246 related articles for article (PubMed ID: 32021608)
1. Previously Unreported
Venti V; Scalia B; Sauna A; Nasca MR; Smilari P; Praticò AD; Fiumara A; Pappalardo XG; Pavone P
Mol Syndromol; 2020 Jan; 10(6):332-338. PubMed ID: 32021608
[TBL] [Abstract][Full Text] [Related]
2. Detection of Novel Biallelic Causative Variants in
Fozia F; Nazli R; Alrashed MM; Ghneim HK; Haq ZU; Jabeen M; Alam Khan S; Ahmad I; Bourhia M; Aboul-Soud MAM
Diagnostics (Basel); 2022 Jun; 12(7):. PubMed ID: 35885431
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA
J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
[TBL] [Abstract][Full Text] [Related]
5. Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.
Suru A; Pâslaru AC; Țiplica GS; Sălăvăstru CM
Cureus; 2024 May; 16(5):e61160. PubMed ID: 38803406
[TBL] [Abstract][Full Text] [Related]
6. Mutation analysis and molecular genetics of epidermolysis bullosa.
Pulkkinen L; Uitto J
Matrix Biol; 1999 Feb; 18(1):29-42. PubMed ID: 10367729
[TBL] [Abstract][Full Text] [Related]
7. Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
Guerra L; Condorelli AG; Fortugno P; Calabresi V; Pedicelli C; Di Zenzo G; Castiglia D
Acta Derm Venereol; 2018 Apr; 98(4):411-415. PubMed ID: 29182795
[TBL] [Abstract][Full Text] [Related]
8. Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients.
Widhiati S; Danarti R; Trisnowati N; Purnomosari D; Wibawa T; Soebono H
Intractable Rare Dis Res; 2021 May; 10(2):88-94. PubMed ID: 33996353
[TBL] [Abstract][Full Text] [Related]
9. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.
Uitto J; Pulkkinen L; Christiano AM
J Invest Dermatol; 1994 Nov; 103(5 Suppl):39S-46S. PubMed ID: 7963683
[TBL] [Abstract][Full Text] [Related]
10. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
Christiano AM; Suga Y; Greenspan DS; Ogawa H; Uitto J
J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979
[TBL] [Abstract][Full Text] [Related]
11. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
Christiano AM; Anhalt G; Gibbons S; Bauer EA; Uitto J
Genomics; 1994 May; 21(1):160-8. PubMed ID: 8088783
[TBL] [Abstract][Full Text] [Related]
12. Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review.
Stefanescu BI; Radaschin DS; Mitrea G; Anghel L; Beznea A; Constantin GB; Tatu AL
Clin Pract; 2023 Jul; 13(4):873-880. PubMed ID: 37623260
[TBL] [Abstract][Full Text] [Related]
13. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
Christiano AM; Ryynänen M; Uitto J
Proc Natl Acad Sci U S A; 1994 Apr; 91(9):3549-53. PubMed ID: 8170945
[TBL] [Abstract][Full Text] [Related]
14. Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
Tampoia M; Bonamonte D; Filoni A; Garofalo L; Morgese MG; Brunetti L; Di Giorgio C; Annicchiarico G
Orphanet J Rare Dis; 2013 Sep; 8():132. PubMed ID: 24007552
[TBL] [Abstract][Full Text] [Related]
15. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A; Pulkkinen L; Uitto J
Hum Mutat; 1997; 10(5):338-47. PubMed ID: 9375848
[TBL] [Abstract][Full Text] [Related]
16. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
von Bartenwerffer W; Has C; Arin MJ; Tantcheva-Poór I; Kreuter A; Kremer K; Arshah T; Hoffmann M; Eming SA; Kohlhase J; Krieg T; Bruckner-Tuderman L; Hartmann K
Eur J Dermatol; 2011; 21(2):170-2. PubMed ID: 21382783
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
Ryynänen M; Ryynänen J; Sollberg S; Iozzo RV; Knowlton RG; Uitto J
J Clin Invest; 1992 Mar; 89(3):974-80. PubMed ID: 1347297
[TBL] [Abstract][Full Text] [Related]
19. Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
Saeidian AH; Youssefian L; Moreno Trevino MG; Fortuna G; Vahidnezhad H; Atanasova VS; Uitto J; Salas-Alanis JC; South AP
Clin Exp Dermatol; 2018 Jul; 43(5):579-584. PubMed ID: 29473190
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]