Zobrazeno 1 - 10
of 27
pro vyhledávání: '"P D Maaswinkel-Mooy"'
Autor:
Ernest K. J. Pauwels, R. P. L. M. Hoogma, A. G. L. van der Mey, T. H. M. Falke, Lodewijk A. Sandkuijl, A. P. G. Van Gils, P. D. Maaswinkel-Mooy
Publikováno v:
British Journal of Cancer
Paragangliomas of the head and neck (glomus tumours) can occur in a hereditary pattern and may be hormonally active as well as being associated with paragangliomas elsewhere. A number of these tumours may be present without symptoms. To detect the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7104ba1c0962d992b0a6381c6cfcaaed
https://doi.org/10.1038/bjc.1992.189
https://doi.org/10.1038/bjc.1992.189
Publikováno v:
Journal of Neurology. 239:107-111
A large family with adrenoleukodystrophy is described and the case histories of two clinically symptomatic and related male patients are presented. Clinical, biochemical and genetic screening of their family demonstrated two clinically affected males
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745aeb07c0dade45fa3a88a148d28970
https://doi.org/10.1007/bf00862985
https://doi.org/10.1007/bf00862985
Autor:
H.H. Ropers, W. Tünte, A. J. M. Hoogeboom, P. D. Maaswinkel-Mooy, Jan A.J.M. Bakkeren, B.A. van Oost, B.C.J. Hamel, P. M. van Zandvoort, H.G. Brunner
Publikováno v:
Human Genetics. 86:404-407
We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21831dfb38cf1b8a09878a863cb885ce
https://doi.org/10.1007/bf00201845
https://doi.org/10.1007/bf00201845
Autor:
E. A. Landsmeer-Beker, J. J. P. van de Kamp, G. G. Massa, S. E. Papapoulos, P. D. Maaswinkel-Mooy
Publikováno v:
European Journal of Pediatrics. 156:792-794
Osteoporosis is an important feature of osteogenesis imperfecta (OI). So far, no effective medical treatment is available. We treated three boys with severe OI type III and vertebral deformities for 5-7 years with continuous oral administration of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c63944155469eab1f24fcf404334467b
https://doi.org/10.1007/s004310050715
https://doi.org/10.1007/s004310050715
Autor:
B van Hoek, Joachim J. Schweizer, Martin N. J. M. Wasser, R A de Moor, P D Maaswinkel-Mooy, R Vink
A 13 year old patient with juvenile type IV glycogen storage disease died of the complications of hepatocellular carcinoma. To our knowledge this is the first reported case of hepatocellular carcinoma in association with type IV glycogen storage dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70e7b7c0d4b8dcaabc750b1011e6a9c7
https://europepmc.org/articles/PMC1718356/
https://europepmc.org/articles/PMC1718356/
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 143(13)
Metabolic acidosis occurs frequently in small children. The most common causes are hypoxia, sepsis, gastroenteritis and hypovolaemia. Calculation of the anion gap is useful in establishing the cause. An increased anion gap represents unmeasured anion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dff4e3ce9bfffd02577ba8dded0ec0eb
https://pubmed.ncbi.nlm.nih.gov/10321298
https://pubmed.ncbi.nlm.nih.gov/10321298
Autor:
P D Maaswinkel-Mooy, O F Brouwer, E J Lommen, P X Bouckaert, C.E.M. de Die-Smulders, Raoul C.M. Hennekam, J. P. Fryns, Constance T.R.M. Schrander-Stumpel, J J da Costa
Publikováno v:
Journal of medical genetics, 29(5), 326-331. BMJ Publishing Group
We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8bd8e42aecd24e382697a11a854b46e
https://pure.amc.nl/en/publications/oculoauriculovertebral-spectrum-and-cerebral-anomalies(4c5184bd-3890-4973-b38f-13f76e882df6).html
https://pure.amc.nl/en/publications/oculoauriculovertebral-spectrum-and-cerebral-anomalies(4c5184bd-3890-4973-b38f-13f76e882df6).html
Autor:
J. A. Oosterhuis, C. W. J. M. Storimans, P. J. M. Bos, P. D. Maaswinkel-Mooy, M. J. Van Schooneveld
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 75(3-4)
We describe a new hereditary syndrome with an autosomal dominant mode of inheritance, with vascular retinopathy, migraine and Raynaud's phenomenon as the most striking features. The retinopathy is characterized by tortuosity and variable caliber of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2e4603f8ada423c9a46211915c46651
https://pubmed.ncbi.nlm.nih.gov/2090400
https://pubmed.ncbi.nlm.nih.gov/2090400
Autor:
R H, van Beek, P D, Maaswinkel-Mooy
Publikováno v:
Tijdschrift voor kindergeneeskunde. 58(3)
A female newborn is reported with focal dermal hypoplasia (Goltz-Gorlin syndrome) presenting multiple skin and extremity-abnormalities. A short review of today's literature in relation to mode of inheritance and clinical manifestations is given.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::29e36bb3eff813326c21be3defe674e2
https://pubmed.ncbi.nlm.nih.gov/2165282
https://pubmed.ncbi.nlm.nih.gov/2165282
Publikováno v:
Journal of Medical Genetics. 26:274-276
A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42b99736a8620c2c4d167cb053f7fdf
https://doi.org/10.1136/jmg.26.4.274
https://doi.org/10.1136/jmg.26.4.274