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Results: 1-25/118
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
PLAKOPHILIN-1 - PARTIAL GENOMIC ORGANIZATION AND MUTATIONS RESULTING IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME
Authors: MCGRATH JA MCMILLAN JR HOEGER PH MELLERLO JE ASHTON GHS HARPER JI EADY RAJ
Citation: Ja. Mcgrath et al., PLAKOPHILIN-1 - PARTIAL GENOMIC ORGANIZATION AND MUTATIONS RESULTING IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME, Journal of investigative dermatology, 110(4), 1998, pp. 473-473
ALLELIC HETEROGENEITY OF TYPE-VII COLLAGEN GENE (COL7A1) MUTATIONS INEPIDERMOLYSIS-BULLOSA PRURIGINOSA
Authors: MELLERLO JE ASHTON GHS SALASALANIS JC LYON CC GRIFFITHS WAD ATHERTON DJ EADY RAJ MCGRATH JA
Citation: Je. Mellerlo et al., ALLELIC HETEROGENEITY OF TYPE-VII COLLAGEN GENE (COL7A1) MUTATIONS INEPIDERMOLYSIS-BULLOSA PRURIGINOSA, Journal of investigative dermatology, 110(4), 1998, pp. 508-508
ROLE OF PLAKOPHILIN 1 IN EPITHELIAL DEVELOPMENT AND DESMOSOME FUNCTION
Authors: MCMILLAN JR MCGRATH JA HATZFELD M GARROD DR HOEGER PH HARPER JI LAKE BD EADY RAJ
Citation: Jr. Mcmillan et al., ROLE OF PLAKOPHILIN 1 IN EPITHELIAL DEVELOPMENT AND DESMOSOME FUNCTION, Journal of investigative dermatology, 110(4), 1998, pp. 538-538
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
HEMIDESMOSOMES SHOW ABNORMAL ASSOCIATION WITH THE KERATIN FILAMENT NETWORK IN JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA
Authors: MCMILIAN JR MCGRATH JA TIDMAN MJ EADY RAJ
Citation: Jr. Mcmilian et al., HEMIDESMOSOMES SHOW ABNORMAL ASSOCIATION WITH THE KERATIN FILAMENT NETWORK IN JUNCTIONAL FORMS OF EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 110(2), 1998, pp. 132-137
SPECIALIZED KERATIN EXPRESSION PATTERN IN HUMAN RIDGED SKIN AS AN ADAPTATION TO HIGH PHYSICAL STRESS
Authors: SWENSSON O LANGBEIN L MCMILLAN JR STEVENS HP LEIGH IM MCLEAN WHI LANE EB EADY RAJ
Citation: O. Swensson et al., SPECIALIZED KERATIN EXPRESSION PATTERN IN HUMAN RIDGED SKIN AS AN ADAPTATION TO HIGH PHYSICAL STRESS, British journal of dermatology, 139(5), 1998, pp. 767-775
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
ACQUIRED JUNCTIONAL EPIDERMOLYSIS-BULLOSA ASSOCIATED WITH IGG AUTOANTIBODIES TO THE BETA-SUBUNIT OF LAMININ-5
Authors: KIRTSCHIG G CAUX F MCMILLAN JR BEDANE C ABERDAM D ORTONNE JP EADY RAJ PROST C
Citation: G. Kirtschig et al., ACQUIRED JUNCTIONAL EPIDERMOLYSIS-BULLOSA ASSOCIATED WITH IGG AUTOANTIBODIES TO THE BETA-SUBUNIT OF LAMININ-5, British journal of dermatology, 138(1), 1998, pp. 125-130
MUTATIONS IN THE PLAKOPHILIN-1 GENE RESULT IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME
Authors: MCGRATH JA MCMILLAN JR SHEMANKO CS RUNSWICK SK LEIGHT IM LANE EB GARROD DR EADY RAJ
Citation: Ja. Mcgrath et al., MUTATIONS IN THE PLAKOPHILIN-1 GENE RESULT IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME, Nature genetics, 17(2), 1997, pp. 240-244
