Zobrazeno 1 - 10
of 30
pro vyhledávání: '"EB, epidermolysis bullosa"'
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 17, Iss, Pp 21-27 (2021)
JAAD Case Reports, Vol 17, Iss, Pp 21-27 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485deaccddcade10c7d512c400c3eeec
http://europepmc.org/articles/PMC8502715
http://europepmc.org/articles/PMC8502715
Autor:
Gurpur Shashidhar Pai, Ellen G Pfendner, Alan Snyder, Mark Siegel, Lara Wine Lee, Carter Ellis, Chelsea Eason, Erin Ryan
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 11, Iss, Pp 63-68 (2021)
JAAD Case Reports, Vol 11, Iss, Pp 63-68 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ed94b853c7ca4260c01ae0c7fd7d1e
https://doi.org/10.1016/j.jdcr.2021.03.016
https://doi.org/10.1016/j.jdcr.2021.03.016
Autor:
Christopher T. Richardson, Mary Gail Mercurio, Owen Dean, Raminder Grover, Elizabeth H. Cusick
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 7, Iss, Pp 137-140 (2021)
JAAD Case Reports, Vol 7, Iss, Pp 137-140 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492686625cde4594457395c0832c2d7b
https://doi.org/10.1016/j.jdcr.2020.11.024
https://doi.org/10.1016/j.jdcr.2020.11.024
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 16, Iss, Pp 69-71 (2021)
JAAD Case Reports, Vol 16, Iss, Pp 69-71 (2021)
Epidermolysis bullosa (EB) is a group of rare, inherited blistering disorders characterized by deficient dermoepidermal cohesion, resulting in fragile, easily blistered skin. The dystrophic variants are caused by a number of mutations of the COL7A1 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec2e3148bb90a4e04579a7c0edad89e
http://europepmc.org/articles/PMC8427235
http://europepmc.org/articles/PMC8427235
Autor:
Nouf Aljomah, Salim Alkeraye, Marwan M. Al-Khawajah, Abeer Adeeb Alabduljabbar, Nour Marwan AlKhawajah
Publikováno v:
JAAD Case Reports, Vol 12, Iss, Pp 60-63 (2021)
JAAD Case Reports
JAAD Case Reports
Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by blistering in response to minor trauma. It is divided into 3 major categories based on the depth of skin blistering, as follows: 1) EB simplex (EBS), 2) junctional EB,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07fb4218b02bcfd2f5acb5f85b3bcd09
http://www.sciencedirect.com/science/article/pii/S2352512621002009
http://www.sciencedirect.com/science/article/pii/S2352512621002009
Autor:
John C Su, Johannes S. Kern, Clare L. Rogers, Dedee F. Murrell, Benjamin S. Daniel, Matthew J. Gibson, Grant Feng, Susan J. Robertson, Oliver G. C. Murrell, Linda K. Martin
Publikováno v:
JAAD International, Vol 2, Iss, Pp 134-152 (2021)
JAAD International
JAAD International
Background The success of clinical trials in Epidermolysis Bullosa (EB) is dependent upon the availability of a valid and reliable scoring tool that can accurately assess and monitor disease severity. The Epidermolysis Bullosa Disease Activity and Sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17f39007221f7ab86affc1bb4f06f3cd
http://www.sciencedirect.com/science/article/pii/S2666328720300845
http://www.sciencedirect.com/science/article/pii/S2666328720300845
Publikováno v:
JAAD Case Reports, Vol 7, Iss, Pp 134-136 (2021)
JAAD Case Reports
JAAD Case Reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa53a7bcc0588e5fbdb7acd9119e6e4b
http://www.sciencedirect.com/science/article/pii/S2352512620308298
http://www.sciencedirect.com/science/article/pii/S2352512620308298
Autor:
Rebecca Tryon, Matthew Bower, Sarah M. Preusser, Douglas R. Keene, Bharat Thyagarajan, Jakub Tolar, Megan J. Riddle, Christen L. Ebens
Publikováno v:
JAAD Case Reports
A KRT5 disease-causing variant was first associated with epidermolysis bullosa simplex by Dowling-Meara in 1992.1 Additional variants throughout the KRT5 and KRT14 genes have subsequently been associated with phenotypic variants of EBS as well as oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21705adf9207a2e71737358bb58dc7cf
http://europepmc.org/articles/PMC6610641
http://europepmc.org/articles/PMC6610641
Publikováno v:
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGReferences. 18(11)
The care of patients with epidermolysis bullosa (EB) poses a major challenge due to the rarity, heterogeneity and complexity of the disease as well as the occurrence of numerous primary and secondary extracutaneous manifestations, causing a significa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8e41f252e2c9dc86d9dd0ecd964e21
https://pubmed.ncbi.nlm.nih.gov/32776692
https://pubmed.ncbi.nlm.nih.gov/32776692
Autor:
Erica Ann Grilletta
Publikováno v:
JAAD Case Reports
Epidermolysis bullosa simplex (EBS) is a rare inherited blistering disease characterized by mutations in several genes encoding for structural proteins within the epidermis. Mutations in kelch-like protein 24 (KLHL24) were recently implicated in a un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f96660795026f4a9465c35164278af86
https://doi.org/10.1016/j.jdcr.2019.08.009
https://doi.org/10.1016/j.jdcr.2019.08.009