Mutations in ATP2C1 , encoding a calcium pump, cause Hailey-Hailey disease von Hu, Zhilan, Epstein, Ervin H, Bonifas, Jeannette M, Beech, Jenna, Bench, Graham, Shigihara, Takako, Ogawa, Hideoki, Ikeda, Shigaku, Mauro, Theodora

Volltext

Activating Smoothened mutations in sporadic basal-cell carcinoma von Jr, Ervin H. Epstein, de Sauvage, Frederic J, Xie, Jingwu, Murone, Maximilien, Luoh, Shiuh-Ming, Ryan, Anne, Gu, Qimin, Zhang, Chaohui, Bonifas, Jeannette M, Lam, Ching-Wan, Hynes, Mary, Goddard, Audrey, Rosenthal, Arnon

Volltext

Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus Syndrome von Aszterbaum, Michelle, Rothman, Alana, Fisher, Monte, Xie, Jingwu, Bonifas, Jeannette M., Zhang, Xioli, Epstein, Ervin H., Johnson, Ronald L., Scott, Mathew P.

Volltext

Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog von Oro, Anthony E., Higgins, Kay M., Hu, Zhilan, Bonifas, Jeannette M., Epstein, Ervin H., Scott, Matthew P.

Volltext

Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome von Johnson, Ronald L., Rothman, Alana L., Xie, Jingwu, Goodrich, Lisa V., Bare, John W., Bonifas, Jeannette M., Quinn, Anthony G., Myers, Richard M., Cox, David R., Epstein, Ervin H., Scott, Matthew P.

Volltext

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities von Bonifas, J. M., Rothman, A. L., Epstein, E. H.

Volltext

A Role of PDGFRα in Basal Cell Carcinoma Proliferation von Xie, Jingwu, Aszterbaum, Michelle, Zhang, Xiaoli, Bonifas, Jeannette M., Zachary, Christopher, Epstein, Ervin, McCormick, Frank

Volltext

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma von Smith, F. J. D., Fisher, M. P., Healy, E., Rees, J. L., Bonifas, J. M., Epstein Jr, E. H., Tan, E. M. L., Uitto, J., McLean, W. H. I.

Volltext

Activation of Expression of Hedgehog Target Genes in Basal Cell Carcinomas von Bonifas, Jeannette M., Epstein, Ervin H., Pennypacker, Sally, Chuang, Pao-Tien, McMahon, Andrew P., Williams, Mickey, Rosenthal, Arnon, de Sauvage, Frederic J.

Volltext

Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22 von Curtiss, Nicole P., Bonifas, Jeannette M., Lauchle, Jennifer O., Balkman, Jason D., Kratz, Christian P., Emerling, Brooke M., Green, Eric D., Le Beau, Michelle M., Shannon, Kevin M.

Volltext

Cloning of a cDNA for Steroid Sulfatase: Frequent Occurrence of Gene Deletions in Patients with Recessive X Chromosome-Linked Ichthyosis von Bonifas, Jeannette M., Morley, Bernard J., Oakey, Robert E., Kan, Yuet Wai, Epstein, Ervin H.

Volltext

Keratin 14 Gene Mutations in Patients with Epidermolysis Bullosa Simplex von Chen, Hua, Bonifas, Jeannette M., Matsumura, Kunie, Ikeda, Shigaku, Leyden, Wendy A., Epstein, Ervin H.

Volltext

Parental origin of chromosome 9q22.3–q31 lost in basal cell carcinomas from basal cell nevus syndrome patients von Bonifas, J. M., Bare, J. W., Kerschmann, R. L., Master, S. P., Epstein, E. H.

Volltext

Partial Dominance of a Keratin 14 Mutation in Epidermolysis Bullosa Simplex — Increased Severity of Disease in a Homozygote von Hu, ZhiLan, Smith, Lynne, Martins, Sarita, Bonifas, Jeannette M., Chen, Hua, Epstein, Ervin H.

Volltext

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis von Loh, Mignon L., Vattikuti, Shashaank, Schubbert, Suzanne, Reynolds, Melissa G., Carlson, Elaine, Lieuw, Kenneth H., Cheng, Jennifer W., Lee, Connie M., Stokoe, David, Bonifas, Jeannette M., Curtiss, Nicole P., Gotlib, Jason, Meshinchi, Soheil, Le Beau, Michelle M., Emanuel, Peter D., Shannon, Kevin M.

Volltext

Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin von Bonifas, Jeannette M, Bare, John W, Chen, Marisa A, Ranki, Annamari, Neimi, Kirsti-Maria, Epstein, Ervin H

Volltext

Biochemical Identification of Alpha-Fodrin and Protein 4.1 in Human Keratinocytes von Mutha, Sandesh, Langston, Alexander, Bonifas, Jeannette M, Epstein, Ervin H

Volltext

Linkage of the Epidermolytic Hyperkeratosis Phenotype and the Region of the Type II Keratin Gene Cluster on Chromosome 12 von Bonifas, Jeannette M, Bare, John W, Chen, Marisa A, Lee, Ming K, Slater, Cathy A, Goldsmith, Lowell A, Epstein, Ervin H

Volltext

Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein von EPSTEIN, E. H. JR, BONIFAS, J. M

Volltext

Cholesterol Sulfotransferase of Newborn Mouse Epidermis von Epstein, Ervin H., Bonifas, Jeannette M., Barber, Thomas C., Haynes, Mathew

Volltext