Reviews

	Ocular coloboma: a reassessment in the age of molecular neuroscience C Y Gregory-Evans, M J Williams, S Halford, and K Gregory-Evans J Med Genet 2004; 41: 881-891. doi:10.1136/jmg.2004.025494 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) D A Koolen, W M Nillesen, M H A Versteeg, G F M Merkx, N V A M Knoers, M Kets, S Vermeer, C M A van Ravenswaaij, C G de Kovel, H G Brunner, D Smeets, B B A de Vries, and E A Sistermans J Med Genet 2004; 41: 892-899. doi:10.1136/jmg.2004.023671 [Abstract] [Full text] [PDF] [Request Permissions]
	Genome-wide scan linkage analysis for Parkinson’s disease: the European genetic study of Parkinson’s disease M Martinez, A Brice, J R Vaughan, A Zimprich, M M B Breteler, G Meco, A Filla, M J Farrer, C Bétard, J Hardy, G De Michele, V Bonifati, B Oostra, T Gasser, N W Wood, A Dürr, the French Parkinson’s Disease Genetics Study Group, the European Consortium on Genetic Susceptibility in Parkinson’s Disease J Med Genet 2004; 41: 900-907. doi:10.1136/jmg.2004.022632 [Abstract] [Full text] [PDF] [Request Permissions]
	Detection of aneuploidies by paralogous sequence quantification S Deutsch, U Choudhury, G Merla, C Howald, A Sylvan, and S E Antonarakis J Med Genet 2004; 41: 908-915. doi:10.1136/jmg.2004.023184 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular karyotyping using an SNP array for genomewide genotyping A Rauch, F Rüschendorf, J Huang, U Trautmann, C Becker, C Thiel, K W Jones, A Reis, and P Nürnberg J Med Genet 2004; 41: 916-922. doi:10.1136/jmg.2004.022855 [Abstract] [Full text] [PDF] [Request Permissions]
	A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions K J Griffin, L S Kirschner, L Matyakhina, S G Stergiopoulos, A Robinson-White, S M Lenherr, F D Weinberg, E S Claflin, D Batista, I Bourdeau, A Voutetakis, F Sandrini, E M Meoli, A J Bauer, Y S Cho-Chung, S R Bornstein, J A Carney, and C A Stratakis J Med Genet 2004; 41: 923-931. doi:10.1136/jmg.2004.028043 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation S Caburet, A Demarez, L Moumné, M Fellous, E De Baere, and R A Veitia J Med Genet 2004; 41: 932-936. doi:10.1136/jmg.2004.024356 [Abstract] [Full text] [PDF] [Request Permissions]
	Parkinsonism among Gaucher disease carriers O Goker-Alpan, R Schiffmann, M E LaMarca, R L Nussbaum, A McInerney-Leo, and E Sidransky J Med Genet 2004; 41: 937-940. doi:10.1136/jmg.2004.024455 [Abstract] [Full text] [PDF] [Request Permissions]
	Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8 J Ausseil, J C Loredo-Osti, A Verner, C Darmond-Zwaig, I Maire, B Poorthuis, O P van Diggelen, T J Hudson, T M Fujiwara, K Morgan, and A V Pshezhetsky J Med Genet 2004; 41: 941-945. doi:10.1136/jmg.2004.021501 [Abstract] [Full text] [PDF] [Request Permissions]
	The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis L Valenti, D Conte, A Piperno, P Dongiovanni, A L Fracanzani, M Fraquelli, A Vergani, C Gianni, L Carmagnola, and S Fargion J Med Genet 2004; 41: 946-950. doi:10.1136/jmg.2004.019588 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation M T Howard, N Malik, C B Anderson, J L A Voskuil, J F Atkins, and R J Gibbons J Med Genet 2004; 41: 951-956. doi:10.1136/jmg.2004.020248 [Extract] [Full text] [Web-only Figures] [PDF] [Request Permissions]

