Výsledky vyhledávání - "J J, DiGiovanna"

From vitamin to Vesanoid: systemic retinoids for the new millennium

Autor: P E, Kerr, J J, DiGiovanna

Publikováno v: Medicine and health, Rhode Island. 84(7)

Retinoids are a fascinating class of compounds that exert control over cellular function from the time of conception to death. They play a critical role in such vital processes as fetal morphogenesis, cellular differentiation and apoptosis. Over the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::619570521f5439f9f3d096b6316a0772
https://pubmed.ncbi.nlm.nih.gov/11482276

Zobrazit plný text záznamu

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

Autor: V E, Kimonis, A M, Goldstein, B, Pastakia, M L, Yang, R, Kase, J J, DiGiovanna, A E, Bale, S J, Bale

Publikováno v: American journal of medical genetics. 69(3)

Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::03089713887ed0bef3ccb67d626632bf
https://pubmed.ncbi.nlm.nih.gov/9096761

Zobrazit plný text záznamu

Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction

Autor: J F, Korczak, J S, Brahim, J J, DiGiovanna, R G, Kase, L H, Wexler, A M, Goldstein

Publikováno v: American journal of medical genetics. 69(3)

We present an 8-year-old African-American boy with medulloblastoma and nevoid basal cell carcinoma syndrome (NBCCS) who exhibited the radiosensitive response of basal cell carcinoma (BCC) formation in the area irradiated for medulloblastoma. Such a r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::527802907c08ee01aecbdcaa0b967d99
https://pubmed.ncbi.nlm.nih.gov/9096762

Zobrazit plný text záznamu

Genetic approaches to understanding the keratinopathies

Autor: S J, Bale, J J, DiGiovanna

Publikováno v: Advances in dermatology. 12

Genetic methods (both statistical and laboratory based), along with close clinical scrutiny, have led to the recent discovery that abnormal keratin genes underlie several disorders of cornification (Table 3). The ability to classify diseases based on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8f8ed7a0144d85f04d72c461be588de0
https://pubmed.ncbi.nlm.nih.gov/8973737

Zobrazit plný text záznamu

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients

Autor: A, Chidambaram, A M, Goldstein, M R, Gailani, B, Gerrard, S J, Bale, J J, DiGiovanna, A E, Bale, M, Dean

Publikováno v: Cancer research. 56(20)

The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, ske

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::476b872e8c7a9074c8d20b00dd326a72
https://pubmed.ncbi.nlm.nih.gov/8840969

Zobrazit plný text záznamu

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

Autor: C C, Chipev, J M, Yang, J J, DiGiovanna, P M, Steinert, L, Marekov, J G, Compton, S J, Bale

Publikováno v: American journal of human genetics. 54(2)

Epidermolytic hyperkeratosis (EH) is a rare autosomal dominant skin disease. Recent studies in our laboratory established genetic linkage to the type II keratin gene locus on chromosome 12q in one family with EH and identified a single amino acid mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57a1702f800bbd6bdb70a10f2e8276e1
https://pubmed.ncbi.nlm.nih.gov/7508181

Zobrazit plný text záznamu

Epidermolytic hyperkeratosis

Autor: S J, Bale, J G, Compton, J J, DiGiovanna

Publikováno v: Seminars in dermatology. 12(3)

Epidermolytic hyperkeratosis (EHK) is a congenital autosomal dominant ichthyosis. The disorder is characterized by blistering, especially at birth and during childhood, and hyperkeratosis. EHK presents striking clinical heterogeneity, particularly re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b97c5fc66548c70d303e102506a3f73f
https://pubmed.ncbi.nlm.nih.gov/7692917

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání