| Missing Links?: 52 Citation Matrix | Historiographs | Glossary HistCite Guide About |
Nodes: 543,
Authors: 1177,
Journals: 123,
Outer References: 2425,
Words: 1041
Yearly output |
Document Type |
Language |
Institution |
Institution with Subdivision |
Country
Collection span: 1952 - 2006
| View: Overview | Sorted by LCR. |
Page 1 of 6: [ 1 2 3 4 5 6 ]
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
|---|---|---|---|---|---|
| 1 | 34 | 50 | 476 2003 BRITISH JOURNAL OF DERMATOLOGY 149 (4): 810-818 Mallipeddi R; Bleck O; Mellerio JE; Ashton GHS; Eady RAJ; et al. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa | 1 | 4 |
| 2 | 28 | 106 | 283 1995 CLINICAL AND EXPERIMENTAL DERMATOLOGY 20 (3): 179-188 DUNNILL MGS; EADY RAJ THE MANAGEMENT OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 5 | 9 |
| 3 | 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 |
| 4 | 28 | 45 | 384 1999 EXPERIMENTAL DERMATOLOGY 8 (1): 22-29 Mellerio JE; Salas-alanis JC; Amaya-Guerra M; Tamez E; Ashton GHS; et al. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa | 1 | 1 |
| 5 | 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 |
| 6 | 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 |
| 7 | 23 | 33 | 419 2000 INTERNATIONAL JOURNAL OF DERMATOLOGY 39 (6): 436-442 Salas-Alanis JC; Amaya-Guerra M; McGrath JA The molecular basis of dystrophic epidermolysis bullosa in Mexico | 3 | 6 |
| 8 | 23 | 41 | 464 2002 JOURNAL OF INVESTIGATIVE DERMATOLOGY 119 (6): 1456-1462 Gardella R; Castiglia D; Posteraro P; Bernardini S; Zoppi N; et al. Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa | 3 | 4 |
| 9 | 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 |
| 10 | 22 | 44 | 363 1998 BRITISH JOURNAL OF DERMATOLOGY 139 (4): 730-737 Mellerio JE; Salas-Alanis JC; Talamantes ML; Horn H; Tidman MJ; et al. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa | 9 | 9 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 11 | 22 | 34 | 432 2001 BRITISH JOURNAL OF DERMATOLOGY 144 (1): 151-157 Nordal EJ; Mecklenbeck S; Hausser I; Skranes J; Bruckner-Tuderman L; et al. Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets | 2 | 2 |
| 12 | 21 | 40 | 390 1999 HUMAN MUTATION 13 (6): 439-452 Gardella R; Zoppi N; Ferraboli S; Marini D; Tadini G; et al. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts | 6 | 8 |
| 13 | 20 | 52 | 341 1997 INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY 29 (1): 261-270 Talas G; Adams TST; Eastwood M; Rubio G; Brown RA Phenytoin reduces the contraction of recessive dystrophic epidermolysis bullosa fibroblast populated collagen gels | 1 | 9 |
| 14 | 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 |
| 15 | 18 | 35 | 362 1998 BRITISH JOURNAL OF DERMATOLOGY 138 (5): 852-858 Salas-Alanis JC; Mellerio JE; Amaya-Guerra M; Ashton GHS; Eady RAJ; et al. Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa | 5 | 8 |
| 16 | 18 | 29 | 425 2000 JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION 99 (9): 693-697 Lin GT; Chen SK; Liu CS; Wang WH Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa | 0 | 0 |
| 17 | 18 | 42 | 519 2005 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 338 (3): 1391-1401 Posteraro P; Pascucci M; Colombi M; Barlati S; Giannetti A; et al. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa | 0 | 0 |
| 18 | 16 | 22 | 496 2004 ARCHIVES OF DERMATOLOGICAL RESEARCH 295 (10): 442-447 Murata T; Masunaga T; Ishiko A; Shimizu H; Nishikawa T Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations | 1 | 1 |
