NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d68ced92c4f3368fd0e2d7897c0e07
https://pure.eur.nl/en/publications/7d236abb-c8d8-4327-81f4-aa3e0e1265ba

QUALITY AND SAFETY OF ART THERAPIES

Autor: P. Caballero, J. Alonso, S. Cortes, M. Caballero Campo, M. Gago, R. Nunez-Calonge, E. Ricciarelli, J. L. Gomez Palomares, I. Bruna Catalan, E. R. Hernandez, V. Grzegorczyk-Martin, J. Belaisch-Allart, J. M. Mayenga, O. Kulski, M. Plachot, H. C. Darby, M. Florensa Bargallo, N. Perals Vazquez, M. Esbert Algam, M. Belles Fernandez, A. Ballesteros Boluda, G. Calderon de Oya, M. Alegre de Miquel, M. Choudhary, A. Ramineni, J. Stewart, Y. Cabello, S. Fernandez-Shaw, A. Mercader, R. Herrer, G. Arroyo, F. Del Rio, M. Carrera, M. Fernandez Sanchez, T. Sumimoto, N. Kataoka, H. Ogata, S. Mizuta, Y. Tokura, S. Yamada, S. Ogata, Y. Mizusawa, Y. Matsumoto, E. Okamoto, S. Kokeguchi, M. Shiotani, Y. Nagai, J. Otsuki, K. Maeda, Y. Momma, K. Takahashi, M. Chuko, A. Miwa, A. Nagai, J. Seggers, M. L. Haadsma, S. La Bastide-van Gemert, M. J. Heineman, J. H. Kok, K. J. Middelburg, T. J. Roseboom, P. Schendelaar, E. R. Van den Heuvel, M. Hadders-Algra, M. Jongbloed-Pereboom, S. La Bastide-Van Gemert, K. R. Heineman, A. F. Bos, L. A. Kondapalli, A. Shaunik, T. A. Molinaro, S. J. Ratcliffe, K. T. Barnhart, M. Haadsma, P. Keating, J. C. Van Hoften, H. E. Veenstra-Knol, J. M. Cobben, C. Pirkevi, Z. Atayurt, H. Yelke, S. Kahraman, S. Desmyttere, W. Verpoest, P. Haentjens, G. Verheyen, I. Liebaers, M. Bonduelle, C. Winter, F. Van Acker, F. De Schrijver, J. Nekkebroeck, A. Pariente-Khayat, A. de Laubier, D. Fehily, G. Lemardeley, F. Merlet, H. Creusvaux, Y. Nakajo, E. Sakamoto, M. Doshida, M. Toya, I. Nasu, K. Kyono, R. Schats, C. G. Vergouw, E. H. Kostelijk, E. Doejaaren, P. G. A. Hompes, C. B. Lambalk, Y. Nakamura, T. Takisawa, Y. Shibuya, Y. Sato, K. Sato, A. Berard, S. Chaabane, O. Sheehy, L. Blais, W. Fraser, F. Bissonnette, P. Monnier, S. L. Tan, J. Trasler, A. Subramaniam, R. Chiappetta, A. Mania, G. Trew, S. A. Lavery, O. van den Akker, S. Purewal, C. Bunnell, H. Lashen, P. Terriou, C. Giorgetti, G. Porcu-Buisson, V. Roger, J. M. Chinchole, V. Hamon, J. Allemand-Sourieu, L. Cravello, J. Moreau, V. Chabert-Orsini, F. Belva, M. Roelants, J. De Schepper, P. Devroey, R. C. Painter, L. Machin, K. Fearon, K. Morishima, A. Fujimoto, H. Oishi, T. Hirata, M. Harada, A. Hasegawa, Y. Osuga, T. Yano, S. Kozuma, Y. Taketani

Publikováno v: Human Reproduction. 27:ii273-ii285

Introduction: The effect of in vitro fertilization (IVF) on neurodevelopmental outcome is unclear. Probably, IVF does not affect traditional measures of neurological development in infancy, but little is known on long-term effects. Recently a new vid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c8d78c2650707b95946c514ca57d509c
https://doi.org/10.1093/humrep/27.s2.86

Down syndrome: a cardiovascular perspective

Autor: Barbara J. M. Mulder, Marielle G. J. Duffels, J. C. Vis, S. A. Huisman, J. M. Cobben, M. M. Winter, Michel E. Weijerman

Publikováno v: Journal of intellectual disability research, 53(Part 5), 419-425. Wiley-Blackwell
Journal of Intellectual Disability Research, 53, 419-425. Wiley-Blackwell
Vis, J C, Duffels, M G J, Winter, M M, Weijerman, M E, Cobben, J M, Huisman, S A & Mulder, B J M 2009, ' Down syndrome: a cardiovascular perspective ', Journal of Intellectual Disability Research, vol. 53, pp. 419-425 . https://doi.org/10.1111/j.1365-2788.2009.01158.x

This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a6e6a09f5b0623c5f7fc219af14286
https://doi.org/10.1111/j.1365-2788.2009.01158.x

Variable expression of the popliteal pterygium syndrome in two 3-generation families

Autor: Annick Vogels, J. M. Cobben, P H Spauwen, D Soekarman, Jean-Pierre Fryns

Publikováno v: Clinical Genetics. 47:169-174

Three successive generations in two families affected with the popliteal pterygium syndrome are reported. While expression of the syndrome was relatively mild in the first and second generation, the patients in the third generation showed the full-bl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b12bfa84518f274f6d9a7e245e958010
https://doi.org/10.1111/j.1399-0004.1995.tb03954.x

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Autor: Rob G.J. Mensink, G van der Steege, Chcm Buys, J. M. Cobben, Hans Scheffer, Rein P. Stulp

Publikováno v: European Journal of Human Genetics, 8(2), 79-86. Nature Publishing Group

To facilitate the detection of carriers of a hemizygous survival motor neuron (SMN) exon 7 deletion we have modified the quantitative SMN exon 7 assay described by McAndrew ct al (1997). The major changes include quantitative analysis of the amount o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac2f649fe76acc01bd5ed6dff5eaae0
https://doi.org/10.1038/sj.ejhg.5200404