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
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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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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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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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
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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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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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
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis
van den Hurk, José A J M, Rashbass, Penny, Roepman, Ronald, Davis, Jason, Voesenek, Krysta E J, Arends, Maarten L, Zonneveld, Marijke N, van Roekel, Marga H G, Cameron, Karen, Rohrschneider, Klaus, Heckenlively, John R, Koenekoop, Robert K, Hoyng, Carel B, Cremers, Frans P M, den Hollander, Anneke I
Published in Molecular vision (15.04.2005)
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Published in Molecular vision (15.04.2005)
Journal Article
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues
Shi, Wei, van den Hurk, José A.J.M, Alamo-Bethencourt, Victor, Mayer, Wolfgang, Winkens, Huub J, Ropers, Hans-Hilger, Cremers, Frans P.M, Fundele, Reinald
Published in Developmental biology (01.08.2004)
Published in Developmental biology (01.08.2004)
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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
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
Novel types of mutation in the choroideremia
van den Hurk, José A. J. M, van de Pol, Dorien J. R, Wissinger, Bernd, van Driel, Marc A, Hoefsloot, Lies H, de Wijs, Ilse J, van den Born, L. Ingeborgh
Published in Human genetics (01.08.2003)
Published in Human genetics (01.08.2003)
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