Zobrazeno 1 - 10 of 108 pro vyhledávání: '"DIJKSTRA, PF"'
1
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
Autor: Kate Lp, Kuijpers Gm, Dijkstra Pf, Van Bever Y, Ausems Mg, Terhal Pa
Publikováno v: Journal of Medical Genetics. 37:719-721
Editor—The ear, patella, short stature syndrome (EPS or Meier-Gorlin syndrome) is a rare disorder characterised by microtia, absent or hypoplastic patellae, and proportionate pre- and postnatal growth retardation. In 1994, published reports of the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fbbdfef970f81e72d9328654908c04
https://doi.org/10.1136/jmg.37.9.719
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2
Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias
Autor: Morstert, AK, Dijkstra, PF, van Horn, [No Value], Jansen, BRH, Heutink, P, Lindhout, D
Publikováno v: Röfo-Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren, 174(7), 887-892. Thieme
Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods:
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::f3e048c5b659a3044c41b4ccc9b645b7
https://research.rug.nl/en/publications/17bfc4f5-669e-40f5-bcac-c5ed9b7deeaa
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4
Sulfasalazine in the treatment of juvenile chronic arthritis - A randomized, double-blind, placebo-controlled, multicenter study
Autor: Fiselier, TJW, Franssen, MJAM, Zwinderman, AH, ten Cate, R, van Suijlekom-Smit, LWA, van Luijk, WHJ, van Soesbergen, RM, Wulffraat, NM, Oostveen, JCM, Kuis, W, Dijkstra, PF, van Ede, CFP, Dijkmans, BAC
Publikováno v: ARTHRITIS AND RHEUMATISM, 41(5), 808-816. John Wiley and Sons Inc.
Objective. To assess the efficacy, tolerability, and safety of sulfasalazine (SSZ) in the treatment of juvenile chronic arthritis (JCA). Methods. we conducted a 24-week randomized, placebo-controlled, double-blind, multicenter study of patients with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::6843ee5eaa9ff11f9891e7e54d3ef594
https://research.rug.nl/en/publications/c66371be-8c51-4a19-a7be-d7cb8f094742
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7
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation
Autor: Dicky J. J. Halley, Ben A. Oostra, Dijkstra Pf, Jaap van Doorn, Bert B.A. de Vries, Irene Stolte-Dijkstra, Martinus F. Niermeijer, Cecil V Tjon Pian Gi, Gillian M. Turner, Hazel Robinson
Publikováno v: Journal of medical genetics. 32(10)
The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We describe four fragile X patients with general overgrowth, all of whom are from families with o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0004f142985295a50a20904c39b0eac
https://pubmed.ncbi.nlm.nih.gov/8558551
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8
GENERAL OVERGROWTH IN THE FRAGILE-X SYNDROME - VARIABILITY IN THE PHENOTYPIC-EXPRESSION OF THE FMR1 GENE MUTATION
Autor: DEVRIES, BBA, ROBINSON, H, STOLTEDIJKSTRA, [No Value], GI, CVTP, DIJKSTRA, PF, VANDOOM, J, HALLEY, DJJ, OOSTRA, BA, TURNER, G, NIERMEIJER, MF
Publikováno v: JOURNAL OF MEDICAL GENETICS, 32(10), 764-769. BMJ PUBLISHING GROUP
The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We describe four fragile X patients with general overgrowth, all of whom are from families with o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::536d0a8dc55e17b5bcde52731eee9c22
https://research.rug.nl/en/publications/092f7724-396d-42f0-aec8-a0f24b4c0916
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9
The prenatal development of the normal human skeleton: a combined ultrasonographic and post-mortem radiographic study
Autor: N. W. Schipper, Chris J.L.M. Meijer, H. J. van der Harten, Dijkstra Pf, H.P. van Geijn, J.T.J. Brons
Publikováno v: Pediatric radiology. 21(1)
Post-mortem radiography of fetuses with skeletal dysplasia is essential for diagnostic classification. Interpretation of the radiographs should be based on the knowledge of morphology and dimensions of the normal skeleton in all stages of development
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b4dad973250cabde8196e7693c1d57
https://pubmed.ncbi.nlm.nih.gov/2287542
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10
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