Zobrazeno 1 - 8
of 8
pro vyhledávání: '"J T, Celebi"'
Publikováno v:
Clinical and experimental dermatology. 28(5)
Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8 qter, and recently mutations in the ARS (component B) gene have been identified in families with this disorder. We describe a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb6f5889ff21d111408714ca892973a2
https://pubmed.ncbi.nlm.nih.gov/12950349
https://pubmed.ncbi.nlm.nih.gov/12950349
Publikováno v:
Clinical and experimental dermatology. 28(5)
Brooke-Spiegler syndrome is an autosomal dominantly inherited disease with predisposition to neoplasms of the skin appendages. The disease has been mapped to 16q, and mutations in the CYLD gene have been identified in families with this disorder. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06b98c123a1b3dcf8fe38b66d99ef198
https://pubmed.ncbi.nlm.nih.gov/12950348
https://pubmed.ncbi.nlm.nih.gov/12950348
Publikováno v:
Clinical and experimental dermatology. 28(4)
Pachyonychia congenita is characterized by hypertrophic nail dystrophy and associated ectodermal features. PC-1 subtype is associated with mutations in keratins 6a or 16, whereas PC-2 subtype is linked to mutations in keratins 6b or 17. The correlati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f4f60eaec85c27b5a7e984b91b4099e7
https://pubmed.ncbi.nlm.nih.gov/12823309
https://pubmed.ncbi.nlm.nih.gov/12823309
Autor:
J. T. Celebi
Publikováno v:
AACR Education book. 2012:33-34
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd262244e1dde687b2c0c26ae88e4cb9
https://doi.org/10.1158/aacr.edb-12-8468
https://doi.org/10.1158/aacr.edb-12-8468
Publikováno v:
Experimental dermatology. 9(2)
Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by hamartomas in a variety of tissues including the skin, thyroid, breast, endometrium, and the brain. Individuals with CS are predisposed to development of malignancy in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04c0b813fed8e5485b85ced1bcfa4d19
https://pubmed.ncbi.nlm.nih.gov/10772390
https://pubmed.ncbi.nlm.nih.gov/10772390
Publikováno v:
The Journal of investigative dermatology. 113(5)
Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::67a6662f031532cd7cf35bc8b0d6d5a3
https://pubmed.ncbi.nlm.nih.gov/10571744
https://pubmed.ncbi.nlm.nih.gov/10571744
Publikováno v:
Journal of medical genetics. 36(5)
Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e46fc5a29449d642d7e19d175ddbc58
https://pubmed.ncbi.nlm.nih.gov/10353779
https://pubmed.ncbi.nlm.nih.gov/10353779
Autor:
J. T. Celebi
Publikováno v:
Archives of Dermatology. 138:1388-1388
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cea468b2618c06c888573f623bc47a7f
https://doi.org/10.1001/archderm.138.10.1388
https://doi.org/10.1001/archderm.138.10.1388