Editorials

	The Journal of medical genetics and open access publishing: to choose or not to choose? Eamonn R Maher J Med Genet 2005; 42: 97. doi:10.1136/jmg.2004.030239 [Extract] [Full text] [PDF] [Request Permissions]

Reviews

	Milroy disease and the VEGFR-3 mutation phenotype G Brice, A H Child, A Evans, R Bell, S Mansour, K Burnand, M Sarfarazi, S Jeffery, and P Mortimer J Med Genet 2005; 42: 98-102. doi:10.1136/jmg.2004.024802 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms E Scala, F Ariani, F Mari, R Caselli, C Pescucci, I Longo, I Meloni, D Giachino, M Bruttini, G Hayek, M Zappella, and A Renieri J Med Genet 2005; 42: 103-107. doi:10.1136/jmg.2004.026237 [Abstract] [Full text] [PDF] [Request Permissions]
	Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy A K Lampe, D M Dunn, A C von Niederhausern, C Hamil, A Aoyagi, S H Laval, S K Marie, M-L Chu, K Swoboda, F Muntoni, C G Bonnemann, K M Flanigan, K M D Bushby, and R B Weiss J Med Genet 2005; 42: 108-120. doi:10.1136/jmg.2004.023754 [Abstract] [Full text] [Web-Only Table] [PDF] [Request Permissions]
	Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, A David, T Frebourg, and J M Rival J Med Genet 2005; 42: 121-128. doi:10.1136/jmg.2004.025478 [Abstract] [Full text] [Tables and Figures of Figure 1] [PDF] [Request Permissions]
	Functional interaction between APOE4 and LDL receptor isoforms in Alzheimer’s disease D Cheng, R Huang, I S Lanham, H M Cathcart, M Howard, E H Corder, and S E Poduslo J Med Genet 2005; 42: 129-131. doi:10.1136/jmg.2004.024968 [Abstract] [Full text] [PDF] [Request Permissions]
	Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects J A Lamb, G Barnby, E Bonora, N Sykes, E Bacchelli, F Blasi, E Maestrini, J Broxholme, J Tzenova, D Weeks, A J Bailey, A P Monaco, the International Molecular Genetic Study of Autism Consortium (IMGSAC) J Med Genet 2005; 42: 132-137. doi:10.1136/jmg.2004.025668 [Abstract] [Full text] [Web-only Table] [PDF] [Request Permissions]
	Classification of BRCA1 missense variants of unknown clinical significance C M Phelan, V Dapic, B Tice, R Favis, E Kwan, F Barany, S Manoukian, P Radice, R B van der Luijt, B P M van Nesselrooij, G Chenevix-Trench, kConFab, T Caldes, M de La Hoya, S Lindquist, S V Tavtigian, D Goldgar, Å Borg, S A Narod, and A N A Monteiro J Med Genet 2005; 42: 138-146. doi:10.1136/jmg.2004.024711 [Abstract] [Full text] [Erratum] [PDF] [Request Permissions]

Letters to JMG

	Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, The Breast Cancer Susceptibility Collaboration (UK), K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman, for the Familial Wilms Tumour Collaboration J Med Genet 2005; 42: 147-151. doi:10.1136/jmg.2004.022673 [Extract] [Full text] [PDF] [Request Permissions]
	Mapping of psoriasis to 17q terminus W-L Hwu, C-F Yang, C S J Fann, C-L Chen, T-F Tsai, Y-H Chien, S-C Chiang, C-H Chen, S-I Hung, J-Y Wu, and Y-T Chen J Med Genet 2005; 42: 152-158. doi:10.1136/jmg.2004.018564 [Extract] [Full text] [Web-only Table] [PDF] [Request Permissions]
	SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities S P Pryor, A C Madeo, J C Reynolds, N J Sarlis, K S Arnos, W E Nance, Y Yang, C K Zalewski, C C Brewer, J A Butman, and A J Griffith J Med Genet 2005; 42: 159-165. doi:10.1136/jmg.2004.024208 [Extract] [Full text] [PDF] [Request Permissions]
	Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, and L Colleaux J Med Genet 2005; 42: 166-171. doi:10.1136/jmg.2004.023861 [Extract] [Full text] [Web-only Figures] [PDF] [Request Permissions]
	Association of PLUNC gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population Y He, G Zhou, Y Zhai, X Dong, L Lv, F He, and K Yao J Med Genet 2005; 42: 172-176. doi:10.1136/jmg.2004.022616 [Extract] [Full text] [PDF] [Request Permissions]
	A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families H Koillinen, P Lahermo, J Rautio, J Hukki, M Peyrard-Janvid, and J Kere J Med Genet 2005; 42: 177-184. doi:10.1136/jmg.2004.019646 [Extract] [Full text] [PDF] [Request Permissions]
	Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis S Aretz, D Stienen, S Uhlhaas, C Pagenstecher, E Mangold, R Caspari, P Propping, and W Friedl J Med Genet 2005; 42: 185-192. doi:10.1136/jmg.2004.022822 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Polymorphisms in neprilysin gene affect the risk of Alzheimer’s disease in Finnish patients S Helisalmi, M Hiltunen, S Vepsäläinen, S Iivonen, A Mannermaa, M Lehtovirta, A M Koivisto, I Alafuzoff, and H Soininen J Med Genet 2005; 42: 158. [Extract] [Full text] [PDF] [Request Permissions]

