Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Pia A. M. De Koning Gans"'
Autor:
Ilse Feenstra, Marieke F. van Dooren, Marie José H. Van Den Boogaard, Rolph Pfundt, Stefan H. Lelieveld, Celia Zazo Seco, Henricus P. M. Kunst, Ilse J. de Wijs, Christian Gilissen, Saskia M. Maas, Arjan C. Houweling, Saskia Tamminga, Astrid S Plomp, Steven Castelein, Helger G. Yntema, Margit Schraders, Els K. Vanhoutte, Ronald J.C. Admiraal, Sarina G. Kant, Suzanna G.M. Frints, Hans Scheffer, Christa M. De Geus, Pia A. M. de Koning Gans, Jiddeke M. van de Kamp, Jayne Y. Hehir-Kwa, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Marcel R. Nelen, Lies H. Hoefsloot
Publikováno v:
European Journal of Human Genetics, 25(3), 308-314. Nature Publishing Group
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182
Contains fulltext : 169850.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dfd1405b2d7c6f194a52290cfacdd33
https://doi.org/10.1038/ejhg.2016.182
https://doi.org/10.1038/ejhg.2016.182
Autor:
Michelle M. van Rossum, Andy J. Beynon, Vitória Piai, Ilse Feenstra, Liselotte J. C. Rotteveel, Stefan H. Lelieveld, Berit M. Verbist, Ronald J.E. Pennings, Mieke Wesdorp, Marieke F. van Dooren, Hannie Kremer, Martijn A. Huynen, Laurens Wiel, Pia A. M. de Koning Gans, Hanka Venselaar, Ronald J.C. Admiraal, Henricus P. M. Kunst, Margit Schraders, Judith van Gaalen, Peter Lichtner, Helger G. Yntema, Nicol C. Voermans, Jaap Oostrik, Bas P. Hartel, Lies H. Hoefsloot
Publikováno v:
Hum. Genet. 137, 389-400 (2018)
Human Genetics, 137(5), 389-400
Human Genetics, 137, 5, pp. 389-400
Human Genetics, 137, 389-400
Human Genetics
Human Genetics, 137(5), 389-400. Springer-Verlag
Human Genetics, 137(5), 389-400
Human Genetics, 137, 5, pp. 389-400
Human Genetics, 137, 389-400
Human Genetics
Human Genetics, 137(5), 389-400. Springer-Verlag
Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68236f8b9eedddeb56a8a14598079b69
https://doi.org/10.1007/s00439-018-1880-5
https://doi.org/10.1007/s00439-018-1880-5
Autor:
Arn M. J. M. van den Maagdenberg, Jan J.G.M. Verschuuren, Paul W. Wirtz, Albert Twijnstra, Francesc Graus, Pia A. M. de Koning Gans, Bethan Lang, Albert Saiz
Publikováno v:
Journal of Neuroimmunology. 164:161-165
To assess the survival impact of the presence of P/Q-type calcium channel antibodies in patients with small cell lung carcinoma (SCLC), we examined the frequency of the antibodies and Lambert-Eaton myasthenic syndrome (LEMS) in 148 consecutive patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::959816f08fddb19ae43de0170764a3cf
https://doi.org/10.1016/j.jneuroim.2005.04.001
https://doi.org/10.1016/j.jneuroim.2005.04.001
Autor:
Pia A. M. de Koning-Gans, Inge M. Mulder, Marian Kraak, Annemarie H. van der Hout, Charles H.C.M. Buys, Robert M.W. Hofstra, Rolf H. A. M. Vossen, Ieke B. Ginjaar, Egbert Bakker, Gert-Jan B. van Ommen, Anthonie J. van Essen, Johan T. den Dunnen
Publikováno v:
Human Mutation, 23(1), 57-66. Wiley
Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two,thirds of DMD patients, with similar to60% carrying deletions and 5-10% carrying duplications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9e38ea341250bba00f9183973dcc53
https://hdl.handle.net/11370/2876f929-9b1e-45ed-a406-a309609a0a52
https://hdl.handle.net/11370/2876f929-9b1e-45ed-a406-a309609a0a52
Autor:
Johan T. den Dunnen, Gert-Jan B. van Ommen, Karien E. de Rooij, Pia A. M. De Koning Gans, Raymund A.C. Roos
Publikováno v:
Human Genetics. 95:270-274
The mutation causing Huntington disease (HD) has been identified as an expansion of a polymorphic (CAG) n repeat in the 5′ part of the huntingtin gene. The specific neuropathology of HD, viz. selective neuronal loss in the caudate nucleus and putam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a191234a66a9acc2a544d0d6a12290f
https://doi.org/10.1007/bf00225192
https://doi.org/10.1007/bf00225192
Autor:
A. Verwest, Johan T. den Dunnen, Karien E. de Rooij, Maria Vegter-van der Vlis, Pia A. M. De Koning Gans, Gert-Jan B. van Ommen, Egbert Bakker, M. I. Skraastad
Publikováno v:
Genomics. 16:599-604
The candidate region for the Huntington disease (HD) gene has been narrowed down to a 2.2-Mb region between D4S10 and D4S98 on the short arm of chromosome 4. To map the HD gene within this candidate region 65 Dutch HD families were studied. In total
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a3755c8a3f4c1b071405b69839fef51
https://doi.org/10.1006/geno.1993.1236
https://doi.org/10.1006/geno.1993.1236
Autor:
Egbert Bakker, Pia A. M. de Koning Gans, John R.W. Yates, Ieke B. Ginjaar, Johan T. den Dunnen
Publikováno v:
Neuromuscular disorders : NMD. 9(4)
X-linked Emery–Dreifuss muscular dystrophy (EMD) is caused by mutations in the emerin gene. Since the emerin gene is ubiquitously expressed and since all EMD mutations published so far should be detectable by an RNA-based mutation assay, we have de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d77f9941e2e82ece6b94775e936b8d
https://pubmed.ncbi.nlm.nih.gov/10399752
https://pubmed.ncbi.nlm.nih.gov/10399752
Autor:
Robert M.W. Hofstra, Inge M. Mulder, Rolf Vossen, Pia A. M. de Koning-Gans, Marian Kraak, Ieke B. Ginjaar, Annemarie H. van der Hout, Egbert Bakker, Charles H.C.M. Buys, Gert-Jan B. van Ommen, Anthonie J. van Essen, Johan T. den Dunnen
Publikováno v:
Human Mutation; Jan2004, Vol. 23 Issue 1, p57-66, 10p