Zobrazeno 1 - 10
of 411
pro vyhledávání: '"Junctional epidermolysis bullosa (medicine)"'
Publikováno v:
Current Pediatric Reviews. 18:182-190
Epidermolysis bullosa (EB) is a group of rare congenital genetic conditions that result in painful blistering of the skin and mucous membranes, which occur with minor trauma or friction. There are many types and subtypes of EB that need to be disting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6da4680e02d79c416ff11f80fede4d5e
https://doi.org/10.2174/1573396317666210525161252
https://doi.org/10.2174/1573396317666210525161252
Autor:
Laura E. Levin, Catherine McCuaig, Anne W. Lucky, Kimberly D. Morel, Lawrence A. Schachner, Amy Huang, Harper N. Price, Irene Lara-Corrales, Moise L. Levy, Karen Wiss, Elena Pope, Phuong Khuu, Laura Kaplan, Jean Y. Tang, Kristen P. Hook, Amy S. Paller, Leslie Castelo-Soccio, Tor Shwayder, Kathleen Peoples, Marla N. Jahnke, Julie Powell, Susan J. Bayliss, Sharon A. Glick, John Browning, Gregory S. Phillips, Lawrence F. Eichenfield, Anna L. Bruckner, Bret D. Augsburger
Publikováno v:
Journal of the American Academy of Dermatology. 86:1063-1071
BACKGROUND Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. OBJECTIVE To describe diagnostic testing patterns and assess diagnostic concordance of transmission electron m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152917a3698a8d71d158d6510e77e93a
https://doi.org/10.1016/j.jaad.2021.09.065
https://doi.org/10.1016/j.jaad.2021.09.065
Autor:
Leila Youssefian, Jouni Uitto, Sirous Zeinali, Mohammad Hossein Anbardar, Hassan Vahidnezhad, Rahele A. Farahani
Publikováno v:
Inflammatory Bowel Diseases. 27:1865-1869
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3581a0990f12704ef7b2d12d887a80f2
https://doi.org/10.1093/ibd/izab141
https://doi.org/10.1093/ibd/izab141
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:
Thomas Hubiche, V. Verhaeghe, Isabelle Bailleul-Forestier, Christine Chiaverini, C. Joseph, Juliette Mazereeuw-Hautier, Thibault Canceill, Dominique Declerck, Ph Kémoun, Mathieu Marty, S.M. Dridi, Sophie-Caroline Campana
ispartof: J Am Acad Dermatol vol:87 issue:4 pages:872-874 ispartof: location:United States status: published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3578bcbb3ad3f1115ee5b46eb2993859
https://lirias.kuleuven.be/handle/123456789/684657
https://lirias.kuleuven.be/handle/123456789/684657
Autor:
Yi Zhen Ng, Lynette Wei Yi Wee, Ene-Choo Tan, Cristelle Chow, Ellen Birgitte Lane, Siew-Peng Lee, Hwee-Woon Lim, Te Lu Yap, Priya Bishnoi, John E.A. Common, Christina Ong, Mei Yi Low, Lian Derrick, Yee Hui Mok, Mark Jean Aan Koh, Declan P. Lunny
Publikováno v:
Pediatric Dermatology. 38:908-912
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0d6b28c67317100a8d312dbdd76a1c8
https://doi.org/10.1111/pde.14668
https://doi.org/10.1111/pde.14668
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:
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
Autor:
Katarzyna Wertheim-Tysarowska, Paweł Nieckula, Cezary Kowalewski, Sara Shamsa, Katarzyna Osipowicz, Katarzyna Wozniak, Piotr Wychowański
Publikováno v:
Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii
Introduction Epidermolysis bullosa (EB) is a rare genetic skin disorder inherited either in autosomal recessive (AR) or autosomal dominant (AD) manner and characterized by blistering of the skin and mucous membranes. According to a subtype of EB, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de109e36d338e1512172346234aa83d8
https://doi.org/10.5114/ada.2020.97072
https://doi.org/10.5114/ada.2020.97072
Autor:
Luiza Monteavaro Mariath, Juliana Tosetto Santin, Lavínia Schuler-Faccini, Ana Elisa Kiszewski
Publikováno v:
Anais Brasileiros de Dermatologia v.95 n.5 2020
Anais brasileiros de dermatologia
Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
Anais Brasileiros de Dermatologia, Volume: 95, Issue: 5, Pages: 551-569, Published: 16 NOV 2020
Anais Brasileiros de Dermatologia
Anais Brasileiros de Dermatologia, Vol 95, Iss 5, Pp 551-569 (2020)
Anais brasileiros de dermatologia
Sociedade Brasileira de Dermatologia (SBD)
instacron:SBD
Anais Brasileiros de Dermatologia, Volume: 95, Issue: 5, Pages: 551-569, Published: 16 NOV 2020
Anais Brasileiros de Dermatologia
Anais Brasileiros de Dermatologia, Vol 95, Iss 5, Pp 551-569 (2020)
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, bein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d97d8cacf961e6baf6cc82e23b5c9e5f
https://doi.org/10.1016/j.abd.2020.05.001
https://doi.org/10.1016/j.abd.2020.05.001