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Initiating and potentiating role of platelets in tissue factor-induced thrombin generation in the presence of plasma

Autor: Marion A.H. Feijge, H.C. Hemker, Peter Giesen, R. J. W. Van Kampen, H. Kenis, Kristof Vanschoonbeek, Johan W. M. Heemskerk

Publikováno v: Journal of Thrombosis and Haemostasis, 2(3), 476-484. Wiley

The hemostatic activity of plasma is determined by platelet activation and coagulation, which processes are mutually stimulatory. We studied this interaction by measuring the cleavage of fluorescent thrombin substrate in platelet-rich plasma (PRP), u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32d1b86dc38dc491c1c1c65b7a12fce
https://doi.org/10.1111/j.1538-7933.2004.00618.x

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Segmentary fibrous dysplasia manifesting as macrodactyly

Autor: K, Keymolen, L, De Smet, H, Kenis, J P, Fryns

Publikováno v: Genetic counseling (Geneva, Switzerland). 10(4)

In this report we describe the unusual manifestation of fibrous dysplasia of rays IV and V of the right hand and of rays III-IV of the left hand in a 12-year-old normal girl. The first symptoms of localised macrodactyly became progressively evident f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8ce9c73cae081080138d263a092158a3
https://pubmed.ncbi.nlm.nih.gov/10631925

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A specific phenotype associated with trisomy 15 mosaicism

Autor: J P, Fryns, A, Kleczkowska, L, Lagae, H, Kenis, H, van den Berghe

Publikováno v: Annales de genetique. 36(2)

In this report the authors describe the phenotype of a female newborn with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX). Comparison with the two other patients with trisomy 15 mosaicism reported up to now, reveals a distinct pheno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8879d8a0536b2427cac683de17c037f1
https://pubmed.ncbi.nlm.nih.gov/8215220

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De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy

Autor: J P, Fryns, A, Kleczkowska, H, Kenis

Publikováno v: Annales de genetique. 27(1)

A severely mentally retarded boy with a de novo, apparently balanced complex chromosomal rearrangement (CCR) of autosomes 2, 14 and 21 is described. This rearrangement involved one reciprocal and one insertional translocation with four breakpoints fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::367b0ea3b8020736ef10a70e96779573
https://pubmed.ncbi.nlm.nih.gov/6609678

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Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype

Autor: J P, Fryns, A, Kleczkowska, H, Kenis, P, Decock, H, Van den Berghe

Publikováno v: Annales de genetique. 32(3)

In this report we describe a 3-year-old boy with partial trisomy of the short arm of chromosome 2 due to a de novo tandem duplication 2(dup(2)(p13----p21)). In addition to severe growth retardation and moderate psychomotor delay he presented a dysmor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::292259eaad5efee65289756dd5264eca
https://pubmed.ncbi.nlm.nih.gov/2573314

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