Results 71 to 80 of about 1,088 (130)

Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation. [PDF]

J Med Genet
Warshauer EM, Maier PA, Runfeldt G, Fuentes I, Escamez MJ, Valinotto L, Natale M, Manzur G, Illera N, Garcia M, Del Rio M, Mencia A, Holguin A, Larcher F, Hellenthal G, Brown AR, Consuegra L, Rivera C, Nogueiro I, Tang J, Oro A, Marinkovich P, Palisson F, Titeux M, Hovnanian AA, Sprecher E, Skorecki K, Norris D, Bruckner A, Kogut I, Bilousova G, Roop D.   +31 more
europepmc   +1 more source

A Rare Cause of Childhood Nephrotic Syndrome: AA Amyloidosis in Epidermolysis Bullosa. [PDF]

Cureus
Gulmez R, Yilmaz S, Saygili S, Hurdogan O, Agbas A, Karabag Yilmaz E, Apaydın Sever G, Canpolat N.   +7 more
europepmc   +1 more source

The Saudi National Policy and Protocol for Epidermolysis Bullosa. [PDF]

Risk Manag Healthc Policy
Alheggi A, Alhashem A, Alshihry HMH, Al-Khenaizan S, Alshammrie FF, AlEissa MM, Almudaiheem HY, Shehata N, Alshingetti N, Almudeer AH, Alshammari IF, Alsefri MF, Al-Jedai A, Eshmawi MT.   +13 more
europepmc   +1 more source

SOX2 Is a Potential Diagnostic Biomarker and Anticancer Target in Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa: A Case Series Study. [PDF]

JID Innov
Harrs C, Bolling M, van den Akker P, Koopman B, Horváth B, Diercks G, van Kempen L.   +6 more
europepmc   +1 more source

Skin microbiome analysis of a junctional epidermolysis bullosa patient treated with genetically modified stem cells. [PDF]

J Dtsch Dermatol Ges
Dermietzel A, Tosun B, Nguyen M, Wessel K, Rauer L, Neumann AU, Hirsch T, CK‐CARE study group, Traidl-Hoffmann C, Reiger M, Hülpüsch C, Kueckelhaus M.   +11 more
europepmc   +1 more source

Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: A Review of Pathogenesis, Diagnosis and Management. [PDF]

Cancers (Basel)
Chandrasekaran A, Moser JC.
europepmc   +1 more source

A block staining method using ethanolic phosphotungstic acid for the visualisation of collagens in transmission electron microscopy. [PDF]

PLoS One
Obermayer A, Hainzl S, Koller U, Lang D, Lamprecht B, Stoiber W.   +5 more
europepmc   +1 more source

Mesenchymal intravenous stromal cell infusions in children with recessive dystrophic epidermolysis bullosa: MissionEB protocol for a randomised, double-blinded, placebo-controlled, two-centre, crossover trial with an internal phase I dose de-escalation phase and open-label extension. [PDF]

BMJ Open
Bageta ML, López-Balboa P, Dimairo M, Glover R, Hutchence K, Papaioannou D, Cooper C, Biggs K, Tappenden P, Ennis K, Ogboli M, Lovgren ML, Poudel P, Nadeem M, McGrath JA, Julious SA, Petrof G, Martinez AE.   +17 more
europepmc   +1 more source

Cross-sectional analysis of wound-associated soluble factors in early, established, and chronic wounds of recessive dystrophic epidermolysis bullosa patients. [PDF]

Arch Dermatol Res
Alexeev V, Huitema L, Phillips T, Patel P, Garza MS, Ringpfeil F, Salas-Alanis JC, Igoucheva O.   +7 more
europepmc   +1 more source

Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the <i>COL7A1</i> gene: A case report. [PDF]

World J Clin Cases
Yang Y, Guan ZW, Li QF.
europepmc   +1 more source