THE ROLE OF IMMUNOHISTOCHEMISTRY IN THE DIAGNOSIS OF THE NONLETHAL FORMS OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA EADY RAJ
Citation: Ja. Mcgrath et Raj. Eady, THE ROLE OF IMMUNOHISTOCHEMISTRY IN THE DIAGNOSIS OF THE NONLETHAL FORMS OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of dermatological science, 14(1), 1997, pp. 68-75
HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA - A CASE-REPORT AND REVIEW OF CURRENT DIAGNOSTIC METHODS
Authors: BASARAB T DUNNILL MGS EADY RAJ RUSSELLJONES R
Citation: T. Basarab et al., HERLITZ JUNCTIONAL EPIDERMOLYSIS-BULLOSA - A CASE-REPORT AND REVIEW OF CURRENT DIAGNOSTIC METHODS, Pediatric dermatology, 14(4), 1997, pp. 307-311
HEPARAN-SULFATE PROTEOGLYCAN AND WOUND-HEALING IN SKIN
Authors: MCGRATH JA EADY RAJ
Citation: Ja. Mcgrath et Raj. Eady, HEPARAN-SULFATE PROTEOGLYCAN AND WOUND-HEALING IN SKIN, Journal of pathology, 183(3), 1997, pp. 251-252
LORICRIN MUTATION IN VOHWINKELS KERATODERMA IS UNIQUE TO THE VARIANT WITH ICHTHYOSIS
Authors: KORGE BP ISHIDAYAMAMOTO A PUNTER C DOPPINGHEPENSTAL PJC IIZUKA H STEPHENSON A EADY RAJ MUNRO CS
Citation: Bp. Korge et al., LORICRIN MUTATION IN VOHWINKELS KERATODERMA IS UNIQUE TO THE VARIANT WITH ICHTHYOSIS, Journal of investigative dermatology, 109(4), 1997, pp. 604-610
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
ABNORMAL KERATIN FILAMENT ASSOCIATION WITH HEMIDESMOSOMES IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: MCMILLAN JR MCGRATH JA TIDMAN MJ EADY RAJ
Citation: Jr. Mcmillan et al., ABNORMAL KERATIN FILAMENT ASSOCIATION WITH HEMIDESMOSOMES IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 109(3), 1997, pp. 419-419
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
BULLOUS PEMPHIGOID AND CICATRICIAL PEMPHIGOID AUTOANTIBODIES REACT WITH ULTRASTRUCTURALLY SEPARABLE EPITOPES ON THE BP180 ECTODOMAIN - EVIDENCE THAT BP180 SPANS THE LAMINA-LUCIDA
Authors: BEDANE C MCMILLAN JR BALDING SD BERNARD P PROST C BONNETBLANC JM DIAZ LA EADY RAJ GIUDICE GJ
Citation: C. Bedane et al., BULLOUS PEMPHIGOID AND CICATRICIAL PEMPHIGOID AUTOANTIBODIES REACT WITH ULTRASTRUCTURALLY SEPARABLE EPITOPES ON THE BP180 ECTODOMAIN - EVIDENCE THAT BP180 SPANS THE LAMINA-LUCIDA, Journal of investigative dermatology, 108(6), 1997, pp. 901-907
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
ABNORMAL KERATINIZATION AND LORICRIN MUTATION IN VOHWINKELS-SYNDROME (VS) WITH ICHTHYOSIS
Authors: ISHIDAYAMAMOTO A KORGE BP PUENTER C DOPPINGHEPENSTAL T HOHL D IIZUKA H STEPHENSON AM EADY RAJ MUNRO CS
Citation: A. Ishidayamamoto et al., ABNORMAL KERATINIZATION AND LORICRIN MUTATION IN VOHWINKELS-SYNDROME (VS) WITH ICHTHYOSIS, Journal of investigative dermatology, 108(4), 1997, pp. 642-642
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