Zobrazeno 1 - 10
of 16
pro vyhledávání: '"J. W. E. Oorthuys"'
Publikováno v:
Clinical Genetics. 35:446-449
This report describes a non-retarded human male, mosaic for a 47,XY, + 8 and a 48,XXYY cell line. The 47,XY, + 8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa07ee364cdf7bdf1aa366f723a1c4a
https://doi.org/10.1111/j.1399-0004.1989.tb02970.x
https://doi.org/10.1111/j.1399-0004.1989.tb02970.x
Publikováno v:
Clinical Genetics. 20:130-134
A patient with several cogenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46,X,der(X),t,X;3)(Xqter leads to p21::3q12 leads to 3qter). A comparison of the clinical and cytogenetical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9499ac9ab752a35b029a3d2bbabc3b
https://doi.org/10.1111/j.1399-0004.1981.tb01817.x
https://doi.org/10.1111/j.1399-0004.1981.tb01817.x
Autor:
H. W. Venema, T. R. P. Cole, J. W. E. Oorthuys, R. E. T. Nocker, J. Oosting, Piet F. Dijkstra
Publikováno v:
American journal of medical genetics, 51(1), 55-60. Wiley-Liss Inc.
Patients with Sotos and Marfan syndrome have unusually long metacarpals and phalanges which may make the differential diagnosis difficult in younger children. Using Q-scores, we compared metacarpophalangeal pattern profile (MCPP) analysis in these tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d6e10eb6d7d6140e33d621dac8cb59
https://doi.org/10.1002/ajmg.1320510113
https://doi.org/10.1002/ajmg.1320510113
Autor:
Raoul C. M. Hennekam, Yolande van Bever, Johanna W. E. Oorthuys, R. C. M. Hennekam, J. W. E. Oorthuys
Publikováno v:
European journal of pediatrics, 155(4), 311-314. Springer Verlag
We report on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint stiffness, mild aortic and mitral valve insufficiency, and normal intelligence. These features are compatible with the diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62f7dddbe23cac8601a45fd8ddda97f5
https://pubmed.ncbi.nlm.nih.gov/8777926
https://pubmed.ncbi.nlm.nih.gov/8777926
Autor:
Ruud B.H. Schutgens, Frits A. Wijburg, M. K. Sanders, L. G. F. M. van't Hek, J. W. E. Oorthuys, B. J. H. M. Poorthuis, D. S. Rosenblatt, G. D. Vos
Publikováno v:
European journal of pediatrics, 151(2), 127-131. Springer Verlag
Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::275c9c07e82ed6fcc4e03e10bc667ea6
https://pubmed.ncbi.nlm.nih.gov/1537354
https://pubmed.ncbi.nlm.nih.gov/1537354
Publikováno v:
Stroke. 21(4)
We describe two patients with cerebrovascular complications of Ehlers-Danlos syndrome type IV. A 16-year-old girl with spontaneous internal carotid artery dissection and a 46-year-old woman with aneurysmal subarachnoid hemorrhage and multiple aortic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7484fef8612e2abeb5553411a82ce74
https://pubmed.ncbi.nlm.nih.gov/1987666
https://pubmed.ncbi.nlm.nih.gov/1987666
Autor:
J. M. Wit, P. F. Dijkstra, Frits A. Beemer, J. W. E. Oorthuys, N. J. Leschot, J.L. Van den Brande, Peter G. Barth
Publikováno v:
European journal of pediatrics, 144(2), 131-140. Springer Verlag
An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolesc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef5eb2ef5edd76316724d15d498210e
https://doi.org/10.1007/bf00451898
https://doi.org/10.1007/bf00451898
Autor:
H. S. A. Heymans, J. W. E. Oorthuys, G. Nelck, R. J. A. Wanders, K. P. Dingemans, R. B. H. Schutgens
Publikováno v:
Journal of Inherited Metabolic Disease. 9:329-331
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd5aa8a5626538712ebde095627818f4
https://doi.org/10.1007/bf01799743
https://doi.org/10.1007/bf01799743
Autor:
R. J. A. Wanders, Ruud B.H. Schutgens, D. H. Loewer-Sieger, J. W. E. Oorthuys, Hugo S. A. Heymans, E. M. Bleeker-Wagemakers
Publikováno v:
Ophthalmic paediatrics and genetics, 8(3), 183-185. Aeolus Press
The rhizomelic type of chondrodysplasia punctata (RCDP) is recognizable at birth because of the typical phenotype and radiological features. Most patients die young, some survive until their teens but all are severely retarded. Recent studies showed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71a9f89b050991fc849355627dd7c823
https://doi.org/10.3109/13816818709031467
https://doi.org/10.3109/13816818709031467
Publikováno v:
Journal of medical genetics, 25(4), 260-262. BMJ Publishing Group
This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02811b831370a1a03c7763e35b3ea027
https://doi.org/10.1136/jmg.25.4.260
https://doi.org/10.1136/jmg.25.4.260