Browsing by Author "Hurk, J.A.J.M. van den"

Now showing items 1-16 of 16

L1 retrotransposition can occur early in human embryonic development.
Hurk, J.A.J.M. van den ; Meij, I.C.; Seleme, M.C.; Kano, H.; Nikopoulos, K. ; Hoefsloot, L.H. ; Sistermans, E.A. ; Wijs, I.J. de; Mukhopadhyay, A. ; Plomp, A.S.; Jong, P.T.V.M. de; Kazazian, H.H.; Cremers, F.P.M. et al. sine al.
2007, Article / Letter to editor (Human Molecular Genetics, vol. 16, iss. 13, (2007), pp. 1587-1592)
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
Michielse, C.B.; Bhat, M.; Brady, A.; Jafrid, H.; Hurk, J.A.J.M. van den ; Raashid, Y.; Brunner, H.G. ; Bokhoven, J.H.L.M. van ; Padberg, G.W.A.M.
2006, Article / Letter to editor (European Journal of Human Genetics, vol. 14, iss. 12, (2006), pp. 1306-1312)
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
Hurk, J.A.J.M. van den ; Rashbass, P.; Roepman, R. ; Davis, J.; Voesenek, K.E.J. ; Arends, M.L. ; Zonneveld-Vrieling, M.N. ; Roekel, M.H. van; Cameron, K.; Rohrschneider, K.; Heckenlively, J.R.; Koenekoop, R.K.; Hoyng, C.B. ; Cremers, F.P.M. ; Hollander, A.I. den et al. sine al.
2005, Article / Letter to editor (Molecular Vision, vol. 11, (2005), pp. 263-273)
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.
Shi, W.; Hurk, J.A.J.M. van den ; Alamo-Bethencourt, V.; Mayer, W.; Winkens, H.J. ; Ropers, H.H.; Cremers, F.P.M. ; Fundele, R.
2004, Article / Letter to editor (Developmental Biology, vol. 272, iss. 1, (2004), pp. 53-65)
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Hurk, J.A.J.M. van den ; Pol, D.J. van de; Wissinger, B.; Driel, M.A. van ; Hoefsloot, L.H. ; Wijs, I.J. de; Born, L.I. van den; Heckenlively, J.R.; Brunner, H.G. ; Zrenner, E.; Ropers, H.H.; Cremers, F.P.M. et al. sine al.
2003, Article / Letter to editor (Human Genetics, vol. 113, iss. 3, (2003), pp. 268-275)
Molecular genetics of Leber congenital amaurosis.
Cremers, F.P.M. ; Hurk, J.A.J.M. van den ; Hollander, A.I. den
2002, Article / Letter to editor (Human Molecular Genetics, vol. 11, iss. 10, (2002), pp. 1169-1176)
The small GTPases Rab6B, a novel Rab6 subfamily member, is cell-type specifically expressed and localised to the Golgi apparatus.
Opdam, F.J.M. ; Echard, A.; Croes, H.J.E. ; Hurk, J.A.J.M. van den ; Vorstenbosch, R.A. van de ; Ginsel, L.A.; Goud, B.; Fransen, J.A.M.
2000, Article / Letter to editor (Journal of Cell Science, vol. 113, (2000), pp. 2725-2735)
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene
Hurk, J.A.J.M. van den ; Schwartz, M.; Bokhoven, H. van ; Pol, T.J.R. van de; Bogerd, L.; Pinckers, A.J.L.G.; Bleeker-Wagemakers, E.M.; Pawlowitzki, I.H.; Rüther, K.; Ropers, H.-H.; Cremers, F.P.M. et al. sine al.
1997, Article / Letter to editor (Human Mutation, vol. 9, iss. 2, (1997), pp. 110-117)
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline
Hurk, J.A.J.M. van den ; Hendriks, W.J.A.J. ; Pol, D.J.R. van de; Oerlemans, F.; Jaissle, G.; Rüther, K.; Kohler, K.; Hartmann, J.; Zrenner, E.; Bokhoven, J. van; Wieringa, B. ; Ropers, H.-H.; Cremers, F.P.M. et al. sine al.
1997, Article / Letter to editor (Human Molecular Genetics, vol. 6, iss. 6, (1997), pp. 851-858)
Molecular basis of choroideremia (CHM): mutations involving the rab escort protein 1 (rep 1) gene
Hurk, J.A.J.M. van den ; Schwartz, M.; Bokhoven, J.H.L.M. van ; Pol, T.J.R. van de; Bogerd, L.; Pinckers, A.J.L.G. ; Bleeker-Wagemakers, E.M.; Pawlowitzki, I.H.; Ruther, K.; Ropers, H.H.; Cremers, F.P.M. et al. sine al.
1997, Article / Letter to editor (Human Mutation, vol. 9, (1997), pp. 110-117)
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline
Hurk, J.A.J.M. van den ; Hendriks, W.J.A.J. ; Pol, T.J.R. van de; Oerlemans, F.T.J.J. ; Jaissle, G.; Rüther, K.; Kohler, K.; Hartmann, J.; Zrenner, E.; Bokhoven, J.H.L.M. van ; Wieringa, B. ; Ropers, H.H.; Cremers, F.P.M. et al. sine al.
1997, Article / Letter to editor (Human Molecular Genetics, vol. 6, (1997), pp. 851-858)
A highly polymorphic microsatellite marker located within the choroideremia gene
Bokhoven, J.H.L.M. van ; Hurk, J.A.J.M. van den ; Bogerd, E.H.; Pol, T.J.R. van de; Ropers, H.H.; Cremers, F.P.M.
1996, Article / Letter to editor (Ophthalmic Paediatrics and Genetics, vol. 17, iss. 3, (1996), pp. 119-121)
Assignment of the human protein tyrosine phosphatase epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization
Maagdenberg, A.M.J.M. van den; Hurk, J.A.J.M. van den ; Olde Weghuis, D.E.M.; Wieringa, B. ; Geurts van Kessel, A.H.M. ; Hendriks, W.J.A.J.
1995, Article / Letter to editor (Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, vol. 30, iss. 1, (1995), pp. 128-129)
Assignment of the human protein tyrosine phosphatase Epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization
Maagdenberg, A.M.J.M. van den; Olde Weghuis, D.E.M.; Wieringa, B. ; Geurts van Kessel, A.H.M. ; Hendriks, W.J.A.J. ; Hurk, J.A.J.M. van den
1995, Article / Letter to editor (Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, vol. 30, (1995), pp. 128-129)
Assignment of the human protein tyrosine phosphatase Epsilon (PTPRE) gene to chromosome 10q26 by fluorescence in situ hybridization
Maagdenberg, A.M.J.M. van den; Olde Weghuis, D.E.M. ; Wieringa, B. ; Geurts van Kessel, A.H.M. ; Hendriks, W.J.A.J. ; Hurk, J.A.J.M. van den
1995, Article / Letter to editor (Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, vol. 30, (1995), pp. 128-129)
Assignment of the human protein tyrosine phosphatase epsilon (HPTPE) gene to chromosome 10q26 by fluorescence in situ hybridization
Maagdenberg, A.M.J.M. van den; Hurk, J.A.J.M. van den ; Olde Weghuis, D.E.M. ; Wieringa, B. ; Geurts van Kessel, A.H.M. ; Hendriks, W.J.A.J.
1995, Article / Letter to editor (Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, vol. 30, (1995), pp. 128-129)

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