Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Neil J. Wilson"'
Publikováno v:
Indian Dermatology Online Journal, Vol 12, Iss 1, Pp 147-149 (2021)
Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules i
Externí odkaz:
https://doaj.org/article/2c419c3f5729475fbb9989e380596345
Autor:
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
Publikováno v:
Indian Journal of Dermatology, Vol 62, Iss 4, Pp 422-426 (2017)
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystro
Externí odkaz:
https://doaj.org/article/5ad5819a6ab04cab8722c9995bc99a0e
Autor:
Neil J. Wilson, A. Terron‐Kwiatowski, I. M. Kreuser‐Genis, F.J.D. Smith, C. S. Jury, M. Zamiri
Publikováno v:
Clin Exp Dermatol
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8422975f025a0e2d1975f50d9cee75b
https://doi.org/10.1111/ced.13800
https://doi.org/10.1111/ced.13800
Publikováno v:
British Journal of Dermatology. 181:618-620
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33576b739d4a40dca8e1be48fc66a849
https://doi.org/10.1111/bjd.17839
https://doi.org/10.1111/bjd.17839
Autor:
Neil J. Wilson, Frances J.D. Smith, Manoj Kumar Agarwala, Dincy Peter, Susanne Pulimood, Pankaj Salphale, Mary E. Schwartz
Publikováno v:
Indian Journal of Dermatology, Vol 62, Iss 4, Pp 422-426 (2017)
Indian Journal of Dermatology
Indian Journal of Dermatology
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3312c15224de96093c9bc03b91503070
http://www.e-ijd.org/article.asp?issn=0019-5154
http://www.e-ijd.org/article.asp?issn=0019-5154
Publikováno v:
Indian Journal of Dermatology, Venereology and Leprology, Vol 83, Iss 1, Pp 95-98 (2017)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f576a04f581fbcd157d94371bd4fdb9
http://www.ijdvl.com/article.asp?issn=0378-6323
http://www.ijdvl.com/article.asp?issn=0378-6323
Publikováno v:
International Journal of Dermatology. 57:e73-e75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f87c24cbae1f8628468e7a47cf06619
https://doi.org/10.1111/ijd.14096
https://doi.org/10.1111/ijd.14096
Autor:
Edel A. O'Toole, Jianguo Zhang, Eray Yihui Zhou, Xun Xu, Lanlan Dai, Mary E. Schwartz, Christian Cole, Vincent Plagnol, Claire A. Scott, Yong Yang, Yali Ren, Daniela Nitoiu, Lina Duo, Neil J. Wilson, Frances J.D. Smith, Yulan Chen, Cheng Feng, Zhimiao Lin, Jiahui Zhao, Huijun Wang, David P. Kelsell, W.H. Irwin McLean
Publikováno v:
The American Journal of Human Genetics. 96(3):440-447
Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cd864261546f5d5ddee7fff9957066f
Autor:
Anca, Chiriac, Cristina, Rusu, Alina, Murgu, Anca E, Chiriac, Neil J, Wilson, Frances J D, Smith
Publikováno v:
Maedica. 12(2)
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::239307a32918239669733656ba6c56ef
https://pubmed.ncbi.nlm.nih.gov/29090033
https://pubmed.ncbi.nlm.nih.gov/29090033
Autor:
C. David Hansen, Mary E. Schwartz, Leonard M. Milstone, Frances J.D. Smith, Neil J. Wilson, W.H. Irwin McLean, Eli Sprecher, Andrew A Shepherd, Elise Al-Asadi, Edel A. O'Toole
Publikováno v:
The British Journal of Dermatology
Background Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0560408d5735e97cf981978d3681bee
http://europepmc.org/articles/PMC4282083
http://europepmc.org/articles/PMC4282083