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| | Editorial |
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| Further growth in 1999 FREE |
| Abstract | PDF |
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| 1 | | | Articles |
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| New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling FREE |
| H J Tanke, J Wiegant, R P M van Gijlswijk, V Bezrookove, H Pattenier, R J Heetebrij, E G Talman, A K Raap & J Vrolijk |
| Abstract | PDF |
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| 2 |
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| An integrated map of chromosome 18 CAG trinucleotide repeat loci FREE |
| Andy J Grierson, Marjon van Groenigen, Nancy PB Groot, Kerstin Lindblad, Jan MN Hoovers, Martin Schalling, Jackie de Belleroche & Frank Baas |
| Abstract | PDF |
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| 12 |
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| Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) FREE |
| Fatima Abidi, Sylvie Jacquot, Christopher Lassiter, Elizabeth Trivier, André Hanauer & Charles E Schwartz |
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| 20 |
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| Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome FREE |
| Vincent El Ghouzzi, Elisabeth Lajeunie, Martine Le Merrer, Valérie Cormier-Daire, Dominique Renier, Arnold Munnich & Jacky Bonaventure |
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| 27 |
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| Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes FREE |
| Birgit Weber, Xiao-Hui Guo, Wim J Kleijer, Jacques JP van de Kamp, Ben JHM Poorthuis & John J Hopwood |
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| 34 |
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| Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene FREE |
| Kristien Verhoeven, Robbert JH Ensink, Valeria Tiranti, Patrick LM Huygen, David F Johnson, Isabelle Schatteman, Lut Van Laer, Margriet Verstreken, Paul Van de Heyning, Nathan Fischel-Ghodsian, Massimo Zeviani, Cor WRJ Cremers, Patrick J Willems & Guy Van Camp |
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| 45 |
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| Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene FREE |
| M Wijker, N V Morgan, S Herterich, C G M van Berkel, A J Tipping, H J Gross, J J P Gille, G Pals, M Savino, C Altay, S Mohan, I Dokal, J Cavenagh, J Marsh, M Van Weel, J J Ortega, D Schuler, E Samochatova, M Karwacki, A N Bekassy, M Abecasis, W Ebell, M L Kwee, T de Ravel, R A Gibson, E Gluckman, F Arwert, H Joenje, A Savoia, H Hoehn, J C Pronk & C G Mathew |
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| 52 | | | Review |
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| Spectrum of mutations in fucosidosis FREE |
| Patrick J Willems, Hee-Chan Seo, Paul Coucke, Rossana Tonlorenzi & John S O'Brien |
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| 60 |
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| Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome FREE |
| Asli Silahtaroglu, Frans A Hol, Peter KA Jensen, Martin Erdel, Hans-Christoph Duba, Monique PA Geurds, Nine VAM Knoers, Edwin CM Mariman, Zeynep Tümer, Gerd Utermann, Jutta Wirth, Merete Bugge & Niels Tommerup |
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| 68 |
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| Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus FREE |
| L Parmentier, C Clepet, O Boughdene-Stambouli, H Lakhdar, C Blanchet-Bardon, L Dubertret, E Wunderle, F Pulcini, C Fizames & J Weissenbach |
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| 77 |
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| Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33 FREE |
| Sandrine Marquet, Laurent Abel, Dominique Hillaire & Alain Dessein |
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| 88 | | | Meeting report |
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| First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders FREE |
| Ann-Christine Syvånen, Ulf Landegren, Anders Isaksson, Ulf Gyllensten & Anthony Brookes |
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| 98 | | | Errata |
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| Errata FREE |
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| 102 |
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| January 1999, Volume 7, Number 1 |
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