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Results: 1-25 | 26-30
Results: 1-25/30
INCONTINENTIA PIGMENTI - VARIABLE DISEASE EXPRESSION WITHIN AN AFFECTED FAMILY
Authors: BASARAB T DUNNILL MGS MUNN SE RUSSELLJONES R
Citation: T. Basarab et al., INCONTINENTIA PIGMENTI - VARIABLE DISEASE EXPRESSION WITHIN AN AFFECTED FAMILY, JEADV. Journal of the European Academy of Dermatology and Venereology, 11(2), 1998, pp. 173-176
NECROLYTIC MIGRATORY ERYTHEMA - A CLASSICAL CUTANEOUS PRESENTATION OFTHE GLUCAGONOMA SYNDROME
Authors: JONES SAV DUNNILL MGS WILDING J LIDDELL K GORSUCH AN BLOOM SR BLACK MM
Citation: Sav. Jones et al., NECROLYTIC MIGRATORY ERYTHEMA - A CLASSICAL CUTANEOUS PRESENTATION OFTHE GLUCAGONOMA SYNDROME, JEADV. Journal of the European Academy of Dermatology and Venereology, 9(1), 1997, pp. 68-73
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
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
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
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
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
CLINICOPATHOLOGICAL CORRELATIONS OF COMPOUND HETEROZYGOUS COL7A1 MUTATIONS RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS MCGRATH JA RICHARDS AJ CHRISTIANO AM UITTO J POPE FM EADY RAJ
Citation: Mgs. Dunnill et al., CLINICOPATHOLOGICAL CORRELATIONS OF COMPOUND HETEROZYGOUS COL7A1 MUTATIONS RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 107(2), 1996, pp. 171-177
PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY (POLYMORPHIC ERUPTION OF PREGNANCY) - 2 UNUSUAL CASES
Authors: JONES SAV DUNNILL MGS BLACK MM
Citation: Sav. Jones et al., PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY (POLYMORPHIC ERUPTION OF PREGNANCY) - 2 UNUSUAL CASES, British journal of dermatology, 135(1), 1996, pp. 102-105
FIRST TRIMESTER DNA-BASED EXCLUSION OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA FROM CHORIONIC VILLUS SAMPLING
Authors: MCGRATH JA DUNNILL MGS CHRISTIANO AM LAKE BD ATHERTON DJ RODECK CH POPE FM EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., FIRST TRIMESTER DNA-BASED EXCLUSION OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA FROM CHORIONIC VILLUS SAMPLING, British journal of dermatology, 134(4), 1996, pp. 734-739
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
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
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
THE MANAGEMENT OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS EADY RAJ
Citation: Mgs. Dunnill et Raj. Eady, THE MANAGEMENT OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Clinical and experimental dermatology, 20(3), 1995, pp. 179-188
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
USE OF TYPE-VII COLLAGEN GENE (COL7A1) MARKERS IN PRENATAL-DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS RODECK CH RICHARDS AJ ATHERTON D LAKE BD PETROU M EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., USE OF TYPE-VII COLLAGEN GENE (COL7A1) MARKERS IN PRENATAL-DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of Medical Genetics, 32(9), 1995, pp. 749-750
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
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
USE OF INTRAGENIC AND FLANKING COLLAGEN-VII GENE (COL7A1) MARKERS IN THE PRENATAL-DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS RICHARDS AJ RODECK CH ATHERTON D EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., USE OF INTRAGENIC AND FLANKING COLLAGEN-VII GENE (COL7A1) MARKERS IN THE PRENATAL-DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 628-628
THE H1 DOMAIN OF KERATIN-5 IS A HOTSPOT FOR MUTATIONS ASSOCIATED WITHEPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE
Authors: RUGG EL DUNNILL MGS EADY RAJ LANE EB
Citation: El. Rugg et al., THE H1 DOMAIN OF KERATIN-5 IS A HOTSPOT FOR MUTATIONS ASSOCIATED WITHEPIDERMOLYSIS-BULLOSA SIMPLEX WEBER-COCKAYNE, Journal of investigative dermatology, 104(4), 1995, pp. 632-632
DERMATOLOGY IN THE INTENSIVE-CARE UNIT
Authors: DUNNILL MGS HANDFIELDJONES SE TREACHER D MCGIBBON DH
Citation: Mgs. Dunnill et al., DERMATOLOGY IN THE INTENSIVE-CARE UNIT, British journal of dermatology, 132(2), 1995, pp. 226-235
A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA
Authors: DUNNILL MGS RICHARDS AJ MILANA G MOLLICA F EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA, Human molecular genetics, 3(9), 1994, pp. 1693-1694
EPIDERMOLYSIS-BULLOSA - HEREDITARY SKIN FRAGILITY DISEASES AS PARADIGMS IN CELL BIOLOGY
Authors: EADY RAJ DUNNILL MGS
Citation: Raj. Eady et Mgs. Dunnill, EPIDERMOLYSIS-BULLOSA - HEREDITARY SKIN FRAGILITY DISEASES AS PARADIGMS IN CELL BIOLOGY, Archives of dermatological research, 287(1), 1994, pp. 2-9
SCLERODERMATOUS SYNDROME AFTER OCCUPATIONAL EXPOSURE TO HERBICIDES - RESPONSE TO SYSTEMIC STEROIDS
Authors: DUNNILL MGS BLACK MM
Citation: Mgs. Dunnill et Mm. Black, SCLERODERMATOUS SYNDROME AFTER OCCUPATIONAL EXPOSURE TO HERBICIDES - RESPONSE TO SYSTEMIC STEROIDS, Clinical and experimental dermatology, 19(6), 1994, pp. 518-520
GENETIC-LINKAGE TO THE TYPE-VII COLLAGEN GENE (COL7A1) IN 26 FAMILIESWITH GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND ANCHORING FIBRIL ABNORMALITIES
Authors: DUNNILL MGS RICHARDS AJ MILANA G MOLLICA F ATHERTON D WINSHIP I FARRALL M ALIMARA L EADY RAJ POPE FM
Citation: Mgs. Dunnill et al., GENETIC-LINKAGE TO THE TYPE-VII COLLAGEN GENE (COL7A1) IN 26 FAMILIESWITH GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND ANCHORING FIBRIL ABNORMALITIES, Journal of Medical Genetics, 31(10), 1994, pp. 745-748
Risultati: 1-25 | 26-30