Letters

	Correction: no evidence of an association between the T16189C mtDNA variant and late onset dementia (Gibson et al) J Poulton and S Das J Med Genet 2004; 41: 957. doi:10.1136/jmg.2004.019208 [Extract] [Full text] [PDF] [Request Permissions]
	No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia S M Keers, A M Gibson, D M Turnbull, and P F Chinnery J Med Genet 2004; 41: 957-958. doi:10.1136/jmg.2004.022467 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Statistical Methods in Genetic Epidemiology M P Zeegers J Med Genet 2004; 41: 958. doi:10.1136/jmg.2004.021113 [Extract] [Full text] [PDF] [Request Permissions]
	Human Evolutionary Genetics: Origins, Peoples & Disease D M Swallow J Med Genet 2004; 41: 958-959. doi:10.1136/jmg.2004.019133 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation S Kurihara, Y Adachi, C Imai, H Araki, N Hattori, C Numakura, Y Lin, K Hayasaka, G Sobue, and K Nakashima J Med Genet 2004; 41: 915. [Extract] [Full text] [PDF] [Request Permissions]
	Association between a functional polymorphism in the serotonin transporter gene and diarrhoea predominant irritable bowel syndrome in women A Yeo, P Boyd, S Lumsden, T Saunders, A Handley, M Stubbins, A Knaggs, S Asquith, I Taylor, B Bahari, N Crocker, R Rallan, S Varsani, D Montgomery, D H Alpers, G E Dukes, I Purvis, and G A Hicks J Med Genet 2004; 41: 945. [Extract] [Full text] [PDF] [Request Permissions]
	Dynamic changes of gene expression profiles during postnatal development of the heart in mice H-W Chen, S-L Yu, W-J Chen, P-C Yang, C-T Chien, H-Y Chou, H-N Li, K Peck, C-H Huang, F-Y Lin, J J W Chen, and Y-T Lee J Med Genet 2004; 41: 950. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction J Med Genet 2004; 41: 959. doi:10.1136/jmg.2004.020644corr1 [Extract] [Full text] [PDF] [Request Permissions]
	Correction J Med Genet 2004; 41: 960. doi:10.1136/jmg.2004.022111corr1 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms N Muncke, B S Wogatzky, M Breuning, E A Sistermans, V Endris, M Ross, D Vetrie, C E Catsman-Berrevoets, and G Rappold J Med Genet 2004; 41: e121. doi:10.1136/jmg.2004.019141 [Extract] [Full text] [PDF] [Request Permissions]
	Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element P Albrecht, J Bode, K Buiting, A K Prashanth, and D R Lohmann J Med Genet 2004; 41: e122. doi:10.1136/jmg.2004.021923 [Extract] [Full text] [PDF] [Request Permissions]
	Sex specific protective effects of interleukin-9 receptor haplotypes on childhood wheezing and sensitisation E Melén, H Gullstén, M Zucchelli, A Lindstedt, F Nyberg, M Wickman, G Pershagen, and J Kere J Med Genet 2004; 41: e123. doi:10.1136/jmg.2004.023135 [Extract] [Full text] [PDF] [Request Permissions]
	Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism G Zsurka, R Schröder, C Kornblum, J Rudolph, R J Wiesner, C E Elger, and W S Kunz J Med Genet 2004; 41: e124. doi:10.1136/jmg.2004.022566 [Extract] [Full text] [PDF] [Request Permissions]
	SCAMP: a spreadsheet to collate autozygosity mapping projects T Forshew and C A Johnson J Med Genet 2004; 41: e125. doi:10.1136/jmg.2004.023663 [Extract] [Full text] [Web-only Appendix] [PDF] [Request Permissions]

Online mutation reports

	Genetics of the FANCA gene in familial pancreatic cancer C D Rogers, F J Couch, K Brune, S T Martin, J Philips, K M Murphy, G Petersen, C J Yeo, R H Hruban, and M Goggins J Med Genet 2004; 41: e126. doi:10.1136/jmg.2004.024851 [Extract] [Full text] [Web-only Appendix] [PDF] [Request Permissions]
	Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension R Koehler, E Grünig, M W Pauciulo, M M Hoeper, H Olschewski, H Wilkens, M Halank, J Winkler, R Ewert, H Bremer, S Kreuscher, B Janssen, and W C Nichols J Med Genet 2004; 41: e127. doi:10.1136/jmg.2004.023101 [Extract] [Full text] [PDF] [Request Permissions]
	NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome G Borck, R Redon, D Sanlaville, M Rio, M Prieur, S Lyonnet, M Vekemans, N P Carter, A Munnich, L Colleaux, and V Cormier-Daire J Med Genet 2004; 41: e128. doi:10.1136/jmg.2004.026666 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation in PITX2 is associated with ring dermoid of the cornea K Xia, L Wu, X Liu, X Xi, D Liang, D Zheng, F Cai, Q Pan, Z Long, H Dai, Z Hu, B Tang, Z Zhang, and J Xia J Med Genet 2004; 41: e129. doi:10.1136/jmg.2004.022434 [Extract] [Full text] [PDF] [Request Permissions]
	A protein truncating BRCA1 allele with a low penetrance of breast cancer B Gorski, J Menkiszak, J Gronwald, J Lubinski, and S A Narod J Med Genet 2004; 41: e130. doi:10.1136/jmg.2004.019430 [Extract] [Full text] [PDF] [Request Permissions]