Výsledky vyhledávání

Identification of PTEN mutations in five families with Bannayan-Zonana syndrome

Autor: J. Tok Çelebi, Xiao Li Ping, Fei Fei Chen, Hong Zhang, Hui C. Tsou, Monica Peacocke

Publikováno v: Experimental dermatology. 8(2)

Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab240694e0b79cf9d8060d83aaeb4ae8
https://pubmed.ncbi.nlm.nih.gov/10232405

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Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis

Autor: Angela M. Christiano, J. L. Spitz, J. Tok, Maria C. Garzon, HaMut Lam, P. B. Cserhalmi-Friedman

Publikováno v: Experimental dermatology. 8(2)

Lamellar ichthyosis (LI) is an autosomal recessive disorder of cornification. Mutations in the transglutaminase 1 gene (TGM1) have been identified in several families with this disorder. We analyzed two unrelated families with offspring affected with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e83030fc436c59576b4a6a207f99e87
https://pubmed.ncbi.nlm.nih.gov/10232404

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Cutaneous metastasis from a parotid adenocarcinoma. Report of a case with immunohistochemical findings and review of the literature

Autor: J, Tok, G F, Kao, B J, Berberian, V I, Sulica, D, Heffner

Publikováno v: The American Journal of dermatopathology. 17(3)

We present a rare case of metastatic adenocarcinoma of the parotid gland to the skin. Reviewing the histologic features of the primary parotid gland and comparing the microscopic sections and immunohistochemical studies, we concluded the skin tumor t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::98649449a940ca3b5b6256fca2b176a5
https://pubmed.ncbi.nlm.nih.gov/8599442

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Unilateral nevoid telangiectasia syndrome

Autor: J, Tok, B J, Berberian, V I, Sulica

Publikováno v: Cutis. 53(1)

Unilateral nevoid telangiectasia syndrome can be classified into two major categories: congenital and acquired. There have been reports showing an increase in skin estrogen and progesterone receptors in patients with this syndrome. We report a case o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::724cc1cd3df077c63a8a5ad8a25e1b2f
https://pubmed.ncbi.nlm.nih.gov/8119080

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020��Adult onset erythropoietic protoporphyria in association with myelodysplastic syndrome

Autor: Vincent A. DeLeo, J. Tok, S. Nimmer, K. Zug, C. Thornton Spann

Publikováno v: Photodermatology, Photoimmunology & Photomedicine. 18:107-107

Erythropoletic Protoporphyria (EPP) is normally a disease of childhood that has an autosomal dominant inheritance pattern. The mean age of onset is 4 years and it is characterized by variable photosensitivity caused by a defect in the ferrocheletase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33f32e19ea4f845c72546122ff320e7a
https://doi.org/10.1034/j.1600-0781.2002.180208_20.x

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