Results 111 to 120 of about 27,311 (150)

Case Report: Two neonatal cases of genetically confirmed junctional epidermolysis bullosa in a tertiary care center. [PDF]

Front Pediatr
Hammoud M, Youssef S, Khoury DM, Jbahi M, Dghaily A, Yamout S, Bdeir R, Mchad S, Kurban M, Akel S.   +9 more
europepmc   +1 more source

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection. [PDF]

Cureus, 2023
Rehman A, Raza H, Zia BF, Farahi F, Asher Syed M.   +4 more
europepmc   +1 more source

Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice. [PDF]

PLoS One, 2023
Sproule TJ, Philip VM, Chaudhry NA, Roopenian DC, Sundberg JP.   +4 more
europepmc   +1 more source

Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation. [PDF]

Pediatr Dermatol, 2022
Ahmed F, Young LR, Perman MJ.
europepmc   +1 more source

A novel bladder phenotype in junctional epidermolysis bullosa: a case report. [PDF]

Front Pediatr
He Q, Gui M, Wang H, Zhang L.
europepmc   +1 more source

Two Novel Mutations in LAMC2 Gene in Iranian Families Affected by Junctional Epidermolysis Bullosa. [PDF]

Rep Biochem Mol Biol, 2022
Taghdiri M, Naeimi S, Fardaei M, Tabei SMB.   +3 more
europepmc   +1 more source

Ophthalmic phenotype associated with a novel mutation in <i>LAMB3</i> gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa. [PDF]

Am J Ophthalmol Case Rep
Alzaben KA, Albakri A, Alshabeeb RS, Almontashiri N, Abu-Amero KK, Alzendi NA.   +5 more
europepmc   +1 more source

Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report. [PDF]

Front Genet, 2022
Wang W, Guo Q, Chen J, Zhang X, Li C, Li S, Liang J, Hao C, Wang J.   +8 more
europepmc   +1 more source

Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa.

JAMA Dermatol, 2022
Trefzer L, Schwieger-Briel A, Nyström A, Conradt G, Pohl M, Miernik A, Has C.   +6 more
europepmc   +1 more source

Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy. [PDF]

Vet Rec Open, 2021
Frattini S, Polli M, Cortellari M, Negro A, Bionda A, Riva J, Rizzi R, Marelli S, Crepaldi P.   +8 more
europepmc   +1 more source