PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease

por Peter, Dincy C. V., Smith, Frances J. D., Wilson, Neil J., Danda, Sumita
Publicado 2020

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

por Agarwala, Manoj, Salphale, Pankaj, Peter, Dincy, Wilson, Neil J, Pulimood, Susanne, Schwartz, Mary E, Smith, Frances J D
Publicado 2017

Expanding the Phenotypic Spectrum of Olmsted Syndrome

por Wilson, Neil J, Cole, Christian, Milstone, Leonard M, Kiszewski, Ana E, Hansen, C David, O'Toole, Edel A, Schwartz, Mary E, McLean, W H Irwin, Smith, Frances J D
Publicado 2015

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

por Sandilands, Aileen, Brown, Sara J., Goh, Christabelle S., Pohler, Elizabeth, Wilson, Neil J., Campbell, Linda E., Miyamoto, Kenichi, Kubo, Akiharu, Irvine, Alan D., Thawer-Esmail, Fatema, Munro, Colin S., McLean, W.H. Irwin, Kudoh, Jun, Amagai, Masayuki, Matsui, Takeshi
Publicado 2012

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

por McAleer, Maeve A., Pohler, Elizabeth, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, MacGowan, Stuart, Koetsier, Jennifer L., Godsel, Lisa M., Harmon, Robert M., Gruber, Robert, Crumrine, Debra, Elias, Peter M., McDermott, Michael, Butler, Karina, Broderick, Annemarie, Sarig, Ofer, Sprecher, Eli, Green, Kathleen J., McLean, W.H. Irwin, Irvine, Alan D.
Publicado 2015

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

por Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., Wilson, Neil J., Smith, Frances J. D., Goh, Christabelle S. M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J., Evans, Alan T., Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Akihiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J., McGrath, John A, Brown, Sara J., Goudie, David R., Reversade, Bruno, Munro, Colin S., McLean, W. H. Irwin
Publicado 2012