Clinical features of type 2 Stickler syndromeA V Poulson, J M M Hooymans, A J Richards, P Bearcroft, R Murthy, D M Baguley, J D Scott, M P Snead
30 July 2004
Expression analysis of an FGFR2 IIIc 5′ splice site mutation (1084+3A→G)R Kan, S R F Twigg, J Berg, L Wang, F Jin, A O M Wilkie
30 July 2004
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)V Berry, Z Yang, P K F Addison, P J Francis, A Ionides, G Karan, L Jiang, W Lin, J Hu, R Yang, A Moore, K Zhang, S S Bhattacharya
30 July 2004
Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutationsE Renkonen, H Lohi, H J Järvinen, J-P Mecklin, P Peltomäki
2 July 2004
Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotypeS Symoens, L Nuytinck, E Legius, F Malfait, P J Coucke, A De Paepe
2 July 2004
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese familyA Okubo, O Miyoshi, K Baba, M Takagi, K Tsukamoto, A Kinoshita, K Yoshiura, T Kishino, T Ohta, N Niikawa, N Matsumoto
2 July 2004
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS geneS Tomatsu, T Nishioka, A M Montaño, M A Gutierrez, O S Pena, K O Orii, W S Sly, S Yamaguchi, T Orii, E Paschke, S G Kircher, A Noguchi
2 July 2004
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical featuresR F Badenhop, J C Jansen, P A Fagan, R S A Lord, Z G Wang, W J Foster, P R Schofield
2 July 2004
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndromeV Fremeaux-Bacchi, M-A Dragon-Durey, J Blouin, C Vigneau, D Kuypers, B Boudailliez, C Loirat, E Rondeau, W H Fridman
1 June 2004
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 casesF Kammoun, N de Roux, O Boespflug-Tanguy, L Vallée, R Seng, M Tardieu, P Landrieu
1 June 2004