Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy von Kleijer, Wim J., Laugel, Vincent, Berneburg, Mark, Nardo, Tiziana, Fawcett, Heather, Gratchev, Alexei, Jaspers, Nicolaas G.J., Sarasin, Alain, Stefanini, Miria, Lehmann, Alan R.

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Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors von Navarro, Claire L., Cadiñanos, Juan, Sandre-Giovannoli, Annachiara De, Bernard, Rafaëlle, Courrier, Sébastien, Boccaccio, Irène, Boyer, Amandine, Kleijer, Wim J., Wagner, Anja, Giuliano, Fabienne, Beemer, Frits A., Freije, Jose M., Cau, Pierre, Hennekam, Raoul C.M., López-Otín, Carlos, Badens, Catherine, Lévy, Nicolas

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Senescence‐associated β‐galactosidase is lysosomal β‐galactosidase von Lee, Bo Yun, Han, Jung A., Im, Jun Sub, Morrone, Amelia, Johung, Kimberly, Goodwin, Edward C., Kleijer, Wim J., DiMaio, Daniel, Hwang, Eun Seong

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Molecular Analysis of Mutations in DNA Polymerase η in Xeroderma Pigmentosum-Variant Patients von Broughton, Bernard C., Cordonnier, Agnes, Kleijer, Wim J., Nicolaas G. J. Jaspers, Fawcett, Heather, Raams, Anja, Garritsen, Victor H., Stary, Anne, Avril, Marie-Françoise, Boudsocq, François, Masutani, Chikahide, Hanaoka, Fumio, Fuchs, Robert P., Sarasin, Alain, Lehmann, Alan R.

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis von Niedernhofer, Laura J., Garinis, George A., Raams, Anja, Lalai, Astrid S., Robinson, Andria Rasile, Appeldoorn, Esther, Odijk, Hanny, Oostendorp, Roos, Ahmad, Anwaar, van Leeuwen, Wibeke, Theil, Arjan F., Vermeulen, Wim, van der Horst, Gijsbertus T. J., Meinecke, Peter, Kleijer, Wim J., Vijg, Jan, Jaspers, Nicolaas G. J., Hoeijmakers, Jan H. J.

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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 von Jaspers, Nicolaas G.J., Raams, Anja, Silengo, Margherita Cirillo, Wijgers, Nils, Niedernhofer, Laura J., Robinson, Andria Rasile, Giglia-Mari, Giuseppina, Hoogstraten, Deborah, Kleijer, Wim J., Hoeijmakers, Jan H.J., Vermeulen, Wim

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A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype–phenotype relationship von Pehlivan, Davut, Cefle, Kivanc, Raams, Anja, Ozturk, Sukru, Baykal, Can, Kleijer, Wim J., Palanduz, Sukru, Jaspers, Nicolaas G. J.

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Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy von Graham, John M., Anyane-Yeboa, Kwame, Raams, Anja, Appeldoorn, Esther, Kleijer, Wim J., Garritsen, Victor H., Busch, David, Edersheim, Terri G., Jaspers, Nicolaas G.J.

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A temperature-sensitive disorder in basal transcription and DNA repair in humans von Vermeulen, Wim, Rademakers, Suzanne, Jaspers, Nicolaas G.J., Appeldoorn, Esther, Raams, Anja, Klein, Binie, Kleijer, Wim J., Kjærsgård Hansen, Lars, Hoeijmakers, Jan H.J.

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Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency von Cosma, Maria Pia, Pepe, Stefano, Parenti, Giancarlo, Settembre, Carmine, Annunziata, Ida, Wade-Martins, Richard, Domenico, Carmela Di, Natale, Paola Di, Mankad, Anuj, Cox, Barbara, Uziel, Graziella, Mancini, Grazia M.S., Zammarchi, Enrico, Donati, Maria Alice, Kleijer, Wim J., Filocamo, Mirella, Carrozzo, Romeo, Carella, Massimo, Ballabio, Andrea

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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships von Botta, Elena, Offman, Judith, Nardo, Tiziana, Ricotti, Roberta, Zambruno, Giovanna, Sansone, Daniela, Balestri, Paolo, Raams, Anja, Kleijer, Wim J., Jaspers, Nicolaas G.J., Sarasin, Alain, Lehmann, Alan R., Stefanini, Miria

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Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene von LINNEBANK, Michael, TSCHIEDEL, Eva, HÄBERLE, Johannes, LINNEBANK, Anja, WILLENBRING, Holger, KLEIJER, Wim J, KOCH, Hans G

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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 von Wong, Hao Yun, Hoogerbrugge, Jos W, Pang, Kar Lok, van Leeuwen, Marije, van Royen, Martin E, Molier, Michel, Berrevoets, Cor A, Dooijes, Dennis, Dubbink, Hendrikus Jan, van de Wijngaart, Dennis J, Wolffenbuttel, Katja P, Trapman, Jan, Kleijer, Wim J, Drop, Stenvert L S, Grootegoed, J Anton, Brinkmann, Albert O

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Identification and Functional Assessment of Novel and Known Insulin Receptor Mutations in Five Patients with Syndromes of Severe Insulin Resistance von Maassen, J. Antonie, Tobias, Edward S., Kayserilli, Hülya, Tukel, Turgut, Yuksel-Apak, Memnune, d’Haens, Esther, Kleijer, Wim J., Féry, Francoise, van der Zon, Gerard C. M.

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Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings von Zafeiriou, Dimitrios I., J. Kleijer, Wim, Maropoulos, George, Anastasiou, Anastasia L., Augoustidou-Savvopoulou, Persa, Papadopoulou, Freddie, Kontopoulos, Eleftherios E., Fagan, Elizabeth, Payne, Stewart

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Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes von Weber, B, Guo, X H, Kleijer, W J, van de Kamp, J J, Poorthuis, B J, Hopwood, J J

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Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience von Kleijer, Wim J., van der Sterre, Marianne L. T., Garritsen, Victor H., Raams, Anja, Jaspers, Nicolaas G. J.

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Variable clinical presentation of lysosomal β-mannosidosis in patients with null mutations von Bedilu, Rebecca, Nummy, Katherine A, Cooper, Alan, Wevers, Ron, Smeitink, Jan, Kleijer, Wim J, Friderici, Karen H

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Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk von Kleijer, Wim J., van der Sterre, Marianne L. T., Garritsen, Victor H., Raams, Anja, Jaspers, Nicolaas G. J.

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Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia von Kleijer, Wim J., Garritsen, Victor H., van der Sterre, Marianne L. T., Berning, Christoph, Häberle, Johannes, Huijmans, Jan G. M.

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