AAAAAA

   
Results: 1-25 | 26-36
Results: 1-25/36
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
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
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
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
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
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
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
IMMUNOHISTOCHEMICAL ANALYSIS OF THE SKIN IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA USING LAMININ-5 CHAIN SPECIFIC ANTIBODIES IS OF LIMITED VALUE IN PREDICTING THE UNDERLYING GENE MUTATION
Authors: MCMILLAN JR MCGRATH JA PULKKINEN L KON A BURGESON RE ORTONNE JP MENEGUZZI G UITTO J EADY RAJ
Citation: Jr. Mcmillan et al., IMMUNOHISTOCHEMICAL ANALYSIS OF THE SKIN IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA USING LAMININ-5 CHAIN SPECIFIC ANTIBODIES IS OF LIMITED VALUE IN PREDICTING THE UNDERLYING GENE MUTATION, British journal of dermatology, 136(6), 1997, pp. 817-822
PLECTIN DEFICIENCY RESULTS IN MUSCULAR-DYSTROPHY WITH EPIDERMOLYSIS-BULLOSA
Authors: SMITH FJD EADY RAJ LEIGH IM MCMILLAN JR RUGG EL KELSELL DP BRYANT SP SPURR NK GEDDES JF KIRTSCHIG G MILANA G DEBONO AG OWARIBE K WICHE G PULKKINEN L UITTO J MCLEAN WHI LANE EB
Citation: Fjd. Smith et al., PLECTIN DEFICIENCY RESULTS IN MUSCULAR-DYSTROPHY WITH EPIDERMOLYSIS-BULLOSA, Nature genetics, 13(4), 1996, pp. 450-457
LOSS OF PLECTIN CAUSES EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY - CDNA CLONING AND GENOMIC ORGANIZATION
Authors: MCLEAN WHI PULKKINEN L SMITH FJD RUGG EL LANE EB BULLRICH F BURGESON RE AMANO S HUDSON DL OWARIBE K MCGRATH JA MCMILLAN JR EADY RAJ LEIGH IM CHRISTIANO AM UITTO J
Citation: Whi. Mclean et al., LOSS OF PLECTIN CAUSES EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY - CDNA CLONING AND GENOMIC ORGANIZATION, Genes & development, 10(14), 1996, pp. 1724-1735
HEMIDESMOSOME ONTOGENY IN DIGIT SKIN OF THE HUMAN FETUS
Authors: MCMILLAN JR EADY RAJ
Citation: Jr. Mcmillan et Raj. Eady, HEMIDESMOSOME ONTOGENY IN DIGIT SKIN OF THE HUMAN FETUS, Archives of dermatological research, 288(2), 1996, pp. 91-97
LAMININ-5 IS EXPRESSED CONCURRENTLY WITH THE APPEARANCE OF HEMIDESMOSOMES IN HUMAN FETAL SKIN
Authors: MCMILLAN JR SONNENBERG A EADY RAJ
Citation: Jr. Mcmillan et al., LAMININ-5 IS EXPRESSED CONCURRENTLY WITH THE APPEARANCE OF HEMIDESMOSOMES IN HUMAN FETAL SKIN, Journal of investigative dermatology, 107(5), 1996, pp. 26-26
KERATIN MESSENGER-RNA AND PROTEIN EXPRESSION PATTERNS DEMONSTRATE KERATINOCYTE DIVERSITY IN NORMAL EPIDERMIS OF PALMS AND SOLES
Authors: PITERA R PITERA JE SWENSSON O MCLEAN WHI RUGG EL LANE EB LEIGH JM MCMILLAN JR CHURCHILL LJ LANGBEIN L EADY RAJ
Citation: R. Pitera et al., KERATIN MESSENGER-RNA AND PROTEIN EXPRESSION PATTERNS DEMONSTRATE KERATINOCYTE DIVERSITY IN NORMAL EPIDERMIS OF PALMS AND SOLES, Journal of investigative dermatology, 107(3), 1996, pp. 20-20
