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

Volltext

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.

Volltext

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.

Volltext

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

Volltext

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

Volltext

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.

Volltext

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis von Hanks, Sandra, Adams, Sarah, Douglas, Jenny, Arbour, Laura, Atherton, David J., Balci, Sevim, Bode, Harald, Campbell, Mary E., Feingold, Murray, Keser, Gökhan, Kleijer, Wim, Mancini, Grazia, McGrath, John A., Muntoni, Francesco, Nanda, Arti, Teare, M. Dawn, Warman, Matthew, Pope, F. Michael, Superti-Furga, Andrea, Futreal, P. Andrew, Rahman, Nazneen

Volltext

Genotype Versus Phenotype in Families with Androgen Insensitivity Syndrome von Boehmer, Annemie L. M., Brüggenwirth, Hennie, van Assendelft, Cissy, Otten, Barto J., Verleun-Mooijman, Marja C. T., Niermeijer, Martinus F., Brunner, Han G., Rouwé, Catrienus W., Waelkens, J. J., Oostdijk, Wilma, Kleijer, Wim J., van der Kwast, Theo H., de Vroede, Monique A., Drop, Stenvert L. S.

Volltext

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.

Volltext

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.

Volltext

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.

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

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.

Volltext

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

Volltext

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.

Volltext