| 19 | 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 |
| 20 | 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 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 21 | 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 |
| 22 | 15 | 23 | 503 2004 JOURNAL OF DERMATOLOGICAL SCIENCE 34 (3): 195-200 Nakamura H; Sawamura D; Goto M; Sato-Matsumura KC; LaDuca J; et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa | 0 | 0 |
| 23 | 15 | 20 | 527 2005 JOURNAL OF HUMAN GENETICS 50 (10): 543-546 Sawamura D; Goto M; Yasukawa K; Sato-Matsumura K; Nakamura H; et al. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa | 0 | 0 |
| 24 | 14 | 36 | 251 1994 EUROPEAN JOURNAL OF DERMATOLOGY 4 (6): 463-470 WINBERG JO; ANTONLAMPRECHT I; KONIG A; BRUCKNERTUDERMAN L; NILSSEN O; et al. BIOCHEMICAL, MOLECULAR AND ULTRASTRUCTURAL HETEROGENEITY IN SEVERE MUTILATING RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 0 | 4 |
| 25 | 14 | 28 | 412 2000 ARCHIVES OF DERMATOLOGICAL RESEARCH 292 (4): 159-163 Lee JYY; Li C; Chao SC; Pulkkinen L; Uitto J A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa | 2 | 4 |
| 26 | 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 |
| 27 | 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 |
| 28 | 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 |
| 29 | 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 |
| 30 | 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 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 31 | 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 |
| 32 | 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 |
| 33 | 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 |
| 34 | 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 |
| 35 | 12 | 19 | 524 2005 CLINICAL AND EXPERIMENTAL DERMATOLOGY 30 (3): 289-293 Masse M; Cserhalmi-Friedman PB; Falanga V; Celebi JT; Martinez-Mir A; et al. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa | 0 | 0 |
| 36 | 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 |
| 37 | 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 |
| 38 | 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 |
| 39 | 11 | 22 | 428 2000 PRENATAL DIAGNOSIS 20 (8): 618-622 Klingberg S; Mortimore R; Parkes J; Chick JED; Clague AE; et al. Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis | 0 | 2 |
| 40 | 11 | 13 | 434 2001 CLINICAL AND EXPERIMENTAL DERMATOLOGY 26 (1): 97-99 Wessagowit V; Ashton GHS; Mohammedi R; Salas-Alanis JC; Denyer JE; et al. Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1 | 4 | 4 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 41 | 11 | 28 | 439 2001 JOURNAL OF DERMATOLOGICAL SCIENCE 26 (2): 125-132 Ryoo YW; Kim BC; Lee KS Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients | 0 | 1 |
| 42 | 11 | 27 | 454 2002 BRITISH JOURNAL OF DERMATOLOGY 147 (3): 450-457 Gardella R; Zoppi N; Zambruno G; Barlati S; Colombi M Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene | 5 | 5 |
| 43 | 11 | 24 | 489 2003 PEDIATRIC DERMATOLOGY 20 (3): 243-248 Kahofer P; Bruckner-Tuderman L; Metze D; Lemmink H; Scheffer H; et al. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein | 0 | 0 |
| 44 | 11 | 24 | 498 2004 CLINICAL AND EXPERIMENTAL DERMATOLOGY 29 (2): 128-132 De Benedittis M; Petruzzi M; Favia G; Serpico R Oro-dental manifestations in Hallopeau-Siemens-type recessive dystrophic epidermolysis bullosa | 0 | 0 |
