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repair patient mutation androgen repair replication break xeroderma receptor activity replication pigmentosum protein domain level xeroderma pigmentosum gradient excision result synthesis interaction group assay number study syndrome strain wild-type analysis defect binding cleaver xp cells transcription family dna repair activation kleijer androgen receptor diagnosis irradiation amount concentration ligand n /c interaction wild-type ar experiment enzyme expression tfiih q 902k mutation phenotype ercc 1 culture androgen insensitivity syndrome xp patients paper table incubation dimers fibroblast insensitivity damage process radioactivity ttd 1ro f 826l incidence control repair synthesis disease trichothiodystrophy density ar f 826l excision repair mechanism presence cho cells residue cell strains repair process
10 Most Recent Publications
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A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation
(Article)
Wong, H.Y. Hoogerbrugge, J.W. Wolffenbuttel, K.P. Trapman, J. Kleijer, W.J. Drop, S.L.S. Grootegoed, J.A. Brinkmann, A.O. Pang, K.L. Leeuwen, M. van Royen, M.E. van Molier, M. Berrevoets, C.A. Dooijes, D. Dubbink, H.J. Wijngaart, D.J. van de |
2008-09-24
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Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
(Article)
Kleijer, W.J. Laugel, V. Berneburg, M. Nardo, T. Fawcett, H. Gratchev, A. Jaspers, N.G.J. Sarasin, A. Stefanini, M. Lehmann, A.R. |
2008-05-03
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Prenatal diagnosis of Xeroderma pigmentosum and Trichothiodystrophy in 76 pregnancies at risk
(Article)
Kleijer, W.J. Sterre, M.L.T. van der Garritsen, V.H. Raams, A. Jaspers, N.G.J. |
2007-12-01
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First reported patient with human ERCC1 deficiency has cerebro-oculo-facio- skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
(Article)
Jaspers, N.G.J. Raams, A. Vermeulen, W. Silengo, M.C. Wijgers, N. Niedernhofer, L.J. Robinson, A.R. Giglia-Mari, G. Hoogstraten, D. Kleijer, W.J. Hoeijmakers, J.H.J. |
2007-03-01
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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: No obvious genotype-phenotype relationships
(Article)
Botta, E. Offman, J. Sarasin, A. Lehmann, A.R. Stefanini, M. Nardo, T. Ricotti, R. Zambruno, G. Sansone, D. Balestri, P. Raams, A. Kleijer, W.J. Jaspers, N.G.J. |
2007-01-01
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Functional analysis of a novel androgen receptor mutation, Q902K, in an individual with partial androgen insensitivity.
(Article)
Umar, A. Berrevoets, C.A. Van, N.M. Leeuwen, M. van Verbiest, M. Kleijer, W.J. Dooijes, D. Grootegoed, J.A. Drop, S.L.S. Brinkmann, A.O. |
2005-01-01
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A temperature-sensitive disorder in basal transcription and DNA repair in man
(Letter To Editor)
Vermeulen, W. Rademakers, S. Jaspers, N.G.J. Appeldoorn, E. Raams, A. Klein, B. Kjærsgård, L. Hoeijmakers, J.H.J. Kleijer, W.J. |
2001-03-20
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Genotype versus phenotype in families with androgen insensitivity syndrome
(Article)
Boehmer, A.L.M. Oostdijk, W. Rouwé, C.W. Kwast, Th.H. van der Waelkens, J.J. Kleijer, W.J. Bruggenwirth, H.T. Assendelft, C. van Drop, S.L.S. Otten, B.J. Verleun-Mooijman, M.C. Niermeijer, M.F. Vroede, M.A. de Brunner, H.G. |
2001-01-01
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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
(Article)
Voznyi, Y.V. Keulemans, J.L. Mancini, G.M.S. Catsman-Berrevoets, C.E. Young, E. Winchester, B. Kleijer, W.J. Diggelen, O.P. van |
1999-01-01
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Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
(Article)
Eveno, E. Bourre, F. Bootsma, D. Cleaver, J.E. Sarasin, A. Mezzina, M. Quilliet, X. Chevalier-Lagente, O. Roza, L. Eker, A.P.M. Kleijer, W.J. Nikaido, O. Stefanini, M. Hoeijmakers, J.H.J. |
1995-01-01
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