| Missing Links?: 52 Citation Matrix | Historiographs | Glossary HistCite Guide About |
Nodes: 543,
Authors: 1177,
Journals: 123,
Outer References: 2425,
Words: 1041
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Institution with Subdivision |
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Collection span: 1952 - 2006
| View: Overview | Sorted by GCS. |
Page 1 of 6: [ 1 2 3 4 5 6 ]
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
|---|---|---|---|---|---|
| 1 | 3 | 17 | 65 1985 JOURNAL OF INVESTIGATIVE DERMATOLOGY 84 (5): 374-377 TIDMAN MJ; EADY RAJ EVALUATION OF ANCHORING FIBRILS AND OTHER COMPONENTS OF THE DERMAL-EPIDERMAL JUNCTION IN DYSTROPHIC EPIDERMOLYSIS BULLOSA BY A QUANTITATIVE ULTRASTRUCTURAL TECHNIQUE | 75 | 155 |
| 2 | 3 | 37 | 27 1980 NEW ENGLAND JOURNAL OF MEDICINE 303 (14): 776-781 BAUER EA; COOPER TW; TUCKER DR; ESTERLY NB PHENYTOIN THERAPY OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - CLINICAL-TRIAL AND PROPOSED MECHANISM OF ACTION ON COLLAGENASE | 27 | 145 |
| 3 | 4 | 17 | 72 1986 BRITISH JOURNAL OF DERMATOLOGY 115 (2): 125-131 HEAGERTY AHM; KENNEDY AR; LEIGH IM; PURKIS P; EADY RAJ IDENTIFICATION OF AN EPIDERMAL BASEMENT-MEMBRANE DEFECT IN RECESSIVE FORMS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA BY LH 7-2 MONOCLONAL-ANTIBODY - USE IN DIAGNOSIS | 60 | 125 |
| 4 | 4 | 35 | 243 1993 NATURE GENETICS 4 (1): 62-66 CHRISTIANO AM; GREENSPAN DS; HOFFMAN GG; ZHANG X; TAMAI Y; et al. A MISSENSE MUTATION IN TYPE-VII COLLAGEN IN 2 AFFECTED SIBLINGS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 40 | 117 |
| 5 | 1 | 29 | 18 1978 JOURNAL OF EXPERIMENTAL MEDICINE 148 (5): 1378-1387 BAUER EA; EISEN AZ RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - EVIDENCE FOR INCREASED COLLAGENASE AS A GENETIC CHARACTERISTIC IN CELL-CULTURE | 32 | 114 |
| 6 | 3 | 27 | 139 1991 AMERICAN JOURNAL OF HUMAN GENETICS 49 (4): 797-803 RYYNANEN M; KNOWLTON RG; PARENTE MG; CHUNG LC; CHU ML; et al. HUMAN TYPE-VII COLLAGEN - GENETIC-LINKAGE OF THE GENE (COL7AI) ON CHROMOSOME-3 TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 34 | 97 |
| 7 | 3 | 16 | 99 1988 JOURNAL OF INVESTIGATIVE DERMATOLOGY 90 (5): 639-642 LEIGH IM; EADY RAJ; HEAGERTY AHM; PURKIS PE; WHITEHEAD PA; et al. TYPE-VII COLLAGEN IS A NORMAL COMPONENT OF EPIDERMAL BASEMENT-MEMBRANE, WHICH SHOWS ALTERED EXPRESSION IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 30 | 94 |
| 8 | 6 | 36 | 278 1994 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 91 (9): 3549-3553 CHRISTIANO AM; RYYNANEN M; UITTO J DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA - IDENTIFICATION OF A GLY-]SER SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN | 42 | 85 |
| 9 | 11 | 45 | 229 1993 JOURNAL OF INVESTIGATIVE DERMATOLOGY 100 (4): 366-372 MCGRATH JA; ISHIDAYAMAMOTO A; OGRADY A; LEIGH IM; EADY RAJ STRUCTURAL VARIATIONS IN ANCHORING FIBRILS IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA - CORRELATION WITH TYPE-VII COLLAGEN EXPRESSION | 48 | 80 |
