BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

354 related articles for article (PubMed ID: 11903238)

  • 21. Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.
    Christiano AM; Crollick J; Pincus S; Uitto J
    Exp Dermatol; 1999 Apr; 8(2):146-52. PubMed ID: 10232408
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa.
    Koga H; Hamada T; Ishii N; Fukuda S; Sakaguchi S; Nakano H; Tamai K; Sawamura D; Hashimoto T
    J Dermatol; 2011 May; 38(5):489-92. PubMed ID: 21352278
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
    Christiano AM; McGrath JA; Uitto J
    J Invest Dermatol; 1996 Apr; 106(4):766-70. PubMed ID: 8618018
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
    Natale MI; Manzur GB; Lusso SB; Cella E; Giovo ME; Andrada R; Goitia J; Fernández MF; Della Giovanna PS; Guillamondegui MJ; Domínguez M; Gutiérrez O; Izquierdo A; Hernández Herrera H; Velázquez Perdomo LG; Mistchenko AS; Valinotto LE
    Am J Med Genet A; 2022 Nov; 188(11):3153-3161. PubMed ID: 35979658
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
    Zhu KJ; Zhu CY; Zhou Y; Fan YM
    Genet Mol Res; 2014 Sep; 13(3):7587-92. PubMed ID: 25222259
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Recessive dystrophic epidermolysis bullosa: presentation of two forms.
    Medenica L; Lens M
    Dermatol Online J; 2008 Mar; 14(3):2. PubMed ID: 18627704
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Denuded congenital lesions: recessive dystrophic epidermolysis bullosa.
    Fleming KF; Wu JJ; Dyson SW; Dadras SS; Metz BJ
    Dermatol Online J; 2009 Apr; 15(4):4. PubMed ID: 19450397
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
    Leverkus M; Ambach A; Hoefeld-Fegeler M; Kohlhase J; Schmidt E; Schumann H; Has C; Gollnick H
    Br J Dermatol; 2011 May; 164(5):1104-6. PubMed ID: 21275939
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
    Covaciu C; Grosso F; Pisaneschi E; Zambruno G; Gregersen PA; Sommerlund M; Hertz JM; Castiglia D
    Br J Dermatol; 2011 Sep; 165(3):678-82. PubMed ID: 21574979
    [TBL] [Abstract][Full Text] [Related]  

  • 37. From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB).
    Eichstadt S; Tang JY; Solis DC; Siprashvili Z; Marinkovich MP; Whitehead N; Schu M; Fang F; Erickson SW; Ritchey ME; Colao M; Spratt K; Shaygan A; Ahn MJ; Sarin KY
    Clin Cosmet Investig Dermatol; 2019; 12():933-942. PubMed ID: 31920360
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. COL7A1 Recessive mutations in two siblings with distinct subtypes of dystrophic epidermolysis bullosa: pruriginosa versus nails only.
    Pruneddu S; Castiglia D; Floriddia G; Cottoni F; Zambruno G
    Dermatology; 2011 Feb; 222(1):10-4. PubMed ID: 21196708
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa.
    Feinstein JA; Bruckner AL; Chastek B; Anderson A; Roman J
    Orphanet J Rare Dis; 2022 Sep; 17(1):367. PubMed ID: 36175960
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.