| 45 | 11 | 28 | 522 2005 BRITISH JOURNAL OF DERMATOLOGY 152 (5): 879-886 Csikos M; Szocs HI; Laszik A; Mecklenbeck S; Horvath A; et al. High frequency of the 425A -> G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa | 0 | 0 |
| 46 | 10 | 37 | 181 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 98 (2): 141-146 BRUCKNERTUDERMAN L; RANTALA I; REUNALA T EVIDENCE FOR A STRUCTURAL ABNORMALITY OF COLLAGEN-VII IN A PATIENT WITH DYSTROPHIC EPIDERMOLYSIS-BULLOSA INVERSA | 0 | 14 |
| 47 | 10 | 39 | 202 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 99 (5): 550-558 BRUCKNERTUDERMAN L; WINBERG JO; ANTONLAMPRECHT I; SCHNYDER UW; GEDDEDAHL T ANCHORING FIBRILS, COLLAGEN-VII, AND NEUTRAL METALLOPROTEASES IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA-INVERSA | 7 | 11 |
| 48 | 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 |
| 49 | 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 |
| 50 | 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 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 51 | 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 |
| 52 | 10 | 16 | 416 2000 EUROPEAN JOURNAL OF DERMATOLOGY 10 (6): 436-438 Vaccaro M; Moretti G; Guarneri F; Cannavo S; Magaudda L "Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? | 0 | 0 |
| 53 | 9 | 38 | 56 1985 ANNALS OF THE NEW YORK ACADEMY OF SCIENCES 460: 311-320 BAUER EA COLLAGENASE IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 0 | 2 |
| 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 | 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 |
| 56 | 9 | 35 | 132 1990 HAUTARZT 41 (9): 494-498 OTTE HG; STIELER W; ANTONLAMPRECHT I SQUAMOUS-CELL CARCINOMAS IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA HALLOPEAU-SIEMENS | 0 | 1 |
| 57 | 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 |
| 58 | 9 | 30 | 212 1993 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 193 (2): 604-610 IWASAKI T; LAPIERE JC; UITTO J; KIM YH; WOODLEY DT RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA KERATINOCYTES SYNTHESIZE TYPE-VII COLLAGEN ALPHA-CHAINS OF NORMAL MOLECULAR-SIZE BUT THE ANCHORING FIBRIL ASSEMBLY IS IMPAIRED | 0 | 7 |
| 59 | 9 | 37 | 228 1993 JOURNAL OF INVESTIGATIVE DERMATOLOGY 100 (1): 93-96 JENISON M; FINE JD; GAMMON WR; OKEEFE EJ NORMAL MOLECULAR-WEIGHT OF TYPE-VII COLLAGEN PRODUCED BY RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA KERATINOCYTES | 1 | 2 |
| 60 | 9 | 36 | 257 1994 JOURNAL OF INVESTIGATIVE DERMATOLOGY 102 (2): 155-159 KONIG A; WINBERG JO; GEDDEDAHL T; BRUCKNERTUDERMAN L HETEROGENEITY OF SEVERE DYSTROPHIC EPIDERMOLYSIS-BULLOSA - OVEREXPRESSION OF COLLAGEN-VII BY CUTANEOUS CELLS FROM A PATIENT WITH MUTILATING DISEASE | 2 | 10 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 61 | 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 |
| 62 | 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 |
| 63 | 9 | 10 | 382 1999 CLINICAL AND EXPERIMENTAL DERMATOLOGY 24 (3): 232-235 Ashton GHS; Mellerio JE; Dunnill MGS; Milana G; Mayou BJ; et al. Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosa | 5 | 5 |
| 64 | 9 | 14 | 392 1999 JOURNAL OF INVESTIGATIVE DERMATOLOGY 112 (3): 398-400 Mecklenbeck S; Hammami-Hauasli N; Hopfner B; Schumann H; Kramer A; et al. Clustering of COL7A1 mutations in exon 73: Implications for mutation analysis in dystrophic epidermolysis bullosa | 7 | 9 |