THE ROLE OF ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL ANALYSIS AS A PRELUDE OR PREREQUISITE FOR THE MOLECULAR DIAGNOSIS OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA PULKKINEN L MCMILLAN JR CHRISTIANO AM DUNNILL MGS ASHTON G UITTO J EADY RAJ
Citation: Ja. Mcgrath et al., THE ROLE OF ULTRASTRUCTURAL AND IMMUNOHISTOCHEMICAL ANALYSIS AS A PRELUDE OR PREREQUISITE FOR THE MOLECULAR DIAGNOSIS OF JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 107(3), 1996, pp. 194-194
MORPHOLOGICAL-CHANGES IN SKIN AND SKELETAL-MUSCLE ASSOCIATED WITH PLECTIN HD1 DEFICIENCY IN EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY/
Authors: MCMILLAN JR GEDDES JF MCLEAN WHI LANE EB LEIGH IM EADY RAJ
Citation: Jr. Mcmillan et al., MORPHOLOGICAL-CHANGES IN SKIN AND SKELETAL-MUSCLE ASSOCIATED WITH PLECTIN HD1 DEFICIENCY IN EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY/, Journal of investigative dermatology, 107(3), 1996, pp. 198-198
TRANSGREDIENT AND FOCAL PALMOPLANTAR KERATODERMA - EVIDENCE FOR KERATIN FILAMENT ABNORMALITIES USING IMMUNOGOLD ELECTRON-MICROSCOPY
Authors: SWENSSON O MCMILLAN JR RATNAVEL RC STEVENS HP LANGBEIN L GRIFFITHS WAD LEIGH IM EADY RAJ
Citation: O. Swensson et al., TRANSGREDIENT AND FOCAL PALMOPLANTAR KERATODERMA - EVIDENCE FOR KERATIN FILAMENT ABNORMALITIES USING IMMUNOGOLD ELECTRON-MICROSCOPY, Journal of investigative dermatology, 107(2), 1996, pp. 21-21
CICATRICIAL PEMPHIGOID AUTOANTIBODIES RECOGNIZE THE BP180 C-TERMINAL DOMAIN IN THE HEMIDESMOSOME ANCHORING FILAMENT COMPLEX
Authors: BEDANE C BALDING S BERNARD P GIUDICE GJ MCMILLAN JR PROST C DIAZ LA EADY RAJ
Citation: C. Bedane et al., CICATRICIAL PEMPHIGOID AUTOANTIBODIES RECOGNIZE THE BP180 C-TERMINAL DOMAIN IN THE HEMIDESMOSOME ANCHORING FILAMENT COMPLEX, Journal of investigative dermatology, 107(2), 1996, pp. 30-30
EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MUSCULAR-DYSTROPHY - LOSS OF PLECTIN EXPRESSION IN SKIN AND MUSCLE
Authors: EADY RAJ LEIGH IM MCMILLAN JR GEDDES JF KIRTSCHIG G KELSELL DP SPURR NK MCLEAN WHI OWARIBE K WICHE G LANE EB
Citation: Raj. Eady et al., EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MUSCULAR-DYSTROPHY - LOSS OF PLECTIN EXPRESSION IN SKIN AND MUSCLE, Journal of investigative dermatology, 106(4), 1996, pp. 221-221
COMPOUND HETEROZYGOSITY FOR A DOMINANT GLYCINE SUBSTITUTION AND A RECESSIVE INTERNAL DUPLICATION MUTATION IN THE TYPE-XVII COLLAGEN GENE RESULTS IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND ABNORMAL DENTITION
Authors: MCGRATH JA GATALICA B LI KH DUNNILL MGS MCMILLAN JR CHRISTIANO AM EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., COMPOUND HETEROZYGOSITY FOR A DOMINANT GLYCINE SUBSTITUTION AND A RECESSIVE INTERNAL DUPLICATION MUTATION IN THE TYPE-XVII COLLAGEN GENE RESULTS IN JUNCTIONAL EPIDERMOLYSIS-BULLOSA AND ABNORMAL DENTITION, The American journal of pathology, 148(6), 1996, pp. 1787-1796
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
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
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
Risultati: 1-25 | 26-36