The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

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

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

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

Autor: Ramon A C, van Huet, Laurence H M, Pierrache, Magda A, Meester-Smoor, Caroline C W, Klaver, L Ingeborgh, van den Born, Carel B, Hoyng, Ilse J, de Wijs, Rob W J, Collin, Lies H, Hoefsloot, B Jeroen, Klevering

Publikováno v: Molecular Vision

Purpose To determine the efficacy of multiple versions of a commercially available arrayed primer extension (APEX) microarray chip for autosomal recessive retinitis pigmentosa (arRP). Methods We included 250 probands suspected of arRP who were geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8ba1442b8f24a64630d91562b1906a42
https://pubmed.ncbi.nlm.nih.gov/25999674

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

Autor: L. Ingeborgh van den Born, Bernd Wissinger, Marc A. van Driel, Eberhart Zrenner, Han G. Brunner, Lies H. Hoefsloot, Hans-Hilger Ropers, John R. Heckenlively, Ilse J. de Wijs, Frans P.M. Cremers, José A. J. M. van den Hurk, Dorien J. R. van de Pol

Publikováno v: Human Genetics, 113, 3, pp. 268-75
Human Genetics, 113, 268-75

Contains fulltext : 120677.pdf (Publisher’s version ) (Closed access) Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d790c218ae8911b3fc49f1c8f07c13c4
https://hdl.handle.net/2066/120677

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Autor: Ilse J. de Wijs, Jorieke E. H. Bergman, Conny M. A. van Ravenswaaij-Arts, Marjolijn C.J. Jongmans, Ronald J.C. Admiraal, Lies H. Hoefsloot

Publikováno v: European journal of medical genetics, 51(5), 417-425. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 51, 417-25
European Journal of Medical Genetics, 51, 5, pp. 417-25

Contains fulltext : 70302.pdf (Publisher’s version ) (Closed access) CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in the CHD7 gene. Mutations in this gene are found in 60-70% of patients suspected of having CHARGE s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0092fbb064f0fe259abdf466ec28ae8
https://research.rug.nl/en/publications/6f653940-00bf-4c14-8937-20b4d395c337

Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Autor: Ilse J. de Wijs, Hsien-Hsiung Lee, Erik A. Sistermans

Publikováno v: Molecular Genetics and Metabolism, 70, 4, pp. 322-324
Molecular Genetics and Metabolism, 70, 322-324
Molecular Genetics and Metabolism, 70(4), 322-324. Academic Press Inc.
Lee, H H, De Wijs, I J & Sistermans, E A 2000, ' Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency ', Molecular Genetics and Metabolism, vol. 70, no. 4, pp. 322-324 . https://doi.org/10.1006/mgme.2000.3023

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. For reliable and accurate mutation detection in the CYP21 gene it is important to separate the CYP21 ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d68dcf56b91efec2b7ae6a05bf55976
https://hdl.handle.net/2066/123727