Zobrazeno 1 - 10
of 15
pro vyhledávání: '"A. J. M. Hoogeboom"'
Autor:
K. Floor, Simone Salemink, K.J.A.F. van Kaam, J.M. van de Kamp, Ingrid P.C. Krapels, Marjan M. Weiss, T. van Dijk, E. Wijnands-van den Berg, D. van de Beek, Constance T. R. M. Stumpel, Marlies Kempers, Bart Loeys, Arjan C. Houweling, J. P. van Tintelen, A. J. M. Hoogeboom, K.H.N. de Boer, Hester Y. Kroes, Eline Overwater, V. J. M. Verhoeven, Alessandra Maugeri, J. M. Cobben, Yvonne Hilhorst-Hofstee
Publikováno v:
European Journal of Medical Genetics, 60, 9, pp. 465-473
European Journal of Medical Genetics, 60(9), 465. Elsevier Masson SAS
European Journal of Medical Genetics, 60, 465-473
Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A J M, van Kaam, K J, van de Kamp, J M, Kempers, M, Krapels, I P C, Kroes, H Y, Loeys, B, Salemink, S, Stumpel, C T R M, Verhoeven, V J M, Wijnands-van den Berg, E, Cobben, J M, van Tintelen, J P, Weiss, M M, Houweling, A C & Maugeri, A 2017, ' NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield ', European Journal of Medical Genetics, vol. 60, no. 9, pp. 465-473 . https://doi.org/10.1016/j.ejmg.2017.06.005
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson
European Journal of Medical Genetics, 60(9), 465-473
European Journal of Medical Genetics, 60(9), 465-473. Elsevier
European journal of medical genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465. Elsevier Masson SAS
European Journal of Medical Genetics, 60, 465-473
Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A J M, van Kaam, K J, van de Kamp, J M, Kempers, M, Krapels, I P C, Kroes, H Y, Loeys, B, Salemink, S, Stumpel, C T R M, Verhoeven, V J M, Wijnands-van den Berg, E, Cobben, J M, van Tintelen, J P, Weiss, M M, Houweling, A C & Maugeri, A 2017, ' NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield ', European Journal of Medical Genetics, vol. 60, no. 9, pp. 465-473 . https://doi.org/10.1016/j.ejmg.2017.06.005
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson SAS
European Journal of Medical Genetics, 60(9), 465-473. Elsevier Masson
European Journal of Medical Genetics, 60(9), 465-473
European Journal of Medical Genetics, 60(9), 465-473. Elsevier
European journal of medical genetics, 60(9), 465-473. Elsevier Masson SAS
Background: Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and isolated EL is crucial for further treatment, surveillance and counseling of patients and their relativ
Autor:
M E P van den Elzen, A. J. M. Hoogeboom, A. M. W. Van Den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen, Jacqueline A C Goos, Stephen R.F. Twigg
Publikováno v:
European Journal of Human Genetics, 22(8), 995-1001. Nature Publishing Group
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to a
Publikováno v:
Clinical Genetics. 65:396-399
In this article, we describe a large five-generation family with characteristics of the Saethre-Chotzen syndrome as well as of the blepharophimosis ptosis epicanthus inversus syndrome. Segregating with their phenotype is a deletion of the chromosome
Autor:
J. W. Wladimiroff, N. S. Den Hollander, Simon G. F. Robben, A. J. M. Hoogeboom, Martinus F. Niermeijer
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 18:378-383
Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or lethal co
Autor:
A. J. M. Hoogeboom, Yasemin Alanay, Pelin Ozlem Simsek-Kiper, Hermann-Josef Lüdecke, Beate Albrecht, David Goudie, Ute Hehr, Michael Zeschnigk, Miranda Splitt, Sven Rahmann, Alma Kuechler, Hülya Kayserili, Marcel Martin, Bernd Wollnik, Bernd Schweiger, Sahin Avci, Vanesa López-González, David R. FitzPatrick, Ludger Klein-Hitpass, Dagmar Wieczorek, Claudia Voigt, Johanna Christina Czeschik
Publikováno v:
Human Genetics, 132(8), 885-898. Springer-Verlag
Nager syndrome (MIM #154400) is the best-known preaxial acrofacial dysostosis, mainly characterized by craniofacial and preaxial limb anomalies. The craniofacial abnormalities mainly consist of downslanting palpebral fissures, malar hypoplasia, micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7675f897a5b0e95a59bddb129fa334f8
https://pure.eur.nl/en/publications/261637ec-75ed-4437-b172-8b925d6d3296
https://pure.eur.nl/en/publications/261637ec-75ed-4437-b172-8b925d6d3296
Publikováno v:
Genetic counseling (Geneva, Switzerland). 23(2)
Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and urogenital abnormalities. The level of intelligence shows a great variabilit
Autor:
A. J. M. Hoogeboom, L. C. P. Govaerts
Publikováno v:
Het pediatrisch formularium ISBN: 9789031368556
Bij 3% van de pasgeborenen is er sprake van een meer of minder ernstige verstandelijke en/of lichamelijke handicap, die tot medische interventie in de eerste levensjaren zal leiden. Sommige aandoeningen worden kort na de geboorte gediagnosticeerd, zo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd3fce4a18d88692cbf840979e43945f
https://doi.org/10.1007/978-90-313-6862-4_8
https://doi.org/10.1007/978-90-313-6862-4_8
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
Publikováno v:
Nederlands tijdschrift voor tandheelkunde. 115(2)
Congenital craniofacial malformations vary widely in both expression and gravity. To understand congenital craniofacial malformations, knowledge of embryonic development is of essential importance. Craniosynostosis has its origin in the failure of su
Pfeifferʼs Syndrome Resulting From an S351C Mutation in the Fibroblast Growth Factor Receptor-2 Gene
Autor:
A. M. W. Van Den Ouweland, Arjenne L. W. Hesseling-Janssen, A. J. M. Hoogeboom, Irene M.J. Mathijssen, J. M. Vaandrager
Publikováno v:
Journal of Craniofacial Surgery. 9:207-209
For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth factor receptors (FGFRs) have been described. These substitutions arise mainly in the FGFR-2