163 related articles for article (PubMed ID: 38803406)
1. 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]
2. Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I; Tan EC; Gondokaryono SP; Koh MJ; Dwiyana RF; Rahardja JI; Yogya Y; Rafi'ee K; Suwarsa O
Australas J Dermatol; 2023 Nov; 64(4):e327-e332. PubMed ID: 37452458
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
6. Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM; Zhou J; Wang M; Wang Q; Sun L; Mshenga MM; Lu H
BMC Pediatr; 2024 Apr; 24(1):242. PubMed ID: 38580989
[TBL] [Abstract][Full Text] [Related]
7. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F; Wei R; Deng D; Zhang X; Cao Y; Pan C; Wang Y; Cao Q; Wang J; Zeng M; Huang L; Gu Y; Yao Z; Li M
J Eur Acad Dermatol Venereol; 2023 Feb; 37(2):411-419. PubMed ID: 36287101
[TBL] [Abstract][Full Text] [Related]
8. A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.
Phillips GS; Huang A; Augsburger BD; Kaplan L; Peoples K; Bruckner AL; Khuu P; Tang JY; Lara-Corrales I; Pope E; Wiss K; Levin LE; Morel KD; Hook KP; Paller AS; Eichenfield LF; McCuaig CC; Powell J; Castelo-Soccio L; Levy ML; Price HN; Schachner LA; Browning JC; Jahnke M; Shwayder T; Bayliss S; Lucky AW; Glick SA
J Am Acad Dermatol; 2022 May; 86(5):1063-1071. PubMed ID: 34634382
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alharthi R; Alnahdi MA; Alharthi A; Almutairi S; Al-Khenaizan S; AlBalwi MA
Front Genet; 2021; 12():753229. PubMed ID: 35222512
[TBL] [Abstract][Full Text] [Related]
11. A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
Liu J; Wang L
Acta Dermatovenerol Croat; 2021 Dec; 29(3):164-166. PubMed ID: 34990346
[TBL] [Abstract][Full Text] [Related]
12. Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
Dănescu S; Has C; Senila S; Ungureanu L; Cosgarea R
J Eur Acad Dermatol Venereol; 2015 May; 29(5):899-903. PubMed ID: 25201089
[TBL] [Abstract][Full Text] [Related]
13. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT; Hou PC; Chen PC; Chen WR; Huang HY; Wang JY; Huang YT; Wu YH; Su CL; Tang YA; Iwata H; Natsuga K; Chao SC; Sun HS; Tang MJ; Lee JY; McGrath JA; Hsu CK
Orphanet J Rare Dis; 2022 Dec; 17(1):451. PubMed ID: 36578049
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Bergson S; Daniely D; Bomze D; Mohamad J; Malovitski K; Meijers O; Briskin V; Bihari O; Malchin N; Israeli S; Mashiah J; Falik-Zaccai T; Avitan-Hersh E; Eskin-Schwartz M; Allon-Shalev S; Sarig O; Sprecher E; Samuelov L
Pediatr Dermatol; 2023; 40(6):1021-1027. PubMed ID: 37827535
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.
Rossi S; Castiglia D; Pisaneschi E; Diociaiuti A; Stracuzzi A; Cesario C; Mariani R; Floriddia G; Zambruno G; Boldrini R; Abeni D; Novelli A; Alaggio R; El Hachem M
J Eur Acad Dermatol Venereol; 2021 Apr; 35(4):1007-1016. PubMed ID: 33274474
[TBL] [Abstract][Full Text] [Related]
19. Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
Mellado F; Fuentes I; Palisson F; I Vergara J; Kantor A
Cornea; 2018 Apr; 37(4):442-447. PubMed ID: 29384803
[TBL] [Abstract][Full Text] [Related]
20. Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.
Barzegar M; Asadi-Kani Z; Mozafari N; Vahidnezhad H; Kariminejad A; Toossi P
Int J Dermatol; 2015 Oct; 54(10):e416-23. PubMed ID: 26220012
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
