Original articles

	Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, T de Ravel, S Van Vooren, I Balikova, L Backx, S Janssens, A De Paepe, B De Moor, Y Moreau, P Marynen, J-P Fryns, G Mortier, K Devriendt, F Speleman, and J R Vermeesch J Med Genet 2006; 43: 625-633. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 20 February 2006. doi:10.1136/jmg.2005.039453
	Mutations of human TMHS cause recessively inherited non-syndromic hearing loss M I Shabbir, Z M Ahmed, S Y Khan, Saima Riazuddin, A M Waryah, S N Khan, R D Camps, M Ghosh, M Kabra, I A Belyantseva, T B Friedman, and Sheikh Riazuddin J Med Genet 2006; 43: 634-640. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 3 February 2006. doi:10.1136/jmg.2005.039834
	Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants R Varki, S Sadowski, E Pfendner, and J Uitto J Med Genet 2006; 43: 641-652. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 10 February 2006. doi:10.1136/jmg.2005.039685
	Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome C-W Lu, J-H Lin, Y S Rajawat, H Jerng, T G Rami, X Sanchez, G DeFreitas, B Carabello, F DeMayo, D L Kearney, G Miller, H Li, P J Pfaffinger, N E Bowles, D S Khoury, and J A Towbin J Med Genet 2006; 43: 653-659. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 29 March 2006. doi:10.1136/jmg.2006.040816
	Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study M D Graf, L Christ, J T Mascarello, P Mowrey, M Pettenati, G Stetten, P Storto, U Surti, D L Van Dyke, G H Vance, D Wolff, and S Schwartz J Med Genet 2006; 43: 660-664. doi:10.1136/jmg.2005.037887 [Abstract] [Full text] [PDF] [Request Permissions]

Medical genetics in practice

	Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder G K Suthers, J Armstrong, J McCormack, and D Trott J Med Genet 2006; 43: 665-670. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 21 December 2005. doi:10.1136/jmg.2005.039172

Letters to JMG

	Tissue specific distribution of the 3243AG mtDNA mutation A L Frederiksen, P H Andersen, K O Kyvik, T D Jeppesen, J Vissing, and M Schwartz J Med Genet 2006; 43: 671-677. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 20 February 2006. doi:10.1136/jmg.2005.039339
	Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection R Dawes, B Hennig, W Irving, S Petrova, S Boxall, V Ward, D Wallace, D C Macallan, M Thursz, A Hill, W Bodmer, P C L Beverley, and E Z Tchilian J Med Genet 2006; 43: 678-684. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 27 February 2006. doi:10.1136/jmg.2005.040485
	Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis W A Cabral, S Milgrom, A D Letocha, E Moriarty, and J C Marini J Med Genet 2006; 43: 685-690. doi:10.1136/jmg.2005.040493 [Abstract] [Full text] [PDF] [Request Permissions]
	Predicting disease genes using protein–protein interactions M Oti, B Snel, M A Huynen, and H G Brunner J Med Genet 2006; 43: 691-698. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]   Published Online First: 12 April 2006. doi:10.1136/jmg.2006.041376
	X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene R Jalkanen, M Mäntyjärvi, R Tobias, J Isosomppi, E-M Sankila, T Alitalo, and N T Bech-Hansen J Med Genet 2006; 43: 699-704. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 27 February 2006. doi:10.1136/jmg.2006.040741

Correspondence

	Reply to Dr Raux et al.: Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update (J Med Genet 2005;42:793–5) A J Larner and M Doran J Med Genet 2006; 43: e44. doi:10.1136/jmg.2005.040121 [Extract] [Full text] [PDF] [Request Permissions]
	Somatic mutations in cardiac malformations S M Reamon-Buettner and J Borlak J Med Genet 2006; 43: e45. doi:10.1136/jmg.2006.040907 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region S Russo, P Finelli, M P Recalcati, S Ferraiuolo, F Cogliati, B Dalla Bernardina, M G Tibiletti, M Agosti, M Sala, M T Bonati, and L Larizza J Med Genet 2006; 43: e39. doi:10.1136/jmg.2005.038398 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic predictors for acute experimental cold and heat pain sensitivity in humans H Kim, D P Mittal, M J Iadarola, and R A Dionne J Med Genet 2006; 43: e40. doi:10.1136/jmg.2005.036079 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
	STK11 status and intussusception risk in Peutz-Jeghers syndrome N Hearle, V Schumacher, F H Menko, S Olschwang, L A Boardman, J J P Gille, J J Keller, A M Westerman, R J Scott, W Lim, J D Trimbath, F M Giardiello, S B Gruber, G J A Offerhaus, F W M D E Rooij, J H P Wilson, A Hansmann, G Möslein, B Royer-Pokora, T Vogel, R K S Phillips, A D Spigelman, and R S Houlston J Med Genet 2006; 43: e41. doi:10.1136/jmg.2005.040535 [Abstract] [Full text] [PDF] [Request Permissions]
	CYP19 haplotypes increase risk for Alzheimer’s disease R Huang and S E Poduslo J Med Genet 2006; 43: e42. doi:10.1136/jmg.2005.039461 [Abstract] [Full text] [PDF] [Request Permissions]
	Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France A Guénégou, B Leynaert, J Bénessiano, I Pin, P Demoly, F Neukirch, J Boczkowski, and M Aubier J Med Genet 2006; 43: e43. doi:10.1136/jmg.2005.039743 [Abstract] [Full text] [PDF] [Request Permissions]