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of 345
pro vyhledávání: '"J, Toonstra"'
Autor:
Marijke R. van Dijk, Arthur A.B. Bergen, Paulus T. V. M. de Jong, Astrid S. Plomp, J. Toonstra
Publikováno v:
American Journal of Medical Genetics A, 152A, 1049-1058. Wiley-Liss Inc.
Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most markedly in skin, retina, and blood vessels. It is caused by mutations in the ABCC6 gene and is transmitted in an autosomal recessive fashion. In 1994 a new classifi
Autor:
Marijke R. van Dijk, Sharon F. Terry, Ralph J. Florijn, Arthur A.B. Bergen, Paulus T. V. M. de Jong, J. Toonstra, Astrid S Plomp
Publikováno v:
Genetics in medicine, 11(12), 852-858. Lippincott Williams and Wilkins
Purpose: Pseudoxanthoma elasticum is an autosomal recessive disorder of elastic tissue in the skin, eyes, and cardiovascular system, caused by mutations in the ABCC6 gene. The purpose of this study was to check variability in expression within one ge
Autor:
J. Toonstra
Publikováno v:
Bijblijven. 23:48-56
In dit artikel worden enkele huidaandoeningen besproken die relatief weinig voorkomen en, doordat ze zich onder verschillende beelden kunnen presenteren, vaak moeilijk te herkennen zijn: erythema exsudativum multiforme, erythema nodosum, lichen planu
Autor:
J. Toonstra, Rik J. Scheper, Theo G. M. F. Gorgels, Xiaofeng Hu, Paulus T. V. M. de Jong, W. Loves, Toin H. van Kuppevelt, Arthur A.B. Bergen, Christiaan N. Levelt, Anneke de Wolf, Allard C. van der Wal, Ron Peek, George L. Scheffer
Publikováno v:
Human molecular genetics, 14(13), 1763-1773. Oxford University Press
Human Molecular Genetics, 14, 13, pp. 1763-73
Human Molecular Genetics, 14, 1763-73
Human Molecular Genetics, 14, 13, pp. 1763-73
Human Molecular Genetics, 14, 1763-73
Contains fulltext : 32422.pdf (Publisher’s version ) (Closed access) Pseudoxanthoma elasticum (PXE) is a heritable disorder of connective tissue, affecting mainly skin, eye and the cardiovascular system. PXE is characterized by dystrophic mineraliz
Autor:
W. A. van Vloten, T. Thepen, Vigfús Sigurdsson, I. C. Bihari, Carla A.F.M. Bruijnzeel-Koomen, J. Toonstra
Publikováno v:
Journal of Cutaneous Pathology. 27:429-435
BACKGROUND Erythroderma, or generalized erythema of the skin, may result from different causes. At present it is unclear whether the underlying patho-mechanisms that lead to erythroderma are identical or different depending on the original disease. T
Publikováno v:
British Journal of Dermatology. 141:1136-1152
Autor:
J. Toonstra, C.L.M. van Hees, C. W. van Haselen, J.J.M. van Dongen, W. A. van Vloten, S.J.C. van der Putte
Publikováno v:
Dermatology. 196:382-391
Purpose: Granulomatous slack skin (GSS) is a rare cutaneous disorder characterized clinically by the evolution of circumscribed erythematous lax skin masses, especially in the body folds, and histologically by a granulomatous T-cell infiltrate and lo
Autor:
J. Toonstra, Ron Tupker
Publikováno v:
BMJ case reports. 2013
A 33-year-old woman presented with a 4-week history of a painless swelling of her left ear. She denied a blunt trauma or a freezing episode. There was no local redness or suppuration, and no problems in joint. Her medical history was unremarkable, ex
Publikováno v:
Journal of the American Academy of Dermatology. 35:53-57
Background: Erythroderma may result from different causes. There have been no publications on this subject with special emphasis on survival. Objective: The aim of the study was to determine the cause of the erythroderma and the prognosis of these pa