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Results: 1-22 |
Results: 22
A temperature-sensitive disorder in basal transcription and DNA repair in humans
Authors: Vermeulen, W Rademakers, S Jaspers, NGJ Appeldoorn, E Raams, A Klein, B Kleijer, WJ Hansen, LK Hoeijmakers, JHJ
Citation: W. Vermeulen et al., A temperature-sensitive disorder in basal transcription and DNA repair in humans, NAT GENET, 27(3), 2001, pp. 299-303
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Authors: Kleijer, WJ van Diggelen, OP Keulemans, JLM Losekoot, M Garritsen, VH Stroink, H Majoor-Krakauer, D Franken, PF Eurlings, MCM Taschner, PEM Los, FJ Galjaard, RJH
Citation: Wj. Kleijer et al., First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis, PRENAT DIAG, 21(2), 2001, pp. 99-101
Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome
Authors: van Haelst, MM Hoogeboom, J Galjaard, RJH Kleijer, WJ den Hollander, NS de Krijger, RR Hennekam, RCM Niermeijer, MF
Citation: Mm. Van Haelst et al., Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome, AM J MED G, 104(1), 2001, pp. 65-68
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy
Authors: Zafeiriou, DI Thorel, F Andreou, A Kleijer, WJ Raams, A Garritsen, VH Gombakis, N Jaspers, NGJ Clarkson, SG
Citation: Di. Zafeiriou et al., Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy, PEDIAT RES, 49(3), 2001, pp. 407-412
Genotype versus phenotype in families with androgen insensitivity syndrome
Authors: Boehmer, ALM Bruggenwirth, H Van Assendelft, C Otten, BJ Verleun-Mooijman, MCT Niermeijer, MF Brunner, HG Rouwe, CW Waelkens, JJ Oostdijk, W Kleijer, WJ Van der Kwast, TH De Vroede, MA Drop, SLS
Citation: Alm. Boehmer et al., Genotype versus phenotype in families with androgen insensitivity syndrome, J CLIN END, 86(9), 2001, pp. 4151-4160
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
Authors: Graham, JM Anyane-Yeboa, K Raams, A Appeldoorn, E Kleijer, WJ Garritsen, VH Busch, D Edersheim, TG Jaspers, NGJ
Citation: Jm. Graham et al., Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy, AM J HU GEN, 69(2), 2001, pp. 291-300
Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group
Authors: Christomanou, H Vanier, MT Santambrogio, P Arosio, P Kleijer, WJ Harzer, K
Citation: H. Christomanou et al., Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group, MOL GEN MET, 70(3), 2000, pp. 196-202
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene
Authors: Lagerstedt, K Carlberg, BM Karimi-Nejad, R Kleijer, WJ Bondeson, ML
Citation: K. Lagerstedt et al., Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene, HUM MUTAT, 15(4), 2000, pp. 324-331
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
Authors: Sistermans, EA de Coo, RFM van Beerendonk, HM Poll-The, BT Kleijer, WJ van Oost, BA
Citation: Ea. Sistermans et al., Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population, EUR J HUM G, 8(7), 2000, pp. 557-560
In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
Authors: Den Hollander, NS Kleijer, WJ Schoonderwaldt, EM Los, FJ Wladimiroff, JW Niermeijer, MF
Citation: Ns. Den Hollander et al., In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency, ULTRASOUN O, 16(1), 2000, pp. 87-90
First-trimester diagnosis of Morquio disease type A
Authors: Kleijer, WJ Geilen, GC Garritsen, V Huijmans, JGM Los, FJ Voznyi, YV van Diggelen, OP
Citation: Wj. Kleijer et al., First-trimester diagnosis of Morquio disease type A, PRENAT DIAG, 20(3), 2000, pp. 183-185
Prenatal diagnosis of the neuronal ceroid lipofuscinoses
Authors: Kleijer, WJ van Diggelen, OP