| 10 | 0 | 26 | 16 1977 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 74 (10): 4646-4650 BAUER EA RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - EVIDENCE FOR AN ALTERED COLLAGENASE IN FIBROBLAST-CULTURES | 26 | 79 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 11 | 15 | 46 | 244 1993 NATURE GENETICS 5 (3): 287-293 HILAL L; ROCHAT A; DUQUESNOY P; BLANCHETBARDON C; WECHSLER J; et al. A HOMOZYGOUS INSERTION-DELETION IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN HALLOPEAU-SIEMENS DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 31 | 78 |
| 12 | 5 | 34 | 121 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 93 (1): 3-9 BRUCKNERTUDERMAN L; MITSUHASHI Y; SCHNYDER UW; BRUCKNER P ANCHORING FIBRILS AND TYPE-VII COLLAGEN ARE ABSENT FROM SKIN IN SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 31 | 77 |
| 13 | 8 | 40 | 254 1994 GENOMICS 21 (1): 160-168 CHRISTIANO AM; ANHALT G; GIBBONS S; BAUER EA; UITTO J PREMATURE TERMINATION CODONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE, MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 42 | 77 |
| 14 | 8 | 46 | 177 1992 JOURNAL OF CLINICAL INVESTIGATION 89 (3): 974-980 RYYNANEN M; RYYNANEN J; SOLLBERG S; IOZZO RV; KNOWLTON RG; et al. GENETIC-LINKAGE OF TYPE-VII COLLAGEN (COL7A1) TO DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN FAMILIES WITH ABNORMAL ANCHORING FIBRILS | 26 | 74 |
| 15 | 11 | 37 | 178 1992 JOURNAL OF CLINICAL INVESTIGATION 90 (3): 1032-1036 HOVNANIAN A; DUQUESNOY P; BLANCHETBARDON C; KNOWLTON RG; AMSELEM S; et al. GENETIC-LINKAGE OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA TO THE TYPE-VII COLLAGEN GENE | 35 | 74 |
| 16 | 7 | 29 | 301 1996 AMERICAN JOURNAL OF HUMAN GENETICS 58 (4): 671-681 Christiano AM; McGrath JA; Tan KC; Uitto J Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance | 37 | 63 |
| 17 | 3 | 35 | 25 1980 JOURNAL OF CLINICAL INVESTIGATION 66 (2): 176-187 VALLE KJ; BAUER EA ENHANCED BIOSYNTHESIS OF HUMAN-SKIN COLLAGENASE IN FIBROBLAST-CULTURES FROM RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 14 | 54 |
| 18 | 4 | 16 | 133 1990 JOURNAL OF INVESTIGATIVE DERMATOLOGY 94 (2): 261-264 SMITH LT; SYBERT VP INTRAEPIDERMAL RETENTION OF TYPE-VII COLLAGEN IN A PATIENT WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 16 | 52 |
| 19 | 5 | 18 | 340 1997 HUMAN MUTATION 10 (5): 408-414 Christiano AM; Hoffman GG; Zhang X; Xu YL; Tamai Y; et al. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa | 33 | 52 |
| 20 | 26 | 61 | 329 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61 (3): 599-610 Hovnanian A; Rochat A; Bodemer C; Petit E; Rivers CA; et al. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation | 25 | 51 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 21 | 10 | 30 | 303 1996 AMERICAN JOURNAL OF HUMAN GENETICS 59 (2): 292-300 Gardella R; Belletti L; Zoppi N; Marini D; Barlati S; et al. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa | 21 | 50 |
| 22 | 13 | 46 | 246 1994 AMERICAN JOURNAL OF HUMAN GENETICS 55 (2): 289-296 HOVNANIAN A; HILAL L; BLANCHETBARDON C; DEPROST Y; CHRISTIANO AM; et al. RECURRENT NONSENSE MUTATIONS WITHIN THE TYPE-VII COLLAGEN GENE IN PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 27 | 48 |
| 23 | 2 | 17 | 92 1988 DERMATOLOGICA 176 (2): 57-64 BRUCKNERTUDERMAN L; RUEGGER S; ODERMATT B; MITSUHASHI Y; SCHNYDER UW LACK OF TYPE-VII COLLAGEN IN UNAFFECTED SKIN OF PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 0 | 46 |
