Table of contents

Original articles

• Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial (23 October, 2008)

  H Schmidt, W Kern, R Giese, M Hallschmid, A Enders
• Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant (11 June, 2008)

  F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels, H Stewart, R C Hennekam, G M Cooper, R Regan, S J L Knight, E E Eichler, J R Vermeesch
• Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

  (16 December, 2008)

  A Willaert, F Malfait, S Symoens, K Gevaert, H Kayserili, A Megarbane, G Mortier, J G Leroy, P J Coucke, A De Paepe
• Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders (19 September, 2008)

  D T Miller, Y Shen, L A Weiss, J Korn, I Anselm, C Bridgemohan, G F Cox, H Dickinson, J Gentile, D J Harris, V Hegde, R Hundley, O Khwaja, S Kothare, C Luedke, R Nasir, A Poduri, K Prasad, P Raffalli, A Reinhard, S E Smith, M M Sobeih, J S Soul, J Stoler, M Takeoka, W-H Tan, J Thakuria, R Wolff, R Yusupov, J F Gusella, M J Daly, B-L Wu
• The molecular landscape of ASPM mutations in primary microcephaly

  (21 November, 2008)

  A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns, C G Woods
• Risk reducing mastectomy: outcomes in 10 European centres (7 November, 2008)

  D G R Evans, A D Baildam, E Anderson, A Brain, A Shenton, H F A Vasen, D Eccles, A Lucassen, G Pichert, H Hamed, P Moller, L Maehle, P J Morrison, D Stoppat-Lyonnet, H Gregory, E Smyth, D Niederacher, C Nestle-Krämling, J Campbell, P Hopwood, F Lalloo, A Howell
• Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1) (9 December, 2008)

  T Tucker, C Schnabel, M Hartmann, R E Friedrich, I Frieling, H-P Kruse, V-F Mautner, J M Friedman
• A pilot open label, single dose trial of fenobam in adults with fragile X syndrome (6 January, 2009)

  E Berry-Kravis, D Hessl, S Coffey, C Hervey, A Schneider, J Yuhas, J Hutchison, M Snape, M Tranfaglia, D V Nguyen, R Hagerman