Citation: Wj. Kleijer et Op. Van Diggelen, Prenatal diagnosis of the neuronal ceroid lipofuscinoses, PRENAT DIAG, 20(10), 2000, pp. 819-821
Cranial MRI in the Nijmegen breakage syndrome
Authors: Bekiesinska-Figatowska, M Chrzanowska, KH Sikorska, J Walecki, J Krajewska-Walasek, M Jozwiak, S Kleijer, WJ
Citation: M. Bekiesinska-figatowska et al., Cranial MRI in the Nijmegen breakage syndrome, NEURORADIOL, 42(1), 2000, pp. 43-47
Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients
Authors: Mancini, GMS Stojanov, L Willemsen, R Kleijer, WJ Huijmans, JGM van Diggelen, OP de Klerk, JBC Vuzevski, VD Oranje, AP
Citation: Gms. Mancini et al., Juvenile hyaline fibromatosis: Clinical heterogeneity in three patients, DERMATOLOGY, 198(1), 1999, pp. 18-25
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Authors: Weber, B Guo, XH Kleijer, WJ van de Kamp, JJP Poorthuis, BJHM Hopwood, JJ
Citation: B. Weber et al., Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes, EUR J HUM G, 7(1), 1999, pp. 34-44
Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings:identical clinical and magnetic resonance imaging findings
Authors: Zafeiriou, DI Kleijer, WJ Maropoulos, G Anastasiou, AL Augoustidou-Savvopoulou, P Papadopoulou, F Kontopoulos, EE Fagan, E Payne, S
Citation: Di. Zafeiriou et al., Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings:identical clinical and magnetic resonance imaging findings, BRAIN DEVEL, 21(3), 1999, pp. 205-208
The frequency of lysosomal storage diseases in The Netherlands
Authors: Poorthuis, BJHM Wevers, RA Kleijer, WJ Groener, JEM de Jong, JGN van Weely, S Niezen-Koning, KE van Diggelen, OP
Citation: Bjhm. Poorthuis et al., The frequency of lysosomal storage diseases in The Netherlands, HUM GENET, 105(1-2), 1999, pp. 151-156
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Authors: Van Kuilenburg, ABP Vreken, P Abeling, NGGM Bakker, HD Meinsma, R Van Lenthe, H De Abreu, RA Smeitink, JAM Kayserili, H Apak, MY Christensen, E Holopainen, I Pulkki, K Riva, D Botteon, G Holme, E Tulinius, R Kleijer, WJ Beemer, FA Duran, M Niezen-Koning, KE Smit, GPA Jakobs, C Smit, LME Moog, U Spaapen, LJM Van Gennip, AH
Citation: Abp. Van Kuilenburg et al., Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency, HUM GENET, 104(1), 1999, pp. 1-9
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
Authors: de Vries, BBA Kleijer, WJ Keulemans, JLM Voznyi, YV Franken, PF Eurlings, MCM Galjaard, RJ Losekoot, M Catsman-Berrevoets, CE Breuning, MH Taschner, PEM van Diggelen, OP
Citation: Bba. De Vries et al., First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis, PRENAT DIAG, 19(6), 1999, pp. 559-562
Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases
Authors: van den Berg, C Braat, APG Van Opstal, D Halley, DJJ Kleijer, WJ den Hollander, NS Brandenburg, H Pijpers, L Los, FJ
Citation: C. Van Den Berg et al., Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases, PRENAT DIAG, 19(3), 1999, pp. 234-244
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Authors: Voznyi, YV Keulemans, JLM Mancini, GMS Catsman-Berrevoets, CE Young, E Winchester, B Kleijer, WJ van Diggelen, OP
Citation: Yv. Voznyi et al., A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants, J MED GENET, 36(6), 1999, pp. 471-474
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novelalpha-N-acetylglucosaminidase gene mutations
Authors: Bunge, S Knigge, A Steglich, C Kleijer, WJ van Diggelen, OP Beck, M Gal, A
Citation: S. Bunge et al., Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novelalpha-N-acetylglucosaminidase gene mutations, J MED GENET, 36(1), 1999, pp. 28-31
Risultati: 1-22 |