| 24 | 13 | 32 | 313 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 106 (1): 119-124 Shimizu H; McGrath JA; Christiano AM; Nishikawa T; Uitto J Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity | 30 | 45 |
| 25 | 28 | 50 | 339 1997 HUMAN MUTATION 10 (5): 338-347 Jarvikallio A; Pulkkinen L; Uitto J Molecular basis of dystrophic epidermolysis bullosa: Mutations is the type VII collagen gene (COL7A1) | 28 | 43 |
| 26 | 3 | 16 | 105 1989 ARCHIVES OF DERMATOLOGY 125 (4): 520-523 FINE JD; HORIGUCHI Y; COUCHMAN JR 19-DEJ-1, A HEMIDESMOSOME-ANCHORING FILAMENT COMPLEX-ASSOCIATED MONOCLONAL-ANTIBODY - DEFINITION OF A NEW SKIN BASEMENT-MEMBRANE ANTIGENIC DEFECT IN JUNCTIONAL AND DYSTROPHIC EPIDERMOLYSIS BULLOSA | 5 | 41 |
| 27 | 4 | 14 | 286 1995 JOURNAL OF INVESTIGATIVE DERMATOLOGY 104 (3): 438-440 CHRISTIANO AM; MORRICONE A; PARADISI M; ANGELO C; MAZZANTI C; et al. A GLYCINE-TO-ARGININE SUBSTITUTION IN THE TRIPLE-HELICAL DOMAIN OF TYPE-VII COLLAGEN IN A FAMILY WITH DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 25 | 41 |
| 28 | 3 | 41 | 33 1982 JOURNAL OF CLINICAL INVESTIGATION 69 (6): 1373-1383 STRICKLIN GP; WELGUS HG; BAUER EA HUMAN-SKIN COLLAGENASE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - PURIFICATION OF A MUTANT ENZYME FROM FIBROBLAST-CULTURES | 11 | 40 |
| 29 | 2 | 18 | 106 1989 ARCHIVES OF DERMATOLOGY 125 (7): 931-938 FINE JD; STENN J; JOHNSON L; WRIGHT T; BOCK HGO; et al. AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX - GENERALIZED PHENOTYPIC FEATURES SUGGESTIVE OF JUNCTIONAL OR DYSTROPHIC EPIDERMOLYSIS BULLOSA, AND ASSOCIATION WITH NEUROMUSCULAR DISEASES | 0 | 37 |
| 30 | 4 | 16 | 120 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 92 (4): 623-627 RUSENKO KW; GAMMON WR; FINE JD; BRIGGAMAN RA THE CARBOXYL-TERMINAL DOMAIN OF TYPE-VII COLLAGEN IS PRESENT AT THE BASEMENT-MEMBRANE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 23 | 35 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 31 | 10 | 30 | 326 1996 MOLECULAR MEDICINE 2 (1): 59-76 Christiano AM; LaForgia S; Paller AS; McGuire J; Shimizu H; et al. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1) | 10 | 35 |
| 32 | 12 | 72 | 408 1999 MATRIX BIOLOGY 18 (1): 43-54 Bruckner-Tuderman L; Hopfner B; Hammami-Hauasli N Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa | 7 | 34 |
| 33 | 2 | 24 | 175 1992 HISTOPATHOLOGY 20 (3): 237-241 SLATER SD; MCGRATH JA; HOBBS C; EADY RAJ; MCKEE PH EXPRESSION OF MUTANT P53 GENE IN SQUAMOUS CARCINOMA ARISING IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 2 | 32 |
| 34 | 10 | 42 | 285 1995 JOURNAL OF CLINICAL INVESTIGATION 95 (3): 1328-1334 CHRISTIANO AM; SUGA Y; GREENSPAN DS; OGAWA H; UITTO J PREMATURE TERMINATION CODONS ON BOTH ALLELES OF THE TYPE-VII COLLAGEN GENE (COL7A1) IN 3 BROTHERS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 20 | 32 |
| 35 | 18 | 36 | 318 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 107 (2): 171-177 Dunnill MGS; McGrath JA; Richards AJ; Christiano AM; Uitto J; et al. Clinicopathological correlations of compound heterozygous COL7A1 mutations recessive dystrophic epidermolysis bullosa | 20 | 31 |