Correspondence

	Non-random transmission of mutant alleles to female offspring in BRCA carriers D G Evans, A Shenton, S Sharif, E Woodward, F Lalloo, and E R Maher J Med Genet 2005; 42: ee6. doi:10.1136/jmg.2004.028514 [Extract] [Full text] [PDF] [Request Permissions]
	R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese H W Hwang, J J Chen, Y J Lin, R C Shieh, M T Lee, S I Hung, J Y Wu, Y T Chen, D M Niu, and B T Hwang J Med Genet 2005; 42: ee7. doi:10.1136/jmg.2004.027995 [Extract] [Full text] [PDF] [Request Permissions]
	Author’s reply: link of SCN5A SNP R1193Q to long QT syndrome Q Wang J Med Genet 2005; 42: ee8. doi:10.1136/jmg.2004.028001 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini, the Italian MTS Study Group J Med Genet 2005; 42: ee9. doi:10.1136/jmg.2004.027375 [Extract] [Full text] [PDF] [Request Permissions]
	The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy J Bond, K Flintoff, J Higgins, S Scott, C Bennet, J Parsons, J Mannon, H Jafri, Y Rashid, M Barrow, R Trembath, G Woodruff, E Rossa, S Lynch, J Sheilds, R Newbury-Ecob, A Falconer, P Holland, D Cockburn, G Karbani, S Malik, M Ahmed, E Roberts, G Taylor, and C G Woods J Med Genet 2005; 42: ee10. doi:10.1136/jmg.2004.026617 [Extract] [Full text] [PDF] [Request Permissions]
	Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, and A Slavotinek J Med Genet 2005; 42: ee11. doi:10.1136/jmg.2004.024091 [Extract] [Full text] [PDF] [Request Permissions]
	Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, and J T Epplen J Med Genet 2005; 42: ee12. doi:10.1136/jmg.2004.023804 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect P Brouillard, M Ghassibé, A Penington, L M Boon, A Dompmartin, I K Temple, M Cordisco, D Adams, F Piette, J I Harper, S Syed, F Boralevi, A Taïeb, S Danda, E Baselga, O Enjolras, J B Mulliken, and M Vikkula J Med Genet 2005; 42: ee13. doi:10.1136/jmg.2004.024174 [Abstract] [Full text] [PDF] [Request Permissions]
	Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS? S Jacquemont, A Orrico, L Galli, P K Sahota, J A Brunberg, C Anichini, M Leehey, S Schaeffer, R J Hagerman, P J Hagerman, and F Tassone J Med Genet 2005; 42: ee14. doi:10.1136/jmg.2004.024190 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome R E Amir, P Fang, Z Yu, D G Glaze, A K Percy, H Y Zoghbi, B B Roa, and I B Van den Veyver J Med Genet 2005; 42: ee15. doi:10.1136/jmg.2004.026161 [Extract] [Full text] [PDF] [Request Permissions]
	Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors A Sarkozy, E Conti, C Neri, R D’Agostino, M C Digilio, G Esposito, A Toscano, B Marino, A Pizzuti, and B Dallapiccola J Med Genet 2005; 42: ee16. doi:10.1136/jmg.2004.026740 [Extract] [Full text] [PDF] [Request Permissions]
	Mutational spectrum of NSDHL in CHILD syndrome D Bornholdt, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, É Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A L Meiss, P A Treadwell, D Lambert, F Camacho, and K-H Grzeschik J Med Genet 2005; 42: ee17. doi:10.1136/jmg.2004.024448 [Extract] [Full text] [PDF] [Request Permissions]