Results 101 to 110 of about 2,763 (196)

Junctional epidermolysis bullosa [PDF]

, 2020
openaire   +3 more sources

Identification of a Homozygous Exon-Skipping Mutation in the LAMC2 Gene in a Patient with Herlitz's Junctional Epidermolysis Bullosa

, 1995
We describe a family with the Herlitz type of Junctional epidermolysis bullosa, in which the disease is associated with a homozygous splice-site mutation in the γ2-chain gene (LAMC2) of laminin-5.
Vailly, Joëlle, Christiano, Angela M., Ortonne, Jean-Paul, Meneguzzi, Guerrino, Uitto, Jouni, Pulkkinen, Leena, Tryggvason, Karl   +6 more
core   +1 more source

Issue Information

JEADV Clinical Practice, Volume 5, Issue 2, Page 351-356, June 2026.
wiley   +1 more source

Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

, 1986
Prenatal diagnosis of recessive dystrophic epidermolysis bullosa was successfully achieved at 19 weeks' gestation by indirect immunofluorescence examination of a fetal skin biopsy sample using the monoclonal antibody LH 7:2.
Heagerty, Adrian H M, Kennedy, Andrew R, Gunner, David B, Eady, Robin A J   +3 more
core   +1 more source

Categorizing immunofluorescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator

, 2010
Epidermolysis bullosa with pyloric atresia is a form of junctional epidermolysis bullosa associated with gastrointestinal abnormalities, which may include pyloric atresia. Genotype phenotype correlation is poorly understood and prognosis is difficult, if
Patricia J Dopping-Hepenstal, Dopping-Hepenstal, Patricia J H, McGrath, John A, Frew, John W, John A McGrath, John W Frew   +5 more
core   +1 more source

Collagenase and Connective Tissue Metabolism in Epidermolysis Bullosa

, 1972
Ninteen patients with various types of epidermolysis bullosa were studied for evidence of increased collagen catabolism. Cultures of clinically normal but pathologically blisterable skin from nine patients with dermolytic bullous dermatoses, four ...
Lazarus, Gerald S.
core   +1 more source

A fetal loss with junctional epidermolysis bullosa

, 2006
Epidermolysis bullosa(EB), a heterogenous group of mechanobullous disease in which minimal trauma during fetal life results in blisters at skin and mucous membranes.
Tokyol, Cigdem, Sahin, Figen Kir, Arioz, Dagistan Tolga, Koken, Gulengul Nadirgil, Koken, Resit   +4 more
core  

A Mouse Model of Generalized Non-Herlitz Junctional Epidermolysis Bullosa

, 2010
Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterized by fragile skin and blister formation as a result of dermal–epidermal mechanical instability.
Sproule, Thomas J., Roopenian, Derry C., Webb, Cameron M., Bubier, Jason A., Sproule, T J, Fine, J D, Alley, Lydia M., Sundberg, John P., Sundberg, J P, Fine, Jo-David, Roopenian, D C, Bubier, J A, Alley, L M, Webb, C M   +13 more
core   +1 more source

Epidermolysis bullosa simplex: A case report

Nigerian Journal of Paediatrics
Epidermolysis bullosa (EB) is a rare hereditary cutaneous disorder inherited mainly in an autosomal dominant fashion.1 It consists of a group of conditions that cause the skin to be fragile and blister easily.
Peterside O, Kunle-Olowu OE , Adeyemi OO , Akinbami FO, Omene J   +4 more
doaj  

Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice. [PDF]

PLoS One, 2023
Sproule TJ, Wilpan RY, Low BE, Silva KA, Reyon D, Joung JK, Wiles MV, Roopenian DC, Sundberg JP.   +8 more
europepmc   +1 more source