Reviews

	What you can learn from one gene: GLI3 L G Biesecker J Med Genet 2006; 43: 465-469. doi:10.1136/jmg.2004.029181 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2 A Saxena, D de Lagarde, H Leonard, S L Williamson, V Vasudevan, J Christodoulou, E Thompson, P MacLeod, and D Ravine J Med Genet 2006; 43: 470-477. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036244
	Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities J B Ravnan, J H Tepperberg, P Papenhausen, A N Lamb, J Hedrick, D Eash, D H Ledbetter, and C L Martin J Med Genet 2006; 43: 478-489. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 30 September 2005. doi:10.1136/jmg.2005.036350
	Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly G Breedveld, I F de Coo, M H Lequin, W F M Arts, P Heutink, D B Gould, S W M John, B Oostra, and G M S Mancini J Med Genet 2006; 43: 490-495. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 17 August 2005. doi:10.1136/jmg.2005.035584
	Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype C Bendavid, B R Haddad, A Griffin, M Huizing, C Dubourg, I Gicquel, L R Cavalli, L Pasquier, A L Shanske, R Long, M Ouspenskaia, S Odent, F Lacbawan, V David, and M Muenke J Med Genet 2006; 43: 496-500. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 30 September 2005. doi:10.1136/jmg.2005.037176
	MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability K B Niendorf, W Goggins, G Yang, K Y Tsai, M Shennan, D W Bell, A J Sober, D Hogg, and H Tsao J Med Genet 2006; 43: 501-506. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 16 September 2005. doi:10.1136/jmg.2005.032441
	A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history R A Kittles, A B Baffoe-Bonnie, T Y Moses, C M Robbins, C Ahaghotu, P Huusko, C Pettaway, S Vijayakumar, J Bennett, G Hoke, T Mason, S Weinrich, J M Trent, F S Collins, S Mousses, J Bailey-Wilson, P Furbert-Harris, G Dunston, I J Powell, and J D Carpten J Med Genet 2006; 43: 507-511. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 9 September 2005. doi:10.1136/jmg.2005.035790
	Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations T Sahoo, S U Peters, N S Madduri, D G Glaze, J R German, L M Bird, R Barbieri-Welge, T J Bichell, A L Beaudet, and C A Bacino J Med Genet 2006; 43: 512-516. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 23 September 2005. doi:10.1136/jmg.2005.036913
	Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients U Hüffmeier, M Steffens, H Burkhardt, J Lascorz, F Schürmeier-Horst, M Ständer, R Kelsch, C Baumann, W Küster, R Mössner, K Reich, T F Wienker, H Traupe, and A Reis J Med Genet 2006; 43: 517-522. [Abstract] [Full text] [Web-only table] [PDF] [Request Permissions]   Published Online First: 9 December 2005. doi:10.1136/jmg.2005.037515

Short reports

	Increased risk of cancer in patients with fumarate hydratase germline mutation H J Lehtonen, M Kiuru, S K Ylisaukko-oja, R Salovaara, R Herva, P A Koivisto, O Vierimaa, K Aittomäki, E Pukkala, V Launonen, and L A Aaltonen J Med Genet 2006; 43: 523-526. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 9 September 2005. doi:10.1136/jmg.2005.036400

Letters to JMG

	Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation M M Trudeau, J C Dalton, J W Day, L P W Ranum, and M H Meisler J Med Genet 2006; 43: 527-530. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 19 October 2005. doi:10.1136/jmg.2005.035667
	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome G Bougeard, S Baert-Desurmont, I Tournier, S Vasseur, C Martin, L Brugieres, A Chompret, B Bressac-de Paillerets, D Stoppa-Lyonnet, C Bonaiti-Pellie, and T Frebourg J Med Genet 2006; 43: 531-533. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 28 October 2005. doi:10.1136/jmg.2005.037952
	Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region A Tagariello, R Heller, A Greven, V M Kalscheuer, T Molter, A Rauch, W Kress, and A Winterpacht J Med Genet 2006; 43: 534-540. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 28 October 2005. doi:10.1136/jmg.2005.037820
	A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome U Hehr, A Hehr, G Uyanik, E Phelan, J Winkler, and W Reardon J Med Genet 2006; 43: 541-544. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 18 November 2005. doi:10.1136/jmg.2005.038505

Electronic letters

	CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea A Oshima, S Suzuki, Y Takumi, K Hashizume, S Abe, and S Usami J Med Genet 2006; 43: e25. doi:10.1136/jmg.2005.034397 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic evidence for the role of loci at 19q13 in cleft lip and palate A Warrington, A R Vieira, K Christensen, I M Orioli, E E Castilla, P A Romitti, and J C Murray J Med Genet 2006; 43: e26. doi:10.1136/jmg.2005.034785 [Abstract] [Full text] [PDF] [Request Permissions]
	Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28 A Melamud, G-Q Shen, D Chung, Q Xi, E Simpson, L Li, N S Peachey, H Zegarra, S A Hagstrom, Q K Wang, and E I Traboulsi J Med Genet 2006; 43: e27. doi:10.1136/jmg.2005.031518 [Abstract] [Full text] [PDF] [Request Permissions]
	A mutation of the p63 gene in non-syndromic cleft lip P Leoyklang, P Siriwan, and V Shotelersuk J Med Genet 2006; 43: e28. doi:10.1136/jmg.2005.036442 [Abstract] [Full text] [PDF] [Request Permissions]
	The cystic fibrosis transmembrane conductance regulator (Cftr) modulates the timing of puberty in mice R Jin, C A Hodges, M L Drumm, and M R Palmert J Med Genet 2006; 43: e29. doi:10.1136/jmg.2005.032839 [Abstract] [Full text] [PDF] [Request Permissions]
	Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene H Lubs, F E Abidi, R Echeverri, L Holloway, A Meindl, R E Stevenson, and C E Schwartz J Med Genet 2006; 43: e30. doi:10.1136/jmg.2005.037556 [Abstract] [Full text] [PDF] [Request Permissions]
	A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3 D J Verlaan, M-P Dubé, J St-Onge, A Noreau, J Roussel, N Satgé, M C Wallace, and G A Rouleau J Med Genet 2006; 43: e31. doi:10.1136/jmg.2005.033209 [Abstract] [Full text] [Web-only figure] [PDF] [Request Permissions]