First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

Por CHIRIAC, Anca, RUSU, Cristina, MURGU, Alina, CHIRIAC, Anca E, WILSON, Neil J, SMITH, Frances J D
Publicado no Maedica (Bucur) (2017)

Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

Por Fu, Teresa, Leachman, Sancy A., Wilson, Neil J., Smith, Frances J.D., Schwartz, Mary E., Tang, Jean Y.
Publicado em 2010

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 no Indian J Dermatol (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 no J Invest Dermatol (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 em 2012

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Por Blaydon, Diana C., Lind, Lisbet K., Plagnol, Vincent, Linton, Kenneth J., Smith, Francis J.D., Wilson, Neil J., McLean, W.H. Irwin, Munro, Colin S., South, Andrew P., Leigh, Irene M., O’Toole, Edel A., Lundström, Anita, Kelsell, David P.
Publicado em 2013

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Por Lin, Zhimiao, Zhao, Jiahui, Nitoiu, Daniela, Scott, Claire A., Plagnol, Vincent, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, Schwartz, Mary E., McLean, W.H. Irwin, Wang, Huijun, Feng, Cheng, Duo, Lina, Zhou, Eray Yihui, Ren, Yali, Dai, Lanlan, Chen, Yulan, Zhang, Jianguo, Xu, Xun, O’Toole, Edel A., Kelsell, David P., Yang, Yong
Publicado no Am J Hum Genet (2015)

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 no J Allergy Clin Immunol (2015)

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Por Samuelov, Liat, Sarig, Ofer, Harmon, Robert M, Rapaport, Debora, Ishida-Yamamoto, Akemi, Isakov, Ofer, Koetsier, Jennifer L, Gat, Andrea, Goldberg, Ilan, Bergman, Reuven, Spiegel, Ronen, Eytan, Ori, Geller, Shamir, Peleg, Sarit, Shomron, Noam, Goh, Christabelle S M, Wilson, Neil J, Smith, Frances J D, Pohler, Elizabeth, Simpson, Michael A, McLean, W H Irwin, Irvine, Alan D, Horowitz, Mia, McGrath, John A, Green, Kathleen J, Sprecher, Eli
Publicado em 2013

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 em 2012