| 36 | 2 | 16 | 40 1983 BRITISH JOURNAL OF DERMATOLOGY 108 (6): 687-694 TAKAMORI K; NAITO K; TANEDA A; OGAWA H INCREASED NEUTRAL PROTEASE AND COLLAGENASE ACTIVITY IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 13 | 30 |
| 37 | 5 | 21 | 129 1990 BRITISH JOURNAL OF DERMATOLOGY 122 (3): 383-390 BRUCKNERTUDERMAN L; NIEMI KM; KERO M; SCHNYDER UW; REUNALA T TYPE-VII COLLAGEN IS EXPRESSED BUT ANCHORING FIBRILS ARE DEFECTIVE IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA INVERSA | 16 | 30 |
| 38 | 0 | 10 | 204 1992 JOURNAL OF MEDICAL GENETICS 29 (6): 381-382 ALIMARA L; RICHARDS AJ; EADY RAJ; LEIGH IM; FARRALL M; et al. LINKAGE OF AUTOSOMAL DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 3 BRITISH FAMILIES TO THE MARKER D3S2 CLOSE TO THE COL7A1 LOCUS | 16 | 30 |
| 39 | 2 | 22 | 22 1979 JOURNAL OF CLINICAL INVESTIGATION 64 (1): 32-39 BAUER EA; FIEHLER WK; ESTERLY NB INCREASED GLYCOSAMINOGLYCAN ACCUMULATION AS A GENETIC CHARACTERISTIC IN CELL-CULTURES OF ONE VARIETY OF DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA | 6 | 29 |
| 40 | 5 | 29 | 201 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 99 (5): 528-530 GRUIS NA; BAVINCK JNB; STEIJLEN PM; VANDERSCHROEFF JG; VANHAERINGEN A; et al. GENETIC-LINKAGE BETWEEN THE COLLAGEN-VII (COL7A1) GENE AND THE AUTOSOMAL DOMINANT FORM OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 2 DUTCH KINDREDS | 12 | 28 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 41 | 13 | 42 | 288 1995 JOURNAL OF INVESTIGATIVE DERMATOLOGY 104 (4): 456-461 HOVNANIAN A; HILAL L; BLANCHETBARDON C; BODEMER C; DEPROST Y; et al. DNA-BASED PRENATAL-DIAGNOSIS OF GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA IN 6 PREGNANCIES AT RISK FOR RECURRENCE | 12 | 27 |
| 42 | 6 | 18 | 351 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 109 (2): 246-249 Mellerio JE; Dunnill MGS; Allison W; Ashton GHS; Christiano AM; et al. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa | 23 | 27 |
| 43 | 3 | 29 | 34 1982 JOURNAL OF INVESTIGATIVE DERMATOLOGY 79: S105-S108 BAUER EA ABNORMALITIES IN COLLAGENASE EXPRESSION AS INVITRO MARKERS FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 0 | 26 |
| 44 | 3 | 20 | 35 1982 JOURNAL OF INVESTIGATIVE DERMATOLOGY 79 (3): 208-211 KRONBERGER A; VALLE KJ; EISEN AZ; BAUER EA ENHANCED CELL-FREE TRANSLATION OF HUMAN-SKIN COLLAGENASE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 5 | 26 |
| 45 | 2 | 7 | 123 1989 LANCET 1 (8644): 966-966 WHITE JE MINOCYCLINE FOR DYSTROPHIC EPIDERMOLYSIS BULLOSA | 2 | 26 |
| 46 | 7 | 45 | 249 1994 BRITISH JOURNAL OF DERMATOLOGY 130 (5): 617-625 MCGRATH JA; SCHOFIELD OMV; EADY RAJ EPIDERMOLYSIS-BULLOSA PRURIGINOSA - DYSTROPHIC EPIDERMOLYSIS-BULLOSA WITH DISTINCTIVE CLINICOPATHOLOGICAL FEATURES | 12 | 26 |
| 47 | 6 | 13 | 255 1994 HUMAN MOLECULAR GENETICS 3 (9): 1693-1694 DUNNILL MGS; RICHARDS AJ; MILANA G; MOLLICA F; EADY RAJ; et al. A NOVEL HOMOZYGOUS POINT MUTATION IN THE COLLAGEN-VII GENE (COL7A1) IN 2 COUSINS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 21 | 26 |
| 48 | 8 | 25 | 317 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 106 (4): 766-770 Christiano AM; McGrath JA; Uitto J Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa | 16 | 26 |
