Reviews

	Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease S A Abdalla and M Letarte J Med Genet 2006; 43: 97-110. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 6 May 2005. doi:10.1136/jmg.2005.030833

Original articles

	Breakpoints around the HOXD cluster result in various limb malformations B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, M Cohen, S Mundlos, Z Tümer, K Kjaer, U Friedrich, H-H Ropers, N Tommerup, H Neitzel, and V M Kalscheuer J Med Genet 2006; 43: 111-118. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 24 June 2005. doi:10.1136/jmg.2005.033555
	Survivin-directed RNA interference cocktail is a potent suppressor of tumour growth in vivo H Caldas, M P Holloway, B M Hall, S J Qualman, and R A Altura J Med Genet 2006; 43: 119-128. [Abstract] [Full text] [ Corrected figure] [PDF] [Request Permissions]   Published Online First: 20 May 2005. doi:10.1136/jmg.2005.034686
	Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype? M-C Tessier, H-Q Qu, R Fréchette, F Bacot, R Grabs, S P Taback, M L Lawson, S E Kirsch, T J Hudson, and C Polychronakos J Med Genet 2006; 43: 129-132. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 13 July 2005. doi:10.1136/jmg.2005.035212
	Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women B G Haffty, A Silber, E Matloff, J Chung, and D Lannin J Med Genet 2006; 43: 133-137. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 27 June 2005. doi:10.1136/jmg.2005.034744

Short reports

	Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer T Frebourg, C Oliveira, P Hochain, R Karam, S Manouvrier, C Graziadio, M Vekemans, A Hartmann, S Baert-Desurmont, C Alexandre, S Lejeune Dumoulin, C Marroni, C Martin, S Castedo, M Lovett, J Winston, J C Machado, T Attié, E W Jabs, J Cai, Ph Pellerin, J P Triboulet, M Scotte, F Le Pessot, A Hedouin, F Carneiro, M Blayau, and R Seruca J Med Genet 2006; 43: 138-142. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 14 April 2005. doi:10.1136/jmg.2005.031385
	Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections Y Yue, K Stout, B Grossmann, U Zechner, A Brinckmann, C White, D T Pilz, and T Haaf J Med Genet 2006; 43: 143-147. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 20 May 2005. doi:10.1136/jmg.2004.029660
	Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene L Van Maldergem, H A Siitonen, N Jalkh, E Chouery, M De Roy, V Delague, M Muenke, E W Jabs, J Cai, L L Wang, S E Plon, C Fourneau, M Kestilä, Y Gillerot, A Mégarbané, and A Verloes J Med Genet 2006; 43: 148-152. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 17 June 2005. doi:10.1136/jmg.2005.031781

Letters to JMG

	Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family S McVety, L Li, P H Gordon, G Chong, and W D Foulkes J Med Genet 2006; 43: 153-156. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 27 May 2005. doi:10.1136/jmg.2005.031997
	Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation F Donaudy, L Zheng, R Ficarella, E Ballana, M Carella, S Melchionda, X Estivill, J R Bartles, and P Gasparini J Med Genet 2006; 43: 157-161. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 1 June 2005. doi:10.1136/jmg.2005.032086
	Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene C A Hobbs, S J James, A Parsian, P A Krakowiak, S Jernigan, J J Greenhaw, Y Lu, and M A Cleves J Med Genet 2006; 43: 162-166. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 10 June 2005. doi:10.1136/jmg.2005.032656
	The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction P González, M García-Castro, J R Reguero, A Batalla, A G Ordóñez, R L Palop, I Lozano, M Montes, V Álvarez, and E Coto J Med Genet 2006; 43: 167-169. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 15 June 2005. doi:10.1136/jmg.2005.035071
	A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12 D Yan, X Ke, S H Blanton, X M Ouyang, A Pandya, L L Du, W E Nance, and X Z Liu J Med Genet 2006; 43: 170-174. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 15 June 2005. doi:10.1136/jmg.2005.034710
	Sequence variation in mitochondrial complex I genes: mutation or polymorphism? A L Mitchell, J L Elson, N Howell, R W Taylor, and D M Turnbull J Med Genet 2006; 43: 175-179. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 21 June 2005. doi:10.1136/jmg.2005.032474
	Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents C Rosenberg, J Knijnenburg, E Bakker, A M Vianna-Morgante, W Sloos, P A Otto, M Kriek, K Hansson, A C V Krepischi-Santos, H Fiegler, N P Carter, E K Bijlsma, A van Haeringen, K Szuhai, and H J Tanke J Med Genet 2006; 43: 180-186. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 24 June 2005. doi:10.1136/jmg.2005.032268
	Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia K A Kaiser-Rogers, D E McFadden, C A Livasy, J Dansereau, R Jiang, J F Knops, L Lefebvre, K W Rao, and W P Robinson J Med Genet 2006; 43: 187-192. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 20 May 2005. doi:10.1136/jmg.2005.033571

Echoes

	Carriers of mild CFTR mutations risk chronic pancreatitis J Med Genet 2006; 43: 147. [Extract] [Full text] [PDF] [Request Permissions]

Correspondence

	In response to Cadet et al M B Delatycki and K J Allen J Med Genet 2006; 43: e3. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Association of TPH1 with suicidal behaviour and psychiatric disorders in the Chinese population X Liu, H Li, W Qin, G He, D Li, Y Shen, J Shen, N Gu, G Feng, and L He J Med Genet 2006; 43: e4. doi:10.1136/jmg.2004.029397 [Abstract] [Full text] [PDF] [Request Permissions]
	Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome A Uzumcu, E E Norgett, A Dindar, O Uyguner, K Nisli, H Kayserili, S E Sahin, E Dupont, N J Severs, I M Leigh, M Yuksel-Apak, D P Kelsell, and B Wollnik J Med Genet 2006; 43: e5. doi:10.1136/jmg.2005.032904 [Abstract] [Full text] [PDF] [Request Permissions]
	Independent replication and initial fine mapping of 3p21–24 in Asperger syndrome K Rehnström, T Ylisaukko-oja, T Nieminen-von Wendt, S Sarenius, T Källman, E Kempas, L von Wendt, L Peltonen, and I Järvelä J Med Genet 2006; 43: e6. doi:10.1136/jmg.2005.033621 [Abstract] [Full text] [PDF] [Request Permissions]
	Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32–31.1 J Skoglund, T Djureinovic, X-L Zhou, J Vandrovcova, E Renkonen, L Iselius, M L Bisgaard, P Peltomäki, and A Lindblom J Med Genet 2006; 43: e7. doi:10.1136/jmg.2005.033928 [Abstract] [Full text] [PDF] [Request Permissions]
	Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature K A Mensink, R P Ketterling, H C Flynn, R A Knudson, N M Lindor, B A Heese, R J Spinner, and D Babovic-Vuksanovic J Med Genet 2006; 43: e8. doi:10.1136/jmg.2005.034256 [Abstract] [Full text] [PDF] [Request Permissions]
	Testing association between LRRK2 and Parkinson’s disease and investigating linkage disequilibrium C Paisán-Ruíz, E W Evans, S Jain, G Xiromerisiou, J R Gibbs, J Eerola, V Gourbali, O Hellström, J Duckworth, A Papadimitriou, P J Tienari, G M Hadjigeorgiou, and A B Singleton J Med Genet 2006; 43: e9. doi:10.1136/jmg.2005.036889 [Abstract] [Full text] [PDF] [Request Permissions]