CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations von Stikkelbroeck, Nike M. M. L., Hoefsloot, Lies H., de Wijs, Ilse J., Otten, Barto J., Hermus, Ad R. M. M., Sistermans, Erik A.

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping von Siemiatkowska, Anna M, Arimadyo, Kentar, Moruz, Luminita M, Astuti, Galuh D N, de Castro-Miro, Marta, Zonneveld, Marijke N, Strom, Tim M, de Wijs, Ilse J, Hoefsloot, Lies H, Faradz, Sultana M H, Cremers, Frans P M, den Hollander, Anneke I, Collin, Rob W J

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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan von Khan, MI, Ajmal, M, Micheal, S, Azam, M, Hussain, A, Shahzad, A, Venselaar, H, Bokhari, H, de Wijs, IJ, Hoefsloot, LH, Waheed, NK, Collin, RWJ, den Hollander, AI, Qamar, R, Cremers, FPM

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

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease von SISTERMANS, E. A, DE COO, R. F. M, DE WIJS, I. J, VAN OOST, B. A

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Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations von Santos, Regie Lyn P., Aulchenko, Yurii S., Huygen, Patrick L.M., Donk, Kim P. van der, Wijs, Ilse J. de, Kemperman, Martijn H., Admiraal, Ronald J.C., Kremer, Hannie, Hoefsloot, Lies H., Cremers, Cor W.R.J.

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Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene von Koppens, P F J, Smeets, H J M, de Wijs, I J, Degenhart, H J

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A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family von SISTERMANS, E. A, DE WIJS, I. J, DE COO, R. F. M, SMIT, L. M. E, MENKO, F. H, VAN OOST, B. A

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Factors affecting the mitotic stability of high‐copy‐number integration into the ribosomal DNA of Saccharomyces cerevisiae von Lopes, T.S, De Wijs, I.J, Steenhauer, S.I, Verbakel, J, Planta, R.J

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A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes von de Coo, I F, Sistermans, E A, de Wijs, I J, Catsman-Berrevoets, C, Busch, H F, Scholte, H R, de Klerk, J B, van Oost, B A, Smeets, H J

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Use of TaqI Digestion May Lead to Incorrect Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency von Lee, Hsien-Hsiung, de Wijs, Ilse J., Sistermans, Erik A.

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Termination of transcription by yeast RNA polymerase I von VAN DER SANDE, C. A. F. M, KULKENS, T, KRAMER, A. B, DE WIJS, I. J, VAN HEERIKHUIZEN, H, KLOOTWIJK, J, PLANTA, R. J

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X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder von DE VRIES, D. D, DE WIJS, I. J, WOLFF, G, KETELSEN, U.-P, ROPERS, H.-H, VAN OOST, B. A

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Report on the sixth blind test of organic crystal structure prediction methods von Reilly, AM, Cooper, RI, Adjiman, CS, Bhattacharya, S, Boese, AD, Brandenburg, JG, Bygrave, PJ, Bylsma, R, Campbell, JE, Car, R, Case, DH, Chadha, R, Cole, JC, Cosburn, K, Cuppen, HM, Curtis, F, Day, GM, DiStasio, RA, Dzyabchenko, A, Van Eijck, BP, Elking, DM, Van den Ende, JA, Facelli, JC, Ferraro, MB, Fusti-Molnar, L, Gatsiou, CA, Gee, TS, De Gelder, R, Ghiringhelli, LM, Goto, H, Grimme, S, Guo, R, Hofmann, DW, Hoja, J, Hylton, RK, Iuzzolino, L, Jankiewicz, W, De Jong, DT, Kendrick, J, De Klerk, NJ, Ko, HY, Kuleshova, LN, Li, X, Lohani, S, Leusen, FJ, Lund, AM, Lv, J, Ma, Y, Marom, N, Masunov, AE, McCabe, P, McMahon, DP, Meekes, H, Metz, MP, Misquitta, AJ, Mohamed, S, Monserrat, B, Needs, RJ, Neumann, MA, Nyman, J, Obata, S, Oberhofer, H, Oganov, AR, Orendt, AM, Pagola, GI, Pantelides, CC, Pickard, CJ, Podeszwa, R, Price, LS, Price, SL, Pulido, A, Read, MG, Reuter, K, Schneider, E, Schober, C, Shields, GP, Singh, P, Sugden, IJ, Szalewicz, K, Taylor, CR, Tkatchenko, A, Tuckerman, ME, Vacarro, F, Vasileiadis, M, Vazquez-Mayagoitia, A, Vogt, L, Wang, Y, Watson, RE, De Wijs, GA, Yang, J, Zhu, Q, Groom, CR

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Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood von KREMER, H, HAMEL, B. C. J, VAN DEN HELM, B, ARTS, W. F. M, DE WIJS, I. J, SISTERMANS, E. A, ROPERS, H.-H, MARIMAN, E. C. M

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Enzymological versus DNA investigations in mitochondrial (encephalo‐)myopathies von Vries, D. D., Ruitenbeek, W., Wijs, I. J., Trijbels, J. M. F., Oost, B. A.