| 49 | 7 | 23 | 345 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 108 (2): 224-228 Kon A; McGrath JA; Pulkkinen L; Nomura K; Nakamura T; et al. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling | 15 | 26 |
| 50 | 3 | 24 | 119 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 92 (4): 611-616 FINE JD; COUCHMAN JR CHONDROITIN 6-SULFATE PROTEOGLYCAN BUT NOT HEPARAN-SULFATE PROTEOGLYCAN IS ABNORMALLY EXPRESSED IN SKIN BASEMENT-MEMBRANE FROM PATIENTS WITH DOMINANT AND RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 4 | 25 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 51 | 2 | 30 | 466 2002 NATURE GENETICS 32 (4): 670-675 Chen M; Kasahara N; Keene DR; Chan L; Hoeffler WK; et al. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa | 7 | 25 |
| 52 | 0 | 13 | 15 1977 JOURNAL OF PEDIATRIC SURGERY 12 (2): 221-226 FONKALSRUD EW; AMENT ME SURGICAL MANAGEMENT OF ESOPHAGEAL STRICTURE DUE TO RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 2 | 24 |
| 53 | 5 | 19 | 52 1984 GASTROENTEROLOGY 87 (6): 1376-1380 FEURLE GE; WEIDAUER H; BALDAUF G; SCHULTEBRAUCKS T; ANTONLAMPRECHT I MANAGEMENT OF ESOPHAGEAL STENOSIS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 7 | 24 |
| 54 | 9 | 34 | 114 1989 JOURNAL OF INVESTIGATIVE DERMATOLOGY 92 (1): 82-85 WINBERG JO; GEDDEDAHL T; BAUER EA COLLAGENASE EXPRESSION IN SKIN FIBROBLASTS FROM FAMILIES WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 17 | 24 |
| 55 | 2 | 30 | 182 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 98 (2): 191-197 KIM YH; WOODLEY DT; WYNN KC; GIOMI W; BAUER EA RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PHENOTYPE IS PRESERVED IN XENOGRAFTS USING SCID MICE - DEVELOPMENT OF AN EXPERIMENTAL INVIVO MODEL | 2 | 24 |
| 56 | 9 | 30 | 300 1995 PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS 107 (2): 245-252 UITTO J; HOVNANIAN A; CHRISTIANO AM PREMATURE TERMINATION CODON MUTATIONS IN THE TYPE-VII COLLAGEN GENE (COL7A1) UNDERLIE SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 14 | 24 |
| 57 | 12 | 40 | 302 1996 AMERICAN JOURNAL OF HUMAN GENETICS 58 (4): 682-693 Christiano AM; AntonLamprecht I; Amano S; Ebschner U; Burgeson RE; et al. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: A recessive paternal deletion insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype | 15 | 24 |
| 58 | 4 | 47 | 333 1997 ARCHIVES OF DERMATOLOGY 133 (9): 1111-1117 Shimizu H; Sato M; Ban M; Kitajima Y; Ishizaki S; et al. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa | 0 | 24 |
| 59 | 15 | 45 | 338 1997 HUMAN MOLECULAR GENETICS 6 (7): 1125-1135 Winberg JO; HammamiHauasli N; Nilssen O; AntonLamprecht I; Naylor SL; et al. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene | 16 | 24 |
| 60 | 4 | 27 | 41 1983 COLLAGEN AND RELATED RESEARCH 3 (2): 115-124 CHURCH RL; BAUER EA; EISEN AZ HUMAN-SKIN COLLAGENASE - ASSIGNMENT OF THE STRUCTURAL GENE TO CHROMOSOME-11 IN BOTH NORMAL AND RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA CELLS USING HUMAN-MOUSE SOMATIC-CELL HYBRIDS | 6 | 23 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 61 | 2 | 22 | 352 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 109 (3): 390-394 Christiano AM; Amano S; Eichenfield LF; Burgeson RE; Uitto J Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein | 9 | 23 |
