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Results: 51-75/118
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
MUTATIONS IN THE PLECTIN GENE CAUSE EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY
Authors: MCLEAN WHI PULKKINEN L SMITH FJD RUGG EL BULLRICH F BURGESON RE AMANO S HUDSON DL OWARIBE K MCGRATH JA EADY RAJ LEIGH IM LANE EB CHRISTIANO AM UITTO J
Citation: Whi. Mclean et al., MUTATIONS IN THE PLECTIN GENE CAUSE EPIDERMOLYSIS-BULLOSA WITH MUSCULAR-DYSTROPHY, Journal of investigative dermatology, 107(1), 1996, pp. 144-144
COMPOUND HETEROZYGOSITY FOR NONSENSE AND MISSENSE MUTATIONS IN THE LAMB3 GENE IN NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA (VOL 106, PG 775, 1996)
Authors: MCGRATH JA CHRISTIANO AM PULKKINEN L EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., COMPOUND HETEROZYGOSITY FOR NONSENSE AND MISSENSE MUTATIONS IN THE LAMB3 GENE IN NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA (VOL 106, PG 775, 1996), Journal of investigative dermatology, 106(5), 1996, pp. 1156-1159
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
CLONING AND SEQUENCING OF THE HUMAN PLECTIN GENE
Authors: MCLEAN WHI SMITH FJD RUGG EL STOREY A LEIGH IM EADY RAJ PULKKINEN L UITTO J LANE EB
Citation: Whi. Mclean et al., CLONING AND SEQUENCING OF THE HUMAN PLECTIN GENE, Journal of investigative dermatology, 106(4), 1996, pp. 223-223
ANALYSIS OF CORNIFIED CELL-ENVELOPE FORMATION BY CONFOCAL LASER-SCANNING MICROSCOPY AND IMMUNOELECTRON MICROSCOPY
Authors: ISHIDAYAMAMOTO A EADY RAJ WATT FM ROOP DR HOHL D IIZUKA H
Citation: A. Ishidayamamoto et al., ANALYSIS OF CORNIFIED CELL-ENVELOPE FORMATION BY CONFOCAL LASER-SCANNING MICROSCOPY AND IMMUNOELECTRON MICROSCOPY, Journal of investigative dermatology, 106(4), 1996, pp. 353-353
COMPOUND HETEROZYGOSITY FOR NONSENSE AND MISSENSE MUTATIONS IN THE LAMB3 GENE IN NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA
Authors: CHRISTIANO AM PULKKINEN L EADY RAJ UITTO J
Citation: Am. Christiano et al., COMPOUND HETEROZYGOSITY FOR NONSENSE AND MISSENSE MUTATIONS IN THE LAMB3 GENE IN NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 106(4), 1996, pp. 775-777
IMMUNOELECTRON MICROSCOPIC ANALYSIS OF CORNIFIED CELL-ENVELOPE FORMATION IN NORMAL AND PSORIATIC EPIDERMIS
Authors: ISHIDAYAMAMOTO A EADY RAJ WATT FM ROOP DR HOHL D IIZUKA H
Citation: A. Ishidayamamoto et al., IMMUNOELECTRON MICROSCOPIC ANALYSIS OF CORNIFIED CELL-ENVELOPE FORMATION IN NORMAL AND PSORIATIC EPIDERMIS, The Journal of histochemistry and cytochemistry, 44(2), 1996, pp. 167-175
GENE TARGETING AT THE MOUSE CYTOKERATIN-10 LOCUS - SEVERE SKIN FRAGILITY AND CHANGES OF CYTOKERATIN EXPRESSION IN THE EPIDERMIS
Authors: PORTER RM LEITGEB S MELTON DW SWENSSON O EADY RAJ MAGIN TM
Citation: Rm. Porter et al., GENE TARGETING AT THE MOUSE CYTOKERATIN-10 LOCUS - SEVERE SKIN FRAGILITY AND CHANGES OF CYTOKERATIN EXPRESSION IN THE EPIDERMIS, The Journal of cell biology, 132(5), 1996, pp. 925-936
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
KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA