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Report on the sixth blind test of organic crystal structure prediction methods von Reilly, AM, Cooper, RI, Adjiman, CS, Bhattacharya, S, Boese, AD, Brandenburg, JG, Bygrave, PJ, Bylsma, R, Campbell, JE, Car, R, Case, DH, Chadha, R, Cole, JC, Cosburn, K, Cuppen, HM, Curtis, F, Day, GM, DiStasio, RA, Dzyabchenko, A, Van Eijck, BP, Elking, DM, Van Den Ende, JA, Facelli, JC, Ferraro, MB, Fusti-Molnar, L, Gatsiou, CA, Gee, TS, De Gelder, R, Ghiringhelli, LM, Goto, H, Grimme, S, Guo, R, Hofmann, DWM, Hoja, J, Hylton, RK, Iuzzolino, L, Jankiewicz, W, De Jong, DT, Kendrick, J, De Klerk, NJJ, Ko, HY, Kuleshova, LN, Li, X, Lohani, S, Leusen, FJJ, Lund, AM, Lv, J, Ma, Y, Marom, N, Masunov, AE, McCabe, P, McMahon, DP, Meekes, H, Metz, MP, Misquitta, AJ, Mohamed, S, Monserrat, B, Needs, RJ, Neumann, MA, Nyman, J, Obata, S, Oberhofer, H, Oganov, AR, Orendt, AM, Pagola, GI, Pantelides, CC, Pickard, CJ, Podeszwa, R, Price, LS, Price, SL, Pulido, A, Read, MG, Reuter, K, Schneider, E, Schober, C, Shields, GP, Singh, P, Sugden, IJ, Szalewicz, K, Taylor, CR, Tkatchenko, A, Tuckerman, ME, Vacarro, F, Vasileiadis, M, Vazquez-Mayagoitia, A, Vogt, L, Wang, Y, Watson, RE, De Wijs, GA, Yang, J, Zhu, Q, Groom, CR

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Report on the sixth blind test of organic crystal structure prediction methods von Reilly, AM, Cooper, RI, Adjiman, CS, Bhattacharya, S, Boese, AD, Brandenburg, JG, Bygrave, PJ, Bylsma, R, Campbell, JE, Car, R, Case, DH, Chadha, R, Cole, JC, Cosburn, K, Cuppen, HM, Curtis, F, Day, GM, DiStasio, RA, Dzyabchenko, A, van Eijck, BP, Elking, DM, van den Ende, JA, Facelli, JC, Ferraro, MB, Fusti-Molnar, L, Gatsiou, C-A, Gee, TS, de Gelder, R, Ghiringhelli, LM, Goto, H, Grimme, S, Guo, R, Hofmann, DWM, Hoja, J, Hylton, RK, Iuzzolino, L, Jankiewicz, W, de Jong, DT, Kendrick, J, de Klerk, NJJ, Ko, H-Y, Kuleshova, LN, Li, X, Lohani, S, Leusen, FJJ, Lund, AM, Lv, J, Ma, Y, Marom, N, Masunov, AE, McCabe, P, McMahon, DP, Meekes, H, Metz, MP, Misquitta, AJ, Mohamed, S, Monserrat, B, Needs, RJ, Neumann, MA, Nyman, J, Obata, S, Oberhofer, H, Oganov, AR, Orendt, AM, Pagola, GI, Pantelides, CC, Pickard, CJ, Podeszwa, R, Price, LS, Price, SL, Pulido, A, Read, MG, Reuter, K, Schneider, E, Schober, C, Shields, GP, Singh, P, Sugden, IJ, Szalewicz, K, Taylor, CR, Tkatchenko, A, Tuckerman, ME, Vacarro, F, Vasileiadis, M, Vazquez-Mayagoitia, A, Vogt, L, Wang, Y, Watson, RE, de Wijs, GA, Yang, J, Zhu, Q, Groom, CR

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