| 62 | 10 | 36 | 391 1999 JOURNAL OF CELL SCIENCE 112 (21): 3641-3648 Heinonen S; Mannikko M; Klement JF; Whitaker-Menezes D; Murphy GF; et al. Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa | 1 | 23 |
| 63 | 0 | 29 | 127 1990 ARCHIVES OF DERMATOLOGY 126 (1): 78-83 SMOLLER BA; MCNUTT NS; CARTER DM; GOTTLIEB AB; HSU A; et al. RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA SKIN DISPLAYS A CHRONIC GROWTH-ACTIVATED IMMUNOPHENOTYPE - IMPLICATIONS FOR CARCINOGENESIS | 9 | 22 |
| 64 | 3 | 16 | 142 1991 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 174 (2): 1003-1008 SAWAMURA D; SUGAWARA T; HASHIMOTO I; BRUCKNERTUDERMAN L; FUJIMOTO D; et al. INCREASED GENE-EXPRESSION OF MATRIX METALLOPROTEINASE-3 (STROMELYSIN) IN SKIN FIBROBLASTS FROM PATIENTS WITH SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 9 | 22 |
| 65 | 6 | 20 | 350 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 108 (6): 947-949 Lee JYY; Pulkkinen L; Liu HS; Chen YF; Uitto J A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa | 12 | 21 |
| 66 | 11 | 26 | 355 1997 JOURNAL OF INVESTIGATIVE DERMATOLOGY 109 (5): 684-687 Kon A; Nomura K; Pulkkinen L; Sawamura D; Hashimoto I; et al. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic | 12 | 21 |
| 67 | 3 | 26 | 29 1981 ARCHIVES OF DERMATOLOGY 117 (9): 529-530 BAUER EA; COOPER TW THERAPEUTIC CONSIDERATIONS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 5 | 20 |
| 68 | 0 | 5 | 39 1983 BRITISH JOURNAL OF DERMATOLOGY 108 (4): 477-483 WOJNAROWSKA FT; EADY RAJ; WELLS RS DYSTROPHIC EPIDERMOLYSIS BULLOSA PRESENTING WITH CONGENITAL LOCALIZED ABSENCE OF SKIN - REPORT OF 4 CASES | 1 | 20 |
| 69 | 0 | 0 | 10 1974 BRITISH JOURNAL OF PLASTIC SURGERY 27 (2): 176-181 ZAREM HA; PEARSON RW; LEAF N SURGICAL MANAGEMENT OF HAND DEFORMITIES IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 9 | 19 |
| 70 | 3 | 10 | 163 1992 BRITISH JOURNAL OF DERMATOLOGY 126 (3): 222-230 PHILLIPS RJ; HARPER JI; LAKE BD INTRAEPIDERMAL COLLAGEN TYPE-VII IN DYSTROPHIC EPIDERMOLYSIS-BULLOSA - REPORT OF 5 NEW CASES | 3 | 19 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 71 | 8 | 23 | 316 1996 JOURNAL OF INVESTIGATIVE DERMATOLOGY 106 (4): 679-684 Christiano AM; DAlessio M; Paradisi M; Angelo C; Mazzanti C; et al. A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa | 14 | 19 |
| 72 | 4 | 22 | 149 1991 DERMATOLOGICA 182 (4): 235-238 MCGRATH JA; SCHOFIELD OMV; MAYOU BJ; MCKEE PH; EADY RAJ METASTATIC SQUAMOUS-CELL CARCINOMA RESEMBLING ANGIOSARCOMA COMPLICATING DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 7 | 18 |
| 73 | 6 | 30 | 152 1991 JOURNAL OF INVESTIGATIVE DERMATOLOGY 96 (4): 452-458 BRUCKNERTUDERMAN L; GUSCETTI F; EHRENSPERGER F ANIMAL-MODEL FOR DERMOLYTIC MECHANOBULLOUS DISEASE - SHEEP WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA LACK COLLAGEN-VII | 3 | 18 |
| 74 | 24 | 68 | 358 1998 AMERICAN JOURNAL OF HUMAN GENETICS 63 (3): 737-748 Sakuntabhai A; Hammami-Hauasli N; Bodemer C; Rochat A; Prost C; et al. Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa | 6 | 18 |
