Table of contents

Letters to JMG

• Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis (9 September, 2005)

  J Steffann, N Frydman, N Gigarel, P Burlet, P F Ray, R Fanchin, E Feyereisen, V Kerbrat, G Tachdjian, J-P Bonnefont, R Frydman, A Munnich
• Congenital hyperinsulinism and mosaic abnormalities of the ploidy (20 July, 2005)

  I Giurgea, D Sanlaville, J-C Fournet, C Sempoux, C Bellanné-Chantelot, G Touati, L Hubert, M-S Groos, F Brunelle, J Rahier, J-C Henquin, M J Dunne, F Jaubert, J-J Robert, C Nihoul-Fékété, M Vekemans, C Junien, P de Lonlay
• Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene (5 August, 2005)

  Z Szabo, M W Crepeau, A L Mitchell, M J Stephan, R A Puntel, K Yin Loke, R C Kirk, Z Urban
• Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases (31 July, 2005)

  C Depienne, C Tallaksen, J Y Lephay, B Bricka, S Poea-Guyon, B Fontaine, P Labauge, A Brice, A Durr
• Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions (1 July, 2005)

  C Howald, G Merla, M C Digilio, S Amenta, R Lyle, S Deutsch, U Choudhury, A Bottani, S E Antonarakis, H Fryssira, B Dallapiccola, A Reymond
• A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type (8 March, 2006)

  M Naeem, M Wajid, K Lee, S M Leal, W Ahmad
• Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins (23 August, 2005)

  D Johnson, N Morrison, L Grant, T Turner, J Fantes, J M Connor, V Murday
• Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma (24 June, 2005)

  M E Baser, T Y Poussaint