244 related articles for article (PubMed ID: 14616374)
1. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R; Bleck O; Mellerio JE; Ashton GH; Eady RA; McGrath JA
Br J Dermatol; 2003 Oct; 149(4):810-8. PubMed ID: 14616374
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Kon A; McGrath JA; Pulkkinen L; Nomura K; Nakamura T; Maekawa Y; Christiano AM; Hashimoto I; Uitto J
J Invest Dermatol; 1997 Feb; 108(2):224-8. PubMed ID: 9008239
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
Ouragini H; Cherif F; Kassar S; Floriddia G; Pascucci M; Daoud W; Osman-Dhahri AB; Boubaker S; Castiglia D; Abdelhak S
J Dermatol Sci; 2009 May; 54(2):114-20. PubMed ID: 19261445
[TBL] [Abstract][Full Text] [Related]
7. Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
Hashimoto I; Kon A; Tamai K; Uitto J
Exp Dermatol; 1999 Apr; 8(2):140-2. PubMed ID: 10232406
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Christiano AM; McGrath JA; Tan KC; Uitto J
Am J Hum Genet; 1996 Apr; 58(4):671-81. PubMed ID: 8644729
[TBL] [Abstract][Full Text] [Related]
10. A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.
Komatsu K; Yamaguchi S; Utsumi D; Yamamoto I; Takahashi K
Acta Dermatovenerol Croat; 2020 Dec; 28(4):251-252. PubMed ID: 33835003
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Localised de novo dominant dystrophic epidermolysis bullosa].
Bursztejn AC; Pinault AL; Le Louarn Y; Lacour JP; Charlesworth A; Meneguzzi G; Truchetet F
Ann Dermatol Venereol; 2008 Mar; 135(3):195-9. PubMed ID: 18374850
[TBL] [Abstract][Full Text] [Related]
13. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Lee JY; Li C; Chao SC; Pulkkinen L; Uitto J
Arch Dermatol Res; 2000 Apr; 292(4):159-63. PubMed ID: 10836608
[TBL] [Abstract][Full Text] [Related]
14. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS; Lu Y; Farhi A; Nelson-Williams C; Kashgarian M; Glusac EJ; Lifton RP; Antaya RJ; Choate KA
Pediatr Dermatol; 2012; 29(6):725-31. PubMed ID: 22515571
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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.
Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; Zambruno G; Bruckner-Tuderman L; Castiglia D
J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
[TBL] [Abstract][Full Text] [Related]
17. Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
Wessagowit V; Ashton GH; Mohammedi R; Salas-Alanis JC; Denyer JE; Mellerio JE; Eady RA; McGrath JA
Clin Exp Dermatol; 2001 Jan; 26(1):97-9. PubMed ID: 11260189
[TBL] [Abstract][Full Text] [Related]
18. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Uitto J
Acta Derm Venereol; 2011 May; 91(3):259-61. PubMed ID: 21547333
[No Abstract] [Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]