207 related articles for article (PubMed ID: 16189623)
1. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D; Goto M; Yasukawa K; Sato-Matsumura K; Nakamura H; Ito K; Nakamura H; Tomita Y; Shimizu H
J Hum Genet; 2005; 50(10):543-546. PubMed ID: 16189623
[TBL] [Abstract][Full Text] [Related]
2. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
Dang N; Klingberg S; Marr P; Murrell DF
J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959
[TBL] [Abstract][Full Text] [Related]
3. Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
Koshida S; Tsukamura A; Yanagi T; Nakahara S; Takeuchi Y; Kato T; Tanaka T; Nakano H; Shimizu H
Pediatr Int; 2013 Apr; 55(2):234-7. PubMed ID: 23679163
[TBL] [Abstract][Full Text] [Related]
4. Five Novel
Yan Y; Meng Z; Hao S; Wang F; Jin X; Sun D; Gao H; Ma X
Ann Clin Lab Sci; 2018 Jan; 48(1):100-105. PubMed ID: 29531004
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N; Murrell DF
Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993
[TBL] [Abstract][Full Text] [Related]
6. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
Nakamura H; Sawamura D; Goto M; Sato-Matsumura KC; LaDuca J; Lee JY; Masunaga T; Shimizu H
J Dermatol Sci; 2004 May; 34(3):195-200. PubMed ID: 15113589
[TBL] [Abstract][Full Text] [Related]
7. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N; Liu L; Dopping-Hepenstal PJ; Lai-Cheong JE; Wong A; Nanda A; Moss C; Martinéz AE; Mellerio JE; McGrath JA
Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
[TBL] [Abstract][Full Text] [Related]
8. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
Zhang XJ; Song YX; Zhang XQ; Yang S; Li M; Li CR; Yang CJ; Yang J
Clin Exp Dermatol; 2003 Jul; 28(4):437-9. PubMed ID: 12823310
[TBL] [Abstract][Full Text] [Related]
9. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
Ishiko A; Masunaga T; Ota T; Nishikawa T
Exp Dermatol; 2004 Apr; 13(4):229-33. PubMed ID: 15086338
[TBL] [Abstract][Full Text] [Related]
10. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R; Sadowski S; Uitto J; Pfendner E
J Med Genet; 2007 Mar; 44(3):181-92. PubMed ID: 16971478
[TBL] [Abstract][Full Text] [Related]
11. 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.
Christiano AM; Anton-Lamprecht I; Amano S; Ebschner U; Burgeson RE; Uitto J
Am J Hum Genet; 1996 Apr; 58(4):682-93. PubMed ID: 8644730
[TBL] [Abstract][Full Text] [Related]
12. 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.
Csikós M; Szocs HI; Lászik A; Mecklenbeck S; Horváth A; Kárpáti S; Bruckner-Tuderman L
Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
[TBL] [Abstract][Full Text] [Related]
13. Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
Murata T; Masunaga T; Ishiko A; Shimizu H; Nishikawa T
Arch Dermatol Res; 2004 Mar; 295(10):442-7. PubMed ID: 14727126
[TBL] [Abstract][Full Text] [Related]
14. Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
Masunaga T; Kubo A; Ishiko A
J Dermatol; 2018 Jun; 45(6):742-745. PubMed ID: 29500833
[TBL] [Abstract][Full Text] [Related]
15. Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.
Ma THT; Luong TLA; Hoang TL; Nguyen TTH; Vu TH; Tran VK; Nguyen DB; Trieu TS; Nguyen HH; Nong VH; Nguyen DT
Mol Genet Genomic Med; 2021 Aug; 9(8):e1748. PubMed ID: 34286919
[TBL] [Abstract][Full Text] [Related]
16. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
Kon A; Nomura K; Pulkkinen L; Sawamura D; Hashimoto I; Uitto J
J Invest Dermatol; 1997 Nov; 109(5):684-7. PubMed ID: 9347800
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Gardella R; Castiglia D; Posteraro P; Bernardini S; Zoppi N; Paradisi M; Tadini G; Barlati S; McGrath JA; Zambruno G; Colombi M
J Invest Dermatol; 2002 Dec; 119(6):1456-62. PubMed ID: 12485454
[TBL] [Abstract][Full Text] [Related]
18. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
Ryoo YW; Kim BC; Lee KS
J Dermatol Sci; 2001 Jun; 26(2):125-32. PubMed ID: 11378329
[TBL] [Abstract][Full Text] [Related]
19. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.
Chiaverini C; Charlesworth A; Fernandez A; Barbarot S; Bessis D; Bodemer C; Bursztejn AC; Cobo AM; Del Rio M; D'Incan M; Labrèze C; Langlet C; Mazereeuw J; Miquel J; Vabres P; Meneguzzi G; Lacour JP
Br J Dermatol; 2014 Apr; 170(4):901-6. PubMed ID: 24252097
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