| 75 | 1 | 31 | 49 1984 BRITISH JOURNAL OF DERMATOLOGY 111 (4): 379-387 TIDMAN MJ; EADY RAJ EVIDENCE FOR A FUNCTIONAL DEFECT OF THE LAMINA LUCIDA IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA DEMONSTRATED BY SUCTION BLISTERS | 6 | 17 |
| 76 | 15 | 44 | 150 1991 JOURNAL OF CLINICAL INVESTIGATION 88 (5): 1716-1721 HOVNANIAN A; DUQUESNOY P; AMSELEM S; BLANCHETBARDON C; LATHROP M; et al. EXCLUSION OF LINKAGE BETWEEN THE COLLAGENASE GENE AND GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA PHENOTYPE | 6 | 17 |
| 77 | 4 | 45 | 420 2000 JOURNAL OF BIOLOGICAL CHEMISTRY 275 (32): 24429-24435 Chen M; O'Toole EA; Muellenhoff M; Medina E; Kasahara N; et al. Development and characterization of a recombinant truncated type VII collagen "minigene" - Implication for gene therapy of dystrophic epidermolysis bullosa | 2 | 17 |
| 78 | 0 | 10 | 32 1982 DERMATOLOGICA 165 (1): 39-46 CARAPETO FJ; PASTOR JA; MARTIN J; AGURRUZA J RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA AND MULTIPLE SQUAMOUS-CELL CARCINOMAS | 5 | 16 |
| 79 | 2 | 15 | 59 1985 BRITISH JOURNAL OF DERMATOLOGY 112 (5): 533-538 TAKAMORI K; IKEDA S; NAITO K; OGAWA H PROTEASES ARE RESPONSIBLE FOR BLISTER FORMATION IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA AND EPIDERMOLYSIS BULLOSA SIMPLEX | 4 | 16 |
| 80 | 2 | 20 | 134 1990 JOURNAL OF INVESTIGATIVE DERMATOLOGY 95 (1): 60-64 NAZZARO V; BERTI E; CERRI A; BRUSASCO A; CAVALLI R; et al. EXPRESSION OF INTEGRINS IN JUNCTIONAL AND DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 0 | 16 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 81 | 9 | 28 | 164 1992 BRITISH JOURNAL OF DERMATOLOGY 127 (4): 312-317 MCGRATH JA; LEIGH IM; EADY RAJ INTRACELLULAR EXPRESSION OF TYPE-VII COLLAGEN DURING WOUND-HEALING IN SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND NORMAL HUMAN SKIN | 5 | 16 |
| 82 | 5 | 11 | 205 1992 NEW ENGLAND JOURNAL OF MEDICINE 327 (3): 163-167 CALDWELLBROWN D; STERN RS; LIN AN; CARTER DM LACK OF EFFICACY OF PHENYTOIN IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 5 | 16 |
| 83 | 3 | 32 | 209 1993 ANAESTHESIA 48 (9): 810-815 GRIFFIN RP; MAYOU BJ THE ANESTHETIC MANAGEMENT OF PATIENTS WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA - A REVIEW OF 44 PATIENTS OVER A 10-YEAR PERIOD | 8 | 16 |
| 84 | 22 | 60 | 211 1993 ARCHIVES OF DERMATOLOGY 129 (12): 1566-1570 HOVNANIAN A; CHRISTIANO AM; VITTO J MOLECULAR-GENETICS OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 5 | 16 |
| 85 | 13 | 32 | 277 1994 JOURNAL OF MEDICAL GENETICS 31 (10): 745-748 DUNNILL MGS; RICHARDS AJ; MILANA G; MOLLICA F; ATHERTON D; et al. GENETIC-LINKAGE TO THE TYPE-VII COLLAGEN GENE (COL7A1) IN 26 FAMILIES WITH GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA AND ANCHORING FIBRIL ABNORMALITIES | 12 | 16 |
| 86 | 4 | 29 | 305 1996 BRITISH JOURNAL OF DERMATOLOGY 134 (5): 872-879 Haynes L; Atherton DJ; AdeAjayi N; Wheeler R; Kiely EM Gastrostomy and growth in dystrophic epidermolysis bullosa | 6 | 16 |
| 87 | 4 | 30 | 481 2003 HUMAN MOLECULAR GENETICS 12 (15): 1897-1905 Baldeschi C; Gache Y; Rattenholl A; Bouille P; Danos O; et al. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors | 3 | 16 |
