Molecular genetics of Leber congenital amaurosis
Cremers, Frans P. M., van den Hurk, José A. J. M., den Hollander, Anneke I.
Published in Human molecular genetics (15.05.2002)
Published in Human molecular genetics (15.05.2002)
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Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes
MICHIELSE, Caroline B, BHAT, Meena, BRADY, Angela, JAFRID, Hussain, VAN DEN HURK, José A. J. M, RAASHID, Yasmin, BRUNNER, Han G, VAN BOKHOVEN, Hans, PADBERG, George W
Published in European journal of human genetics : EJHG (01.12.2006)
Published in European journal of human genetics : EJHG (01.12.2006)
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Journal Article
p38 inhibition and not MK2 inhibition enhances the secretion of chemokines from TNF-α activated rheumatoid arthritis fibroblast-like synoviocytes
Dulos, J, Wijnands, F P G, van den Hurk-van Alebeek, J A J, van Vugt, M J H, Rullmann, J A C, Schot, J-J G, de Groot, M W G D M, Wagenaars, J L, van Ravestein-van Os, R, Smets, R L, Vink, P M, Hofstra, C L, Nelissen, R L H, van Eenennaam, H
Published in Clinical and experimental rheumatology (01.07.2013)
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Published in Clinical and experimental rheumatology (01.07.2013)
Journal Article
L1 retrotransposition can occur early in human embryonic development
van den Hurk, José A.J.M., Meij, Iwan C., del Carmen Seleme, Maria, Kano, Hiroki, Nikopoulos, Konstantinos, Hoefsloot, Lies H., Sistermans, Erik A., de Wijs, Ilse J., Mukhopadhyay, Arijit, Plomp, Astrid S., de Jong, Paulus T.V.M., Kazazian, Haig H., Cremers, Frans P.M.
Published in Human molecular genetics (01.07.2007)
Published in Human molecular genetics (01.07.2007)
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Journal Article
Cloning and characterization of the human choroideremia gene
van Bokhoven, H, van den Hurk, J A, Bogerd, L, Philippe, C, Gilgenkrantz, S, de Jong, P, Ropers, H H, Cremers, F P
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram
Renner, Agnes B., Kellner, Ulrich, Cropp, Elke, Preising, Markus N., MacDonald, Ian M., van den Hurk, José A.J.M., Cremers, Frans P.M., Foerster, Michael H.
Published in Ophthalmology (Rochester, Minn.) (01.11.2006)
Published in Ophthalmology (Rochester, Minn.) (01.11.2006)
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Journal Article
The small GTPase Rab6B, a novel Rab6 subfamily member, is cell-type specifically expressed and localised to the Golgi apparatus
Opdam, F J, Echard, A, Croes, H J, van den Hurk, J A, van de Vorstenbosch, R A, Ginsel, L A, Goud, B, Fransen, J A
Published in Journal of cell science (01.08.2000)
Published in Journal of cell science (01.08.2000)
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Journal Article
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
VAN DEN HURK, José A. J. M, VAN DE POL, Dorien J. R, ROPERS, Hans-Hilger, CREMERS, Frans P. M, WISSINGER, Bernd, VAN DRIEL, Marc A, HOEFSLOOT, Lies H, DE WIJS, Ilse J, VAN DEN BORN, L. Ingeborgh, HECKENLIVELY, John R, BRUNNER, Han G, ZRENNER, Eberhart
Published in Human genetics (01.08.2003)
Published in Human genetics (01.08.2003)
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Journal Article
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients
van Bokhoven, H, Schwartz, M, Andréasson, S, van den Hurk, J A, Bogerd, L, Jay, M, Rüther, K, Jay, B, Pawlowitzki, I H, Sankila, E M
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Journal Article
Aberrant splicing of the CHM gene is a significant cause of choroideremia
Sankila, Eeva-Marja, Cremers, Frans P. M, Tolvanen, Ritva, van den Hurk, José A. J. M, de la Chapelle, Albert
Published in Nature genetics (01.05.1992)
Published in Nature genetics (01.05.1992)
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Journal Article
Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female Germline
van den Hurk, José A. J. M., Hendriks, Wiljan, van de Pol, Dorien J. R., Oerlemans, Frank, Jaissle, Gesine, Ruther, Klaus, Kohler, Konrad, Hartmann, Jens, Zrenner, Eberhart, van Bokhoven, Hans, Wieringa, Bé, Ropers, Hans-Hilger, Cremers, Frans P. M.
Published in Human molecular genetics (01.06.1997)
Published in Human molecular genetics (01.06.1997)
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Journal Article
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
VAN DEN HURK, J. A. J. M, VAN DE POL, T. J. R, ROPERS, H.-H, CREMERS, F. P. M, MOLLOY, C. M, BRUNSMANN, F, RÜTHER, K, ZRENNER, E, PINCKERS, A. J. L. G, PAWLOWITZKI, I. H, BLEEKER-WAGEMAKERS, E. M, WIERINGA, B
Published in American journal of human genetics (01.06.1992)
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Published in American journal of human genetics (01.06.1992)
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Evaluating the Effectiveness and Cost-Effectiveness of Seizure Dogs in Persons With Medically Refractory Epilepsy in the Netherlands: Study Protocol for a Stepped Wedge Randomized Controlled Trial (EPISODE)
Wester, Valérie, de Groot, Saskia, Kanters, Tim, Wagner, Louis, Ardesch, Jacqueline, Corro Ramos, Isaac, Enders-Slegers, Marie-Jose, de Ruiter, Martine, le Cessie, Saskia, Los, Jeanine, Papageorgiou, Grigorios, van Exel, Job, Versteegh, Matthijs
Published in Frontiers in neurology (22.01.2020)
Published in Frontiers in neurology (22.01.2020)
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Journal Article
Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28
Biancalana, V, Le Marec, B, Odent, S, van den Hurk, J A, Hanauer, A
Published in Human genetics (01.12.1991)
Published in Human genetics (01.12.1991)
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Journal Article
Identification of mutations in Danish choroideremia families
Schwartz, M, Rosenberg, T, van den Hurk, J A, van de Pol, D J, Cremers, F P
Published in Human mutation (1993)
Published in Human mutation (1993)
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Journal Article
DXS539, a polymorphic DNA marker proximal of the fragile-X gene
Dreesen, J C, van den Hurk, J A, Smits, A P, van den Ouweland, A M, Markslag, P W, van Oost, B A
Published in Human genetics (01.03.1993)
Published in Human genetics (01.03.1993)
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Journal Article
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q
Cremers, F P, Molloy, C M, van de Pol, D J, van den Hurk, J A, Bach, I, Geurts van Kessel, A H, Ropers, H H
Published in Human molecular genetics (01.05.1992)
Published in Human molecular genetics (01.05.1992)
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Journal Article
Prenatal exclusion of choroideremia
van den Hurk, J A, van Zandvoort, P M, Brunsmann, F, Pawlowitzki, I H, Holzgreve, W, Szabo, P, Cremers, F P, van Oost, B A
Published in American journal of medical genetics (01.12.1992)
Published in American journal of medical genetics (01.12.1992)
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