Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Michelle B van Egmond-Ebbeling"'
Autor:
Therese van Amelsvoort, Michiel L. Houben, Emy S. van der Valk Bouman, Erik Boot, Myrthe A. Nuijts, Emma N. M. M. von Scheibler, Pit Vermeltfoort, Tos T. J. M. Berendschot, Levinus A. Bok, Agnies M. van Eeghen, Noël J.C. Bauer, Michelle B. van Egmond-Ebbeling
Publikováno v:
American Journal of Medical Genetics, Part A, 188(2), 569-578. Wiley-Liss Inc.
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556
von Scheibler, E N M M, van der Valk Bouman, E S, Nuijts, M A, Bauer, N J C, Berendschot, T T J M, Vermeltfoort, P, Bok, L A, van Eeghen, A M, Houben, M L, van Amelsvoort, T A M J, Boot, E & van Egmond-Ebbeling, M B 2022, ' Ocular findings in 22q11.2 deletion syndrome : A systematic literature review and results of a Dutch multicenter study ', American Journal of Medical Genetics, Part A, vol. 188, no. 2, pp. 569-578 . https://doi.org/10.1002/ajmg.a.62556
The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech- and language delay, intellectual disability, and neurop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca9816f5a3fea1d45a2c185c0f867986
https://doi.org/10.1002/ajmg.a.62556
https://doi.org/10.1002/ajmg.a.62556
Autor:
Michelle B. van Egmond-Ebbeling, Inge Stegeman, Denise C. P. van der Linden, Eelco W. Hoving, Antoinette Y. N. Schouten-van Meeteren, Josje C. Duvekot, Saskia M. Imhof, Giorgio L. Porro, Myrthe A. Nuijts
Publikováno v:
Journal of neuro-ophthalmology, 42(1), E99-E108. Lippincott Williams and Wilkins
BACKGROUND Children with a brain tumor are prone to develop visual impairment, which to date is often underestimated and unrecognized. Our aim was to assess the prevalence of ophthalmological evaluation and abnormal ophthalmological findings, and inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd6877ae48aa9b90933f3d5579c43a8
https://pure.amc.nl/en/publications/ophthalmological-evaluation-in-children-presenting-with-a-primary-brain-tumor(cfd64517-1ad0-42e8-82af-49b435757863).html
https://pure.amc.nl/en/publications/ophthalmological-evaluation-in-children-presenting-with-a-primary-brain-tumor(cfd64517-1ad0-42e8-82af-49b435757863).html
Autor:
Michelle B van Egmond-Ebbeling, Thomas J C Renson, Anne-Mieke J W Haasnoot, Paul G Kemps, Joris M van Montfrans, Marrie C A Bruin
Publikováno v:
The Lancet Rheumatology. 4:e450
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50200c46948ce881b2ef9df29867290c
https://doi.org/10.1016/s2665-9913(21)00210-1
https://doi.org/10.1016/s2665-9913(21)00210-1
Autor:
Peter M. van Hasselt, Jens A. Achterberg, Brigitte T.A. van den Broek, Jaap-Jan Boelens, Michelle B. van Egmond-Ebbeling
Publikováno v:
Biology of Blood and Marrow Transplantation. 25:S41-S42
Aim Corneal clouding is seen in nearly all patients with Mucopolysaccharidosis-1 (MPS-1) causing visual impairment. Hematopoietic cell transplantation (HCT) is able to stabilize disease in many organs including the brain. However, residual disease in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99d85f279a7b18d5695394baec4cbc56
https://doi.org/10.1016/j.bbmt.2018.12.117
https://doi.org/10.1016/j.bbmt.2018.12.117
Autor:
Yvonne, Koenraads, Michelle B, van Egmond-Ebbeling, Joke H, de Boer, Saskia M, Imhof, Kees P J, Braun, Giorgio L, Porro, Wouter B H J, Vehmeijer
Publikováno v:
Acta Ophthalmologica, 94(7), 638-645
Acta Ophthalmologica, 94(7), 638. Wiley-Blackwell
Acta Ophthalmologica, 94(7), 638. Wiley-Blackwell
Visual functions in Sturge-Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to gain better insight in the visual deficits of SWS patients. A systematic literatu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::273e69673cc572e4ce50fb9a41b19632
https://doi.org/10.1111/aos.13074
https://doi.org/10.1111/aos.13074