRATH JA UITTO J EADY RAJ
Citation: Je. Mellerio et al., PYLORIC ATRESIA-JUNCTIONAL EPIDERMOLYSIS-BULLOSA SYNDROME - MUTATIONSIN THE INTEGRIN BETA-4 GENE (ITGB4) IN 2 UNRELATED PATIENTS WITH MILDDISEASE, British journal of dermatology, 139(5), 1998, pp. 862-871
A RECURRENT GLYCINE SUBSTITUTION MUTATION, G2043R, IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE SALASALANIS JC TALAMANTES ML HORN H TIDMAN MJ ASHTON GHS EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., A RECURRENT GLYCINE SUBSTITUTION MUTATION, G2043R, IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA, British journal of dermatology, 139(4), 1998, pp. 730-737
E210K MUTATION IN THE GENE ENCODING THE BETA-3 CHAIN OF LAMININ-5 (LAMB3) IS PREDICTIVE OF A PHENOTYPE OF GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE EADY RAJ ATHERTON DJ LAKE BD MCGRATH JA
Citation: Je. Mellerio et al., E210K MUTATION IN THE GENE ENCODING THE BETA-3 CHAIN OF LAMININ-5 (LAMB3) IS PREDICTIVE OF A PHENOTYPE OF GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, British journal of dermatology, 139(2), 1998, pp. 325-331
FRAMESHIFT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN 5 MEXICAN COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: SALASALANIS JC MELLERIO JE AMAYAGUERRA M ASHTON GHS EADY RAJ MCGRATH JA
Citation: Jc. Salasalanis et al., FRAMESHIFT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN 5 MEXICAN COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, British journal of dermatology, 138(5), 1998, pp. 852-858
PROGNOSTIC IMPLICATIONS OF DETERMINING 180 KDA BULLOUS PEMPHIGOID ANTIGEN (BPAG2) GENE PROTEIN PATHOLOGY IN NEONATAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA/
Authors: MELLERIO JE DENYER JE ATHERTON DJ EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., PROGNOSTIC IMPLICATIONS OF DETERMINING 180 KDA BULLOUS PEMPHIGOID ANTIGEN (BPAG2) GENE PROTEIN PATHOLOGY IN NEONATAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA/, British journal of dermatology, 138(4), 1998, pp. 661-666
PREDICTION OF PHENOTYPE AND PROGNOSIS FROM MOLECULAR ANALYSIS IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE ASHTON GHS DENYER JE ATHERTON DJ EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., PREDICTION OF PHENOTYPE AND PROGNOSIS FROM MOLECULAR ANALYSIS IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 109(3), 1997, pp. 416-416
RECURRENT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: MELLERIO JE DUNNILL MGS ALLISON W ASHTON GHS CHRISTIANO AM UITTO J EADY RAJ MCGRATH JA
Citation: Je. Mellerio et al., RECURRENT MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 109(2), 1997, pp. 246-249
RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX WITH RESPIRATORY COMPLICATIONS CAUSED BY MUTATIONS IN THE PLECTIN GENE
Authors: MELLERIO JE SMITH FJD MCLEAN WHI MCGRATH JA MORRISON GAJ TIERNEY P ALBERT DM PULKKINEN L MCMILLAN JR LANE EB LEIGH IM GEDDES JF UITLO J EADY RAJ
Citation: Je. Mellerio et al., RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX WITH RESPIRATORY COMPLICATIONS CAUSED BY MUTATIONS IN THE PLECTIN GENE, Journal of investigative dermatology, 108(4), 1997, pp. 151-151
RECURRENT MUTATIONS IN BRITISH PATIENTS WITH DYSTROPHIC AND JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA MELLERIO JE DUNNILL MGS ASHTON GHS CHRISTIANO AM PULKKINEN L UITLO J EADY RAJ
Citation: Ja. Mcgrath et al., RECURRENT MUTATIONS IN BRITISH PATIENTS WITH DYSTROPHIC AND JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 108(4), 1997, pp. 660-660
HOMOZYGOUS NONSENSE MUTATION IN THE HELIX-2 DOMAIN OF K14 CAUSES RECESSIVE EBS
Authors: CORDEN LD MELLERIO JE GRATIAN MJ EADY RAJ HARPER JI LACOUR M MAGEE G LANE EB MCLEAN WHI MCGRATH JA
Citation: Ld. Corden et al., HOMOZYGOUS NONSENSE MUTATION IN THE HELIX-2 DOMAIN OF K14 CAUSES RECESSIVE EBS, Journal of investigative dermatology, 108(4), 1997, pp. 662-662
RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX ASSOCIATED WITH PLECTIN MUTATIONS - INFANTILE RESPIRATORY COMPLICATIONS IN 2 UNRELATED CASES
Authors: MELLERIO JE SMITH FJD MCMILLAN JR MCLEAN WHI MCGRATH JA MORRISON GAJ TIERNEY P ALBERT DM WICHE G LEIGH IM GEDDES JF LANE EB UITTO J EADY RAJ
Citation: Je. Mellerio et al., RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX ASSOCIATED WITH PLECTIN MUTATIONS - INFANTILE RESPIRATORY COMPLICATIONS IN 2 UNRELATED CASES, British journal of dermatology, 137(6), 1997, pp. 898-906
A RECURRENT LAMININ-5 MUTATION IN BRITISH PATIENTS WITH LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR A MUTATIONAL HOTSPOT RATHER THAN PROPAGATION OF AN ANCESTRAL ALLELE
Authors: ASHTON GHS MELLERIO JE DUNNILL MGS PULKKINEN L CHRISTIANO AM UITTO J EADY RAJ MCGRATH JA
Citation: Ghs. Ashton et al., A RECURRENT LAMININ-5 MUTATION IN BRITISH PATIENTS WITH LETHAL (HERLITZ) JUNCTIONAL EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR A MUTATIONAL HOTSPOT RATHER THAN PROPAGATION OF AN ANCESTRAL ALLELE, British journal of dermatology, 136(5), 1997, pp. 674-677
Risultati: 1-15 |