Zobrazeno 1 - 10
of 17
pro vyhledávání: '"H M, Horn"'
Autor:
Hiroshi Shimizu, Toshifumi Nomura, Neil J. Wilson, Moez Gribaa, Sébastien Teissier, Alan D. Irvine, Alan Evans, W.H. Irwin McLean, Sara J. Brown, Mohamed Denguezli, Ali Saad, Mohammad Shboul, Ons Mamaï, Christian Cole, Geoffrey J. Barton, M. Zamiri, John A. McGrath, Colin S. Munro, Jennifer Hirst, Patricia J.C. Dopping-Hepenstal, Frances J.D. Smith, Lobna Boussofara, Mitsuhiro Suehiro, Elizabeth Pohler, David Goudie, Benvon Moran, Bruno Reversade, H. M. Horn, Aileen Sandilands, Christabelle S M Goh, Izumi Konohana, Masashi Akiyama
Publikováno v:
Nature genetics
Nature genetics, 44(11), 1272-1276. Nature Publishing Group
Nature genetics, 44(11), 1272-1276. Nature Publishing Group
Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics(1-3). Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and soles with considerabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a0e0e3b892675d1146fd9e86bd1469
https://doi.org/10.1038/ng.2444
https://doi.org/10.1038/ng.2444
Autor:
H. M. Horn, M.J. Tidman
Publikováno v:
Clinical and Experimental Dermatology. 27:707-710
The quality of life of people with epidermolysis bullosa (EB) living in Scotland was assessed by postal questionnaire using the Dermatology Life Quality Index (DLQI) and the Children's Dermatology Life Quality Index (CDLQI). There were 143 people wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::660a6d056e1251c0251cde6d5e1787a7
https://doi.org/10.1046/j.1365-2230.2002.01121.x
https://doi.org/10.1046/j.1365-2230.2002.01121.x
Autor:
M.J. Tidman, N. C. Hepburn, E. B. Lane, H. M. Horn, S. Keohane, D. J. Atherton, Carrie S. Shemanko, A.I.G. Kerr
Publikováno v:
British Journal of Dermatology. 142:315-320
The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EB). Two unrelated infants with no family history of skin disease a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbe4489a3f9c9e7b72415f8c58961640
https://doi.org/10.1046/j.1365-2133.2000.03304.x
https://doi.org/10.1046/j.1365-2133.2000.03304.x
Autor:
J E, Mellerio, L, Pulkkinen, J R, McMillan, B D, Lake, H M, Horn, M J, Tidman, J I, Harper, J A, McGrath, J, Uitto, R A, Eady
Publikováno v:
British Journal of Dermatology. 139:862-871
Junctional epidermolysis bullosa associated with pyloric atresia (EB-PA; OMIM 226730) is a rare autosomal recessively inherited disease in which mucocutaneous fragility is associated with gastrointestinal atresia. This disease is usually fatal within
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb5849d142aba9b0906a45a7d73a05c
https://doi.org/10.1046/j.1365-2133.1998.02515.x
https://doi.org/10.1046/j.1365-2133.1998.02515.x
Autor:
G. H. S. Ashton, H. M. Horn, Julio C. Salas-Alanis, Robin A.J. Eady, John A. McGrath, M.J. Tidman, M. L. Talamantes, Jemima E. Mellerio
Publikováno v:
British Journal of Dermatology. 139:730-737
Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). Nearly all cases of dominant DEB are caused by glycine substitution mutations occurring within the triple helical region of type VII collagen, and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39d97e9bf99210a0889d7bab465f569e
https://doi.org/10.1046/j.1365-2133.1998.02496.x
https://doi.org/10.1046/j.1365-2133.1998.02496.x
Publikováno v:
British Journal of Dermatology. 136:560-564
The prevalence of epidermolysis bullosa (EB) in Britain and most other countries is unknown. Patients suffering from the inherited forms of EB and living in Scotland have been traced. Two hundred and fifty-nine affected people from 76 families have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99142edd641b30d359be5ad2d44f233b
https://doi.org/10.1046/j.1365-2133.1997.d01-1235.x
https://doi.org/10.1046/j.1365-2133.1997.d01-1235.x
Autor:
Gareth Magee, E. Birgitte Lane, Frances J.D. Smith, Neil J. Wilson, Carrie S. Shemanko, Alison J. M. Hill, E.L. Rugg, M.J. Tidman, D. Baty, H. M. Horn
Publikováno v:
The Journal of investigative dermatology. 127(3)
Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caused by mutations in keratins K5 (keratin 5) and K14 (keratin 14), with fragility of basal keratinocytes leading to epidermal cytolysis and blistering. Patients present with widely v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae440aa7a968dbbb84f1e9ba8a0041ea
https://pubmed.ncbi.nlm.nih.gov/17039244
https://pubmed.ncbi.nlm.nih.gov/17039244
Publikováno v:
Contact dermatitis. 52(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04ab311633b006010117c61c4ba9d2f
https://pubmed.ncbi.nlm.nih.gov/15859997
https://pubmed.ncbi.nlm.nih.gov/15859997
Autor:
H. M. Horn, R. D. Aldridge
Publikováno v:
Contact dermatitis. 49(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7db4ee0f1055506fac1363fb961a486
https://pubmed.ncbi.nlm.nih.gov/14678219
https://pubmed.ncbi.nlm.nih.gov/14678219
Autor:
H M, Horn, M J, Tidman
Publikováno v:
Clinical and experimental dermatology. 27(8)
The quality of life of people with epidermolysis bullosa (EB) living in Scotland was assessed by postal questionnaire using the Dermatology Life Quality Index (DLQI) and the Children's Dermatology Life Quality Index (CDLQI). There were 143 people wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da7a04029fe0c6d92ed83a2a88706ec7
https://pubmed.ncbi.nlm.nih.gov/12472552
https://pubmed.ncbi.nlm.nih.gov/12472552