Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Carl J. Witkop"'
Autor:
B. Nijmeijer, Carl J. Witkop, J. W. N. Akkerman, James G. White, S. M. Gerritsen, J. J. Sixma
Publikováno v:
Scandinavian Journal of Haematology. 18:249-256
A Dutch kindred with the Hermansky-Pudlak syndrome (HPS) is described. We show for the first time evidence of a lowered platelet 5-hydroxytryptamine content in obligate heterozygotes. Platelet ATP and ADP levels and ATP/ADP ratio were normal in these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d2e00b16dafd8fc0945854c8664a63c
https://doi.org/10.1111/j.1600-0609.1977.tb02337.x
https://doi.org/10.1111/j.1600-0609.1977.tb02337.x
Publikováno v:
Clinical Genetics. 15:17-21
The prevalence of squamous cell carcinoma of the skin in albinos reaches approximately 90 % in patients over 20 years of age in the vicinity of Enugu, Nigeria. Chromosome breaks and sister chromatid exchanges (SCE) were evaluated in tyrosinase-positi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e909e76e80b8b410a1c38af61c28c64
https://doi.org/10.1111/j.1399-0004.1979.tb02024.x
https://doi.org/10.1111/j.1399-0004.1979.tb02024.x
Publikováno v:
Clinical Genetics. 17:259-270
Seventy-nine Nigerian oculocutaneous albinos were investigated. Fifty-six had typical tyrosinase-positive albinism (TPA) and 23 had brown albinism (BA), a new oculocutaneous type. The TPA were characterized by localized but no generalized skin pigmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fd12ca16e9baf08dfe9da4a0bb2306
https://doi.org/10.1111/j.1399-0004.1980.tb00145.x
https://doi.org/10.1111/j.1399-0004.1980.tb00145.x
Autor:
Susan Castronuovo, Carl J. Witkop, Bruce Wolf, John W. Simon, Paul L. Jenkins, Albert M. Morier, Gillray L. Kandel
Publikováno v:
American Journal of Ophthalmology. 111:419-426
We studied the albinotic characteristics in 13 members of a white family (age range, 2 to 73 years), which were graded according to severity and were correlated with visual acuity. Clinical, electrophysiologic, and biochemical characteristics of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d61bfdd0ce0f21df63f55921b4b6a5
https://doi.org/10.1016/s0002-9394(14)72374-8
https://doi.org/10.1016/s0002-9394(14)72374-8
Autor:
E. J. Walter Bowie, Marlys D. Krumwiede, Elizabeth A. Plumhoff, James G. White, Carl J. Witkop, Jane Swanson
Publikováno v:
American journal of hematology. 44(4)
A study of 565 Puerto Rican patients with storage pool deficient (SPD) Hermansky-Pudlak syndrome (HPS) demonstrated that most HPS patients had minor bleeding episodes while others had repeated, severe hemorrhagic episodes requiring transfusion. The s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96944da34e2f18b1cafc2fc8ab0e8aa7
https://pubmed.ncbi.nlm.nih.gov/8237996
https://pubmed.ncbi.nlm.nih.gov/8237996
We have determined a molecular defect to be the likely basis for inactivity of the tyrosinase (EC 1.14.18.1) from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene follow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4f1f349ea3789ab794c2c4e306f333
https://europepmc.org/articles/PMC51854/
https://europepmc.org/articles/PMC51854/
Publikováno v:
Journal of Dermatological Science. 6:37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11f678e883e16dcacfe14c883e7bf815
https://doi.org/10.1016/0923-1811(93)90935-i
https://doi.org/10.1016/0923-1811(93)90935-i
Publikováno v:
Clinical Genetics; Aug1974, Vol. 6 Issue 2, p132-137, 6p
Publikováno v:
Oral Surgery, Oral Medicine, Oral Pathology. 39:71-86
A syndrome consisting of a hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, seborrheic dermatitis of the scalp, and hypofunction of the sweat glands with rough dry skin is inherited as an autosomal dominant trait in a kind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb16997ae11c82c61e24fd2b28f328f5
https://doi.org/10.1016/0030-4220(75)90398-9
https://doi.org/10.1016/0030-4220(75)90398-9
Autor:
James G. White, Leonhard S. Wolfe, Carl J. Witkop, DeWayne Townsend, Kathleen M. Keenan, Stanley X. Cal
Publikováno v:
The American Journal of Medicine. 82:463-470
The Hermansky-Pudlak syndrome, a triad of albinism, platelets lacking dense bodies, and storage of ceroid-like material in tissues, occurs approximately once in 2,000 northwestern Puerto Ricans. The manifestations of storage disease are variable and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d14de57dda77f57b2d5efea173e170a8
https://doi.org/10.1016/0002-9343(87)90446-3
https://doi.org/10.1016/0002-9343(87)90446-3