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Articles
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Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?
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1
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Alain Verloes, Yves Gillerot, Lionel Van Maldergem, Roland Schoos, Christian Herens, Mauricette Jamar, Vinciane Dideberg, Sylviane Lesenfants & Lucien Koulischer
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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
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5
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Naomichi Matsumoto, Richard J Leventer, Julie A Kuc, Stephanie K Mewborn, Laura L Dudlicek, Melissa B Ramocki, Daniela T Pilz, Patti L Mills, Soma Das, M Elizabeth Ross, David H Ledbetter & William B Dobyns
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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40
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13
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Frank Tiecke, Stefanie Katzke, Patrick Booms, Peter N Robinson, Luitgard Neumann, Maurice Godfrey, Kurt R Mathews, Maren Scheuner, Georg Klaus Hinkel, Rolf E Brenner, Hedwig H Hövels-Gürich, Christian Hagemeier, Josefine Fuchs, Flemming Skovby & Thomas Rosenberg
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Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392
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22
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Almut Nebel, Dvora Filon, Carsten Hohoff, Marina Faerman, Bernd Brinkmann & Ariella Oppenheim
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Y chromosome analysis reveals a sharp genetic boundary in the Carpathian region
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27
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Mihaela Stefan, Gheorge Stefanescu, Lucian Gavrila, Luciano Terrenato, Mark A Jobling, Patrizia Malaspina & Andrea Novelletto
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Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC
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34
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Alexandre Irrthum, Pascal Brouillard, Odile Enjolras, Neil F Gibbs, Lawrence F Eichenfield, Bjorn R Olsen, John B Mulliken, Laurence M Boon & Miikka Vikkula
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2–q11.2 in a large Turkish pedigree
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39
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U Radhakrishna, S Senol, H Herken, K Gucuyener, C Gehrig, J-L Blouin, N A Akarsu & S E Antonarakis
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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
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45
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M Witsch-Baumgartner, E Ciara, J Löffler, H J Menzel, U Seedorf, J Burn, G Gillessen-Kaesbach, G F Hoffmann, B U Fitzky, H Mundy, P Clayton, R I Kelley, M Krajewska-Walasek & G Utermann
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Short Reports
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Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
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51
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Issam Mansour, Valérie Delague, Cécile Cazeneuve, Catherine Dodé, Eliane Chouery, Christophe Pêcheux, Myrna Medlej-Hashim, Nabiha Salem, Loubna El Zein, Isabelle Levan-Petit, Gérard Lefranc, Michel Goossens, Marc Delpech, Serge Amselem, Jacques Loiselet, Gilles Grateau, André Mégarbane & Roger Naman
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Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation
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56
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Tim P Hutchin, Nicholas J Lench, Svetlana Arbuzova, Alexander F Markham & Robert F Mueller
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Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G
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59
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Jukka S Moilanen & Kari Majamaa
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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance
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63
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Ebun Aganna, Ivona Aksentijevich, Graham A Hitman, Daniel L Kastner, Andy IM Hoepelman, Fokke D Posma, Egbert JK Zweers & Michael F McDermott
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Letters
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CFTR and asthma in the French EGEA study
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67
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Rafael de Cid, Jean-Claude Chomel, Conxi Lazaro, Jordi Sunyer, Marlene Baudis, Teresa Casals, Nicole Le Moual, Alain Kitzis, Josue Feingold, Josep Anto, Xavier Estivill & Francine Kauffmann
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R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
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70
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N López-Bigas, R Rabionet, M L Arbonés & X Estivill
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Reply to letter from N López-Bigas et al
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70
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David Kelsell
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