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Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris.
Published in:
British Journal of Dermatology, 2014, v. 170, n. 5, p. 1196, doi. 10.1111/bjd.12799
By:
- Eytan, O.;
- Qiaoli, L.;
- Nousbeck, J.;
- Steensel, M.A.M.;
- Burger, B.;
- Hohl, D.;
- Taïeb, A.;
- Prey, S.;
- Bachmann, D.;
- Avitan‐Hersh, E.;
- Jin Chung, H.;
- Shemer, A.;
- Trau, H.;
- Bergman, R.;
- Fuchs‐Telem, D.;
- Warshauer, E.;
- Israeli, S.;
- Itin, P.H.;
- Sarig, O.;
- Uitto, J.
Publication type:
Article
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.
Published in:
British Journal of Dermatology, 2011, v. 164, n. 6, p. 1390, doi. 10.1111/j.1365-2133.2011.10252.x
By:
- Samuelov, L.;
- Fuchs-Telem, D.;
- Sarig, O.;
- Sprecher, E.
Publication type:
Article
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
Published in:
British Journal of Dermatology, 2011, v. 164, n. 3, p. 610, doi. 10.1111/j.1365-2133.2010.10133.x
By:
- Fuchs-Telem, D.;
- Stewart, H.;
- Rapaport, D.;
- Nousbeck, J.;
- Gat, A.;
- Gini, M.;
- Lugassy, Y.;
- Emmert, S.;
- Eckl, K.;
- Hennies, H.C.;
- Sarig, O.;
- Goldsher, D.;
- Meilik, B.;
- Ishida-Yamamoto, A.;
- Horowitz, M.;
- Sprecher, E.
Publication type:
Article
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.
Published in:
Clinical & Experimental Dermatology, 2014, v. 39, n. 3, p. 361, doi. 10.1111/ced.12222
By:
- Fuchs‐Telem, D.;
- Nousbeck, J.;
- Singer, A.;
- McGrath, J. A.;
- Sarig, O.;
- Sprecher, E.
Publication type:
Article
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Published in:
Clinical & Experimental Dermatology, 2013, v. 38, n. 8, p. 911, doi. 10.1111/ced.12148
By:
- Israeli, S.;
- Goldberg, I.;
- Fuchs ‐ Telem, D.;
- Bergman, R.;
- Indelman, M.;
- Bitterman ‐ Deutsch, O.;
- Harel, A.;
- Mashiach, Y.;
- Sarig, O.;
- Sprecher, E.
Publication type:
Article
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.
Published in:
Clinical & Experimental Dermatology, 2013, v. 38, n. 2, p. 189, doi. 10.1111/ced.12059
By:
- Fuchs‐Telem, D.;
- Padalon‐Brauch, G.;
- Sarig, O.;
- Sprecher, E.
Publication type:
Article
Molecular evidence for the role of X-chromosome inactivation in linear presentation of X-linked hypohidrotic ectodermal dysplasia.
Published in:
Clinical & Experimental Dermatology, 2012, v. 37, n. 2, p. 186, doi. 10.1111/j.1365-2230.2011.04135.x
By:
- Pavlovsky, M.;
- Fuchs-Telem, D.;
- Nousbeck, J.;
- Sarig, O.;
- Sprecher, E.
Publication type:
Article
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
Published in:
Clinical & Experimental Dermatology, 2011, v. 36, n. 4, p. 406, doi. 10.1111/j.1365-2230.2010.03986.x
By:
- Fuchs-Telem, D.;
- Pessach, Y.;
- Mevorah, B.;
- Shirazi, I.;
- Sarig, O.;
- Sprecher, E.
Publication type:
Article

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