Results 121 to 130 of about 81,034 (193)

A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. [PDF]

Orphanet J Rare Dis, 2022
So JY, Fulchand S, Wong CY, Li S, Nazaroff J, Gorell ES, de Souza MP, Murrell DF, Teng JM, Chiou AS, Tang JY.   +10 more
europepmc   +1 more source

An isogenic hiPSC-derived keratinocyte model reveals CXCL10/CXCL11 inflammatory dysregulation in epidermolysis bullosa simplex. [PDF]

Front Cell Dev Biol
Saidani M, Martineau S, Mahmoud M, Domingues S, Doyen M, El Kassar L, Hadj-Rabia S, Bodemer C, Allouche J, Baldeschi C, Holic N.   +10 more
europepmc   +1 more source

Treatment Landscape for Epidermolysis Bullosa Simplex: A Review of Established and Emerging Therapies. [PDF]

Pediatr Dermatol
Hanrahan GB, Zhu A, Reusch DB, Teng JMC.
europepmc   +1 more source

Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care. [PDF]

Orphanet J Rare Dis, 2021
Marro M, De Smet S, Caldari D, Lambe C, Leclerc-Mercier S, Chiaverini C.   +5 more
europepmc   +1 more source

Sustained clinical remission of epidermolysis bullosa simplex due to a pathogenic KRT14 variant in a 7-year-old girl. [PDF]

JAAD Case Rep
Tayeh SA, Ayoub N.
europepmc   +1 more source

Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex. [PDF]

Front Genet, 2021
Chen F, Yao L, Zhang X, Gu Y, Yu H, Yao Z, Zhang J, Li M.   +7 more
europepmc   +1 more source

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome. [PDF]

Pediatr Dermatol
Warnken SG, Kibbie J, Larson A, Chatfield KC, Bruckner AL.   +4 more
europepmc   +1 more source

Studies - 'neural network' algorithm to predict severity in epidermolysis bullosa simplex

, 2005
BACKGROUND AND AIMS: There are various genotypic variations known for the four phenotypic presentations of epidermolysis bullosa simplex (EBS). A neural network algorithm may be used to find the relationship between the various factors responsible ...
Bell Raj Eapen
core  

Long-term survival in severe epidermolysis bullosa simplex with the potentially fatal <i>KRT5</i> p.Glu477Lys variant. [PDF]

JAAD Case Rep
Rayinda T, Ferronika P, Pungky A, Asifa NN, Danarti R.   +4 more
europepmc   +1 more source

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex. [PDF]

Ann Dermatol, 2021
Jiang X, Zhu Y, Sun H, Gu F.
europepmc   +1 more source