| 88 | 1 | 13 | 13 1977 BRITISH JOURNAL OF DERMATOLOGY 96 (4): 389-392 SEHGAL VN; REGE VL; GHOSH SK; KAMAT SM DYSTROPHIC EPIDERMOLYSIS BULLOSA - INTERESTING GASTROINTESTINAL MANIFESTATIONS | 2 | 15 |
| 89 | 0 | 0 | 46 1983 ZEITSCHRIFT FUR HAUTKRANKHEITEN H&G 58 (8): 555-& WIRTH H; NESCH A; OSTAPOWICZ B; ANTONLAMPRECHT I PHENYTOIN THERAPY OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA (EPIDERMOLYSIS BULLOSA DYSTROPHICA HALLOPEAU-SIEMENS AND EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA) | 10 | 15 |
| 90 | 8 | 24 | 84 1988 ARCHIVES OF DERMATOLOGY 124 (5): 734-736 BAUER EA; TABAS M A PERSPECTIVE ON THE ROLE OF COLLAGENASE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 5 | 15 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 91 | 7 | 16 | 241 1993 JOURNAL OF INVESTIGATIVE DERMATOLOGY 101 (2): 232-236 FINE JD; JOHNSON LB; CRONCE D; WRIGHT JT; LEIGH IM; et al. INTRACYTOPLASMIC RETENTION OF TYPE-VII COLLAGEN AND DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA - REVERSAL OF DEFECT FOLLOWING CESSATION OF OR MARKED IMPROVEMENT IN DISEASE-ACTIVITY | 2 | 15 |
| 92 | 12 | 64 | 242 1993 JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 29 (3): 407-419 MCGRATH JA; SCHOFIELD OMV; ISHIDAYAMAMOTO A; OGRADY A; MAYOU BJ; et al. CULTURED KERATINOCYTE ALLOGRAFTS AND WOUND-HEALING IN SEVERE RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 5 | 15 |
| 93 | 6 | 41 | 256 1994 JOURNAL OF INVESTIGATIVE DERMATOLOGY 102 (1): 105-110 KONIG A; RAGHUNATH M; STEINMANN B; BRUCKNERTUDERMAN L INTRACELLULAR ACCUMULATION OF COLLAGEN-VII IN CULTURED KERATINOCYTES FROM A PATIENT WITH DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 2 | 15 |
| 94 | 13 | 28 | 356 1997 LABORATORY INVESTIGATION 76 (2): 209-217 Tamai K; IshidaAmamoto A; Matsuo S; Lizuka H; Hashimoto I; et al. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa | 11 | 15 |
| 95 | 5 | 22 | 364 1998 BRITISH JOURNAL OF PLASTIC SURGERY 51 (8): 608-613 Eisenberg M; Llewelyn D Surgical management of hands in children with recessive dystrophic epidermolysis bullosa: use of allogeneic composite cultured skin grafts | 3 | 15 |
| 96 | 12 | 34 | 372 1998 JOURNAL OF INVESTIGATIVE DERMATOLOGY 111 (5): 744-750 Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; et al. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa | 9 | 15 |
| 97 | 9 | 21 | 373 1998 JOURNAL OF INVESTIGATIVE DERMATOLOGY 111 (6): 1210-1213 Rouan F; Pulkkinen L; Jonkman MF; Bauer JW; Cserhalmi-Friedman PB; et al. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for genetic counseling | 10 | 15 |
| 98 | 6 | 17 | 385 1999 EXPERIMENTAL DERMATOLOGY 8 (2): 140-142 Hashimoto I; Kon A; Tamai K; Uitto J Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? | 5 | 15 |
| 99 | 3 | 22 | 37 1983 ANAESTHESIA 38 (5): 485-491 TOMLINSON AA RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - THE ANESTHETIC MANAGEMENT OF A CASE FOR MAJOR SURGERY | 5 | 14 |
| 100 | 9 | 26 | 128 1990 ARCHIVES OF DERMATOLOGY 126 (12): 1587-1593 FINE JD; JOHNSON LB; WRIGHT T TYPE-VII COLLAGEN AND 19-DEJ-1 ANTIGEN - COMPARISON OF EXPRESSION IN INVERSA AND GENERALIZED VARIANTS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 6 | 14 |
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