Results 121 to 130 of about 27,311 (150)

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

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

Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations. [PDF]

Acta Derm Venereol, 2021
Hou PC, Natsuga K, Tu WT, Huang HY, Chen B, Chen LY, Chen WR, Hong YK, Tang YA, Lee JY, Chen PC, Sun HS, McGrath JA, Hsu CK.   +13 more
europepmc   +1 more source

A homozygous LAMB3 frameshift variant in junctional epidermolysis bullosa-affected Bleu du Maine sheep. [PDF]

J Appl Genet
Letko A, Harkema L, Peterson K, Dijkman R, Drögemüller C.   +4 more
europepmc   +1 more source

Real-world case series: Birch triterpenes gel efficacy in 2 patients with junctional epidermolysis bullosa. [PDF]

JAAD Case Rep
Collins A, Myers EM, Derrick KM, Glick SA.   +3 more
europepmc   +1 more source

Efficient Dual Cas9 Nickase Correction of a Prevalent Pathogenic LAMB 3 Variant for Junctional Epidermolysis Bullosa. [PDF]

JID Innov
du Rand A, Hunt J, Verdon D, Buttle B, Dunbar PR, Purvis D, Feisst V, Sheppard H.   +7 more
europepmc   +1 more source

Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays. [PDF]

NPJ Genom Med
Chen F, Wei R, Wang Y, Cao Q, Wang J, Wang C, Yao D, Yao Z, Ni C, Li M.   +9 more
europepmc   +1 more source

Extensive Extragenital Lichen Sclerosus-Like Lesions in a Patient with Junctional Epidermolysis Bullosa. [PDF]

Indian Dermatol Online J
Gupta S, Handa S, Chatterjee D, De D, Mahajan R.   +4 more
europepmc   +1 more source

Pregnancy-associated blistering in a patient with junctional epidermolysis bullosa. [PDF]

JAAD Case Rep
Hertel L, Hutton M, Bogner P, Grover R, Kuraitis D.   +4 more
europepmc   +1 more source

Compound Heterozygous Null Variants in <i>ITGB4</i> Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature. [PDF]

Int J Genomics
Klangjorhor J, Pomrop M, Thongkumkoon P, Moonsan N, Khiaomai R, Pasena A, Suksakit P, Pruksachatkun C, Tengsujaritkul M.   +8 more
europepmc   +1 more source