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Results: 1-10 |
Results: 10
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
Authors: Lernmers, RJLF de Kievit, P van Geel, M van der Wielen, MJR Bakker, E Padberg, GW Frants, RR van der Maarel, SM
Citation: Rjlf. Lernmers et al., Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis, ANN NEUROL, 50(6), 2001, pp. 816-819
Interchromosomal repeat array interactions between chromosomes 4 and 10: amodel for subtelomeric plasticity
Authors: van Overveld, PGM Lemmers, RJFL Deidda, G Sandkuijl, L Padberg, GW Frants, RR van der Maarel, SM
Citation: Pgm. Van Overveld et al., Interchromosomal repeat array interactions between chromosomes 4 and 10: amodel for subtelomeric plasticity, HUM MOL GEN, 9(19), 2000, pp. 2879-2884
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35
Authors: van Geel, M van Deutekom, JCT van Staalduinen, A Lemmers, RJLF Dickson, MC Hofker, MH Padberg, GW Hewitt, JE de Jong, PJ Frants, RR
Citation: M. Van Geel et al., Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35, CYTOG C GEN, 88(3-4), 2000, pp. 316-321
De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
Authors: van der Maarel, SM Deidda, G Lemmers, RJLF van Overveld, PGM van der Wielen, M Hewitt, JE Sandkuijl, L Bakker, B van Ommen, GJB Padberg, GW Frants, RR
Citation: Sm. Van Der Maarel et al., De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10, AM J HU GEN, 66(1), 2000, pp. 26-35
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations
Authors: Nelen, MR Kremer, H Konings, IBM Schoute, F van Essen, AJ Koch, R Woods, CG Fryns, JP Hamel, B Hoefsloot, LH Peeters, EAJ Padberg, GW
Citation: Mr. Nelen et al., Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations, EUR J HUM G, 7(3), 1999, pp. 267-273
Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?
Authors: Stout, K van der Maarel, S Frants, RR Padberg, GW Ropers, HH Haaf, T
Citation: K. Stout et al., Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?, CHROMOS RES, 7(5), 1999, pp. 323-329
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
Authors: Gabriels, J Beckers, MC Ding, H De Vriese, A Plaisance, S van der Maarel, SM Padberg, GW Frants, RR Hewitt, JE Collen, D Belayew, A
Citation: J. Gabriels et al., Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element, GENE, 236(1), 1999, pp. 25-32
Primary, secondary, and coincidental types of myoadenylate deaminase deficiency - Reply
Authors: Verzijl, HTFM van Engelen, BGM Luyten, JAFM Steenbergen, GCH van den Heuvel, LPWJ ter Laak, HJ Padberg, GW Wevers, RA
Citation: Htfm. Verzijl et al., Primary, secondary, and coincidental types of myoadenylate deaminase deficiency - Reply, ANN NEUROL, 45(4), 1999, pp. 548-548
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
Authors: van der Maarel, SM Deidda, G Lemmers, RJLF Bakker, E van der Wielen, MJR Sandkuijl, L Hewitt, JE Padberg, GW Frants, RR
Citation: Sm. Van Der Maarel et al., A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD), J MED GENET, 36(11), 1999, pp. 823-828
A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family
Authors: Verzijl, HTFM van den Helm, B Veldman, B Hamel, BCJ Kuyt, LP Padberg, GW Kremer, H
Citation: Htfm. Verzijl et al., A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family, AM J HU GEN, 65(3), 1999, pp. 752-756
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