| 65 | 9 | 12 | 421 2000 JOURNAL OF INVESTIGATIVE DERMATOLOGY 114 (1): 204-205 Masunaga T; Shimizu H; Takizawa Y; Uitto J; Nishikawa T Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa | 3 | 4 |
| 66 | 9 | 10 | 484 2003 JOURNAL OF DERMATOLOGICAL SCIENCE 33 (3): 180-183 Kim J; Kim SC; Yasukawa K; Shimizu H Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa | 0 | 0 |
| 67 | 9 | 59 | 539 2005 OSTOMY WOUND MANAGEMENT 51 (11): 22-+ Sibbald RG; Zucker R; Coutts P; Coelho S; Williamson D; et al. Using a dermal skin substitute in the treatment of chronic wounds secondary to recessive dystrophic epidermolysis bullosa: A case series | 0 | 0 |
| 68 | 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 |
| 69 | 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 |
| 70 | 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 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 71 | 8 | 31 | 280 1995 ARCHIVES OF DERMATOLOGICAL RESEARCH 287 (5): 428-433 SATO T; NOMURA K; HASHIMOTO I EXPRESSION OF COLLAGENASE AND STROMELYSIN IN SKIN FIBROBLASTS FROM RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 0 | 1 |
| 72 | 8 | 11 | 297 1995 JOURNAL OF MEDICAL GENETICS 32 (9): 749-750 DUNNILL MGS; RODECK CH; RICHARDS AJ; ATHERTON D; LAKE BD; et al. USE OF TYPE-VII COLLAGEN GENE (COL7A1) MARKERS IN PRENATAL-DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 3 | 5 |
| 73 | 8 | 29 | 307 1996 DERMATOLOGY 192 (3): 203-207 Shimizu H; Suzumori K; Nishikawa T Heterogeneous reactivity with LH7.2 and the first prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa among Japanese patients | 1 | 8 |
| 74 | 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 |
| 75 | 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 |
| 76 | 8 | 17 | 327 1997 ACTA DERMATO-VENEREOLOGICA 77 (4): 277-280 Nomura K; Umeki E; Sawamura D; Hashimoto I Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini - Ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family | 0 | 0 |
| 77 | 8 | 24 | 375 1998 MOLECULAR MEDICINE 4 (3): 191-195 Arbiser JL; Fine JD; Murrell D; Paller A; Connors S; et al. Basic fibroblast growth factor: A missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa | 2 | 14 |
| 78 | 8 | 27 | 389 1999 HAUTARZT 50 (2): 121-126 Bauer JW; Ortiz S; Hengstschlager M; Pulkkinen L; Uitto J; et al. Prenatal diagnosis of recessive dystrophic epidermolysis bullosa in a family at risk for recurrence by haplotype analysis of the type VII collagen gene | 0 | 1 |
| 79 | 8 | 14 | 418 2000 INTERNATIONAL JOURNAL OF DERMATOLOGY 39 (2): 151-153 Gunduz K; Vatansever S; Turel A; Sen S Recessive dystrophic epidermolysis bullosa complicated with nephrotic syndrome due to secondary amyloidosis | 1 | 1 |
| 80 | 7 | 15 | 131 1990 DERMATOLOGICA 181 (2): 145-148 ALTOMARE GF; POLENGHI M; PIGATTO PD; NAZZARO V; PIATTONI F DYSTROPHIC EPIDERMOLYSIS-BULLOSA-INVERSA - A CASE-REPORT | 2 | 2 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 81 | 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 |
| 82 | 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 |
| 83 | 7 | 40 | 253 1994 EXPERIMENTAL CELL RESEARCH 211 (2): 212-218 UNEMORI EN; MAUCH C; HOEFFLER W; KIM Y; AMENTO EP; et al. CONSTITUTIVE ACTIVATION OF THE COLLAGENASE PROMOTER IN RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA FIBROBLASTS - ROLE OF ENDOGENOUSLY ACTIVATED AP-1 | 1 | 7 |
| 84 | 7 | 13 | 298 1995 JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 33 (2): 361-365 LIN AN; SMITH LT; FINE JD DYSTROPHIC EPIDERMOLYSIS-BULLOSA INVERSA - REPORT OF 2 CASES WITH FURTHER CORRELATION BETWEEN ELECTRON-MICROSCOPIC AND IMMUNOFLUORESCENCE STUDIES | 1 | 2 |
