| 1 |
33914976 | Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa. | 2021 Sep |
4 |
| 2 |
31634165 | Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. | 2020 Apr |
1 |
| 3 |
33835003 | A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene. | 2020 Dec |
1 |
| 4 |
28164502 | A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa. | 2017 Jan 1 |
1 |
| 5 |
28164892 | Novel glycine substitution G2037R of COL7A1 in a Chinese boy with pretibial epidermolysis bullosa treated with oral olopatadine hydrochloride and topical Vitamin E. | 2017 Mar-Apr |
1 |
| 6 |
27790721 | A novel glycine substitution mutation in the COL7A1 gene in two Scottish families with dominant dystrophic epidermolysis bullosa presenting with milia on the hands and feet. | 2016 Dec |
1 |
| 7 |
24794830 | A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII. | 2014 Jul |
1 |
| 8 |
23397949 | Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa. | 2013 Mar |
1 |
| 9 |
23624125 | A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity. | 2013 Jul 25 |
1 |
| 10 |
21382783 | Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations. | 2011 Mar-Apr |
1 |
| 11 |
21448560 | Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. | 2011 May |
3 |
| 12 |
21547333 | In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive. | 2011 May |
1 |
| 13 |
19197535 | New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. | 2009 |
1 |
| 14 |
19250433 | A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. | 2009 Jan-Feb |
2 |
| 15 |
19726672 | Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. | 2009 Oct 30 |
1 |
| 16 |
20055845 | Epidermolysis bullosa pruriginosa in association with lichen planopilaris. | 2009 Dec |
1 |
| 17 |
18558993 | Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. | 2008 Jul |
1 |
| 18 |
19061625 | Pretibial epidermolysis bullosa. | 2008 Oct 15 |
1 |
| 19 |
17425959 | Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. | 2007 Jun |
1 |
| 20 |
17434045 | Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. | 2007 May |
1 |
| 21 |
16557343 | COL7A1 mutation G2037E causes epidermal retention of type VII collagen. | 2006 |
1 |
| 22 |
16923137 | Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1). | 2006 Aug |
1 |
| 23 |
16965438 | Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance. | 2006 Oct |
1 |
| 24 |
17106611 | Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. | 2006 |
1 |
| 25 |
17229600 | A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. | 2006 Nov-Dec |
4 |
| 26 |
16189623 | Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. | 2005 |
1 |
| 27 |
16225626 | Transient bullous dermolysis of the newborn in three generations. | 2005 Nov |
1 |
| 28 |
15113589 | The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. | 2004 May |
3 |
| 29 |
15115517 | A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. | 2004 May |
3 |
| 30 |
12823310 | A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa. | 2003 Jul |
3 |
| 31 |
14616374 | Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. | 2003 Oct |
1 |
| 32 |
14643524 | 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. | 2003 Dec |
1 |
| 33 |
11843659 | Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. | 2002 Feb |
1 |
| 34 |
11167698 | Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets. | 2001 Jan |
2 |
| 35 |
11260188 | Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. | 2001 Jan |
1 |
| 36 |
11260189 | Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. | 2001 Jan |
1 |
| 37 |
10620140 | Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. | 2000 Jan |
1 |
| 38 |
10836608 | A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. | 2000 Apr |
2 |
| 39 |
11142768 | Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. | 2000 Oct |
2 |
| 40 |
10232406 | Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation? | 1999 Apr |
1 |
| 41 |
10232408 | Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. | 1999 Apr |
1 |
| 42 |
10233777 | Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). | 1999 May |
2 |
| 43 |
10383749 | Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. | 1999 Jun |
1 |
| 44 |
10469344 | Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. | 1999 Sep |
1 |
| 45 |
10583163 | Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing. | 1999 Nov |
1 |
| 46 |
9668111 | Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. | 1998 Jul 24 |
1 |
| 47 |
9856843 | Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. | 1998 Dec |
1 |
| 48 |
9856844 | Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. | 1998 Dec |
1 |
| 49 |
9892921 | A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. | 1998 Oct |
2 |
| 50 |
9008239 | Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. | 1997 Feb |
3 |