Results 121 to 130 of about 2,763 (196)

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

A Case of Junctional Epidermolysis Bullosa.

Nishi Nihon Hifuka, 1992
NIIMI, Naomasa, NOSO, Norio, MORITA, Eishin, YAMADA, Satoru, YAMAMOTO, Shoso   +4 more
openaire   +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

Junctional Epidermolysis Bullosa in a Neonate

Indian Pediatrics, 2018
Santhiya Srinivasan, Indar Kumar Sharawat, Lokesh Saini, Ak Mahapatra   +3 more
openaire   +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

Junctional Epidermolysis Bullosa Caused by a Hemiallelic Nonsense Mutation in <i>LAMA3</i> Revealed by 18q11.2 Microdeletion. [PDF]

Int J Mol Sci
Iacoviello M, Piglionica M, Tabaku O, Garganese A, De Marco A, Cardinale F, Bonamonte D, Resta N.   +7 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