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
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
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
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
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
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
Publikováno v:
Clinical Genetics; Aug1974, Vol. 6 Issue 2, p132-137, 6p
Publikováno v:
Pigment Cell Research. 1:88-100
Ten phenotypic forms of oculocutaneous albinism (OCA) and four forms of ocular albinism (OA) have been identified in man. All have optic neuronal decussation defects at the optic chiasm. Thus any proposed animal model for these disorders must share o
Publikováno v:
Journal of Investigative Dermatology. 64:332-337
Anagen hair bulbs were collected and maintained in organ culture for periods up to 24 hr. Prostaglandin E1, E2, and arachidonate were introduced to the cultures and stimulated a series of cellular events characterized by peripheral orientation of mic