Journal of Medical Genetics: 45 (10)

Reviews

Congenital heart disease is a feature of severe infantile spinal muscular atrophy (28 July, 2008)
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients (8 July, 2008)
A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, A Viola, C Angelini, G Novelli
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
(26 August, 2008)
N Bahi-Buisson, K Poirier, N Boddaert, Y Saillour, L Castelnau, N Philip, G Buyse, L Villard, S Joriot, S Marret, M Bourgeois, H Van Esch, L Lagae, J Amiel, L Hertz-Pannier, A Roubertie, F Rivier, J M Pinard, C Beldjord, J Chelly

Heart–hand syndrome of Slovenian type: a new kind of laminopathy (8 July, 2008)
L Renou, S Stora, R Ben Yaou, M Volk, M Šinkovec, L Demay, P Richard, B Peterlin, G Bonne
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (15 July, 2008)
K Buysse, A Crepel, B Menten, F Pattyn, F Antonacci, J A Veltman, L A Larsen, Z Tümer, A de Klein, I van de Laar, K Devriendt, G Mortier, F Speleman
Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients (15 July, 2008)
L Davidovic, S Sacconi, E G Bechara, S Delplace, M Allegra, C Desnuelle, B Bardoni