A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instabilityO Caluseriu, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi
1 March 2004
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interactionM C Richards, S E Heron, H E Spendlove, I E Scheffer, B Grinton, S F Berkovic, J C Mulley, A Davy
1 March 2004
Genetic and epigenetic profile of sporadic pheochromocytomasA Cascon, S Ruiz-Llorente, M F Fraga, R Leton, D Telleria, J Sastre, J Jose Diez, G Martinez Diaz-Guerra, J A Diaz Perez, J Benitez, M Esteller, M Robledo
1 March 2004
Extending the p16-Leiden tumour spectrum by respiratory tract tumoursR A Oldenburg, W H de Vos tot Nederveen Cappel, M van Puijenbroek, A van den Ouweland, E Bakker, G Griffioen, P Devilee, C J Cornelisse, H Meijers-Heijboer, H F A Vasen, H Morreau
1 March 2004
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 geneM Ghassibé, N Revencu, B Bayet, Y Gillerot, R Vanwijck, C Verellen-Dumoulin, M Vikkula
2 February 2004
Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entityP Cerruti Mainardi, G Pastore, C Zweier, A Rauch
2 February 2004
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotypeM M O Tonini, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, M Zatz
2 February 2004
Loss of five amino acids in BRCA2 is associated with ovarian cancerS L Martinez, J Herzog, J N Weitzel
2 February 2004
Mitochondrial DNA deletion in “identical” twin brothersE L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull
2 February 2004
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3S Johnson, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt
2 February 2004