| 85 | 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 |
| 86 | 7 | 24 | 304 1996 BRITISH JOURNAL OF DERMATOLOGY 134 (4): 734-739 McGrath JA; Dunnill MGS; Christiano AM; Lake BD; Atherton DJ; et al. First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling | 4 | 9 |
| 87 | 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 |
| 88 | 7 | 20 | 387 1999 EXPERIMENTAL DERMATOLOGY 8 (2): 146-152 Christiano AM; Crollick J; Pincus S; Uitto J Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study | 2 | 4 |
| 89 | 7 | 15 | 413 2000 ARCHIVES OF DERMATOLOGICAL RESEARCH 292 (10): 477-481 Murata T; Masunaga T; Shimizu H; Takizawa Y; Ishiko A; et al. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa | 2 | 3 |
| 90 | 7 | 11 | 455 2002 CLINICAL AND EXPERIMENTAL DERMATOLOGY 27 (1): 56-58 Matsuba S; Suga Y; Mayuzumi N; Ikeda S; Ogawa H A Japanese case of de novo dominant dystrophic epidermolysis bullosa | 1 | 1 |
| # | LCR | NCR | Node / Date / Journal / Author | LCS | GCS |
| 91 | 7 | 40 | 458 2002 JOURNAL OF BIOLOGICAL CHEMISTRY 277 (3): 2118-2124 Chen M; Costa FK; Lindvay CR; Han YP; Woodley DT The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa | 4 | 13 |
| 92 | 7 | 16 | 477 2003 CLINICAL AND EXPERIMENTAL DERMATOLOGY 28 (1): 80-84 Horev L; Waran Lalin T; Martinez-Mir A; Bagheri BA; Tadin-Strapps M; et al. Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency | 1 | 1 |
| 93 | 7 | 11 | 479 2003 CLINICAL AND EXPERIMENTAL DERMATOLOGY 28 (4): 437-439 Zhang XJ; Song YX; Zhang XQ; Yang S; Li M; et al. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa | 0 | 0 |
| 94 | 7 | 15 | 541 2006 INTERNATIONAL JOURNAL OF DERMATOLOGY 45 (3): 302-305 Shibusawa Y; Negishi I; Ishikawa O Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype | 0 | 0 |
| 95 | 6 | 27 | 67 1985 LARYNGOLOGIE RHINOLOGIE OTOLOGIE VEREINIGT MIT MONATSSCHRIFT FUR OHRENHEILKUNDE 64 (10): 522-526 WEIDAUER H; FEURLE GE; BALDAUF G; ANTONLAMPRECHT I CONSERVATIVE TREATMENT OF ESOPHAGEAL STRICTURES IN PATIENTS WITH RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | 2 | 2 |
| 96 | 6 | 39 | 75 1986 JOURNAL OF INVESTIGATIVE DERMATOLOGY 87 (5): 597-601 BAUER EA; LUDMAN MD; GOLDBERG JD; BERKOWITZ RL; HOLBROOK KA ANTENATAL DIAGNOSIS OF RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA - COLLAGENASE EXPRESSION IN CULTURED FIBROBLASTS AS A BIOCHEMICAL MARKER | 2 | 10 |
| 97 | 6 | 26 | 101 1988 JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 18 (6): 1246-1252 IKEDA S; MANABE M; MURAMATSU T; TAKAMORI K; OGAWA H PROTEASE INHIBITOR THERAPY FOR RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA - INVITRO EFFECT AND CLINICAL-TRIAL WITH CAMOSTAT MESYLATE | 2 | 3 |
| 98 | 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 |
| 99 | 6 | 36 | 162 1992 ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE 119 (8): 563-565 FOUREL E; CLAUDY AL SQUAMOUS-CELL CARCINOMA AND RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA | 2 | 4 |
| 100 | 6 | 31 | 203 1992 JOURNAL OF INVESTIGATIVE DERMATOLOGY 99 (6): 808-812 KONIG A; LAUHARANTA J; BRUCKNERTUDERMAN L KERATINOCYTES AND FIBROBLASTS FROM A PATIENT WITH MUTILATING DYSTROPHIC EPIDERMOLYSIS-BULLOSA SYNTHESIZE DRASTICALLY REDUCED AMOUNTS OF COLLAGEN .7. LACK OF EFFECT OF TRANSFORMING GROWTH-FACTOR-BETA | 7 | 13 |
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