Authors: MCLEAN WHI RUGG EL LUNNY DP MORLEY SM LANE EB SWENSSON O DOPPINGHEPENSTAL PJC GRIFFITHS WAD EADY RAJ HIGGINS C NAVSARIA HA LEIGH IM STRACHAN T KUNKELER L MUNRO CS
Citation: Whi. Mclean et al., KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA, Nature genetics, 9(3), 1995, pp. 273-278
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
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
ALTERED DISTRIBUTION OF KERATINIZATION MARKERS IN EPIDERMOLYTIC HYPERKERATOSIS
Authors: ISHIDAYAMAMOTO A IIZUKA H MANABE M OGUIN WM HOHL D KARTASOVA T KUROKI T ROOP DR EADY RAJ
Citation: A. Ishidayamamoto et al., ALTERED DISTRIBUTION OF KERATINIZATION MARKERS IN EPIDERMOLYTIC HYPERKERATOSIS, Archives of dermatological research, 287(8), 1995, pp. 705-711
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
THE USE OF MICHELS TRANSPORT MEDIUM FOR IMMUNOFLUORESCENCE AND IMMUNOELECTRON MICROSCOPY IN AUTOIMMUNE BULLOUS DISEASES
Authors: JONES SAV PALMER I BHOGAL BS EADY RAJ BLACK MM
Citation: Sav. Jones et al., THE USE OF MICHELS TRANSPORT MEDIUM FOR IMMUNOFLUORESCENCE AND IMMUNOELECTRON MICROSCOPY IN AUTOIMMUNE BULLOUS DISEASES, Journal of cutaneous pathology, 22(4), 1995, pp. 365-370
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
MUTATIONS IN THE 180-KD BULLOUS PEMPHIGOID ANTIGEN GENE (BPAG2 COL17A1) UNDERLIE GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA/
Authors: MCGRATH JA CHRISTIANO AM GATALICA B OWARIBE K MCMILLAN JR EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., MUTATIONS IN THE 180-KD BULLOUS PEMPHIGOID ANTIGEN GENE (BPAG2 COL17A1) UNDERLIE GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA/, Journal of investigative dermatology, 105(3), 1995, pp. 449-449
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
PACHYONYCHIA-CONGENITA IS CAUSED BY MUTATIONS IN KERATIN-16 AND KERATIN-17
Authors: MCLEAN WHI SMITH FJD CORDEN L RUGG EL LUNNY DP MORLEY SM SWENSSON O DOPPINGHEPENSTAL PJC GRIFFITHS WAD EADY RAJ RATNAVEL R HIGGINS C NAVSARIA H LEIGH IM MOSS C MCKENNA KE BINGHAM EA KUNKELER L MUNRO CS LANE EB
Citation: Whi. Mclean et al., PACHYONYCHIA-CONGENITA IS CAUSED BY MUTATIONS IN KERATIN-16 AND KERATIN-17, Journal of investigative dermatology, 105(3), 1995, pp. 454-454
PHENOTYPIC CHARACTERISTICS OF TRANSGENIC MICE HETEROZYGOUS AND HOMOZYGOUS FOR A TRUNCATED KERATIN-10 GENE
Authors: SWENSSON O GRATIAN M PORTER RM LEITGEB S MELTON DW MAGIN TM EADY RAJ
Citation: O. Swensson et al., PHENOTYPIC CHARACTERISTICS OF TRANSGENIC MICE HETEROZYGOUS AND HOMOZYGOUS FOR A TRUNCATED KERATIN-10 GENE, Journal of investigative dermatology, 105(3), 1995, pp. 461-461
ALTERED LAMININ-5 EXPRESSION DUE TO MUTATIONS IN THE GENE ENCODING THE BETA-3 CHAIN (LAMB3) IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA
Authors: MCGRATH JA PULKKINEN L CHRISTIANO AM LEIGH IM EADY RAJ UITTO J
Citation: Ja. Mcgrath et al., ALTERED LAMININ-5 EXPRESSION DUE TO MUTATIONS IN THE GENE ENCODING THE BETA-3 CHAIN (LAMB3) IN GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS-BULLOSA, Journal of investigative dermatology, 104(4), 1995, pp. 467-474
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