To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

Review

Hirschsprung disease, associated syndromes and genetics: a review J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, and for the Hirschsprung Disease Consortium J Med Genet 2008; 45: 1-14. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 26 October 2007. doi:10.1136/jmg.2007.053959

Original articles

	Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations A Trizzino, U zur Stadt, I Ueda, K Risma, G Janka, E Ishii, K Beutel, J Sumegi, S Cannella, D Pende, A Mian, J-I Henter, G Griffiths, A Santoro, A Filipovich, M Aricò, and for the Histiocyte Society HLH Study group J Med Genet 2008; 45: 15-21. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052670
	Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people Y Yamada, S Ichihara, K Kato, T Yoshida, K Yokoi, H Matsuo, S Watanabe, N Metoki, H Yoshida, K Satoh, Y Aoyagi, A Yasunaga, H Park, M Tanaka, W Lee, and Y Nozawa J Med Genet 2008; 45: 22-28. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]   Published Online First: 31 August 2007. doi:10.1136/jmg.2007.052415

Short reports

	Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, and C Brahe J Med Genet 2008; 45: 29-31. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051177
	Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16 A Iwaki, Y Kawano, S Miura, H Shibata, D Matsuse, W Li, H Furuya, Y Ohyagi, T Taniwaki, J Kira, and Y Fukumaki J Med Genet 2008; 45: 32-35. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 11 October 2007. doi:10.1136/jmg.2007.053942

Letters to JMG

	Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts B L Browning, V Annese, M L Barclay, S A Bingham, S Brand, C Büning, M Castro, S Cucchiara, B Dallapiccola, H Drummond, L R Ferguson, A Ferraris, S A Fisher, R B Gearry, J Glas, L Henckaerts, C Huebner, D Knafelz, L Lakatos, P L Lakatos, A Latiano, X Liu, C Mathew, B Müller-Myhsok, W G Newman, E R Nimmo, C L Noble, O Palmieri, M Parkes, I Petermann, P Rutgeerts, J Satsangi, A N Shelling, K A Siminovitch, H-P Török, M Tremelling, S Vermeire, M R Valvano, and H Witt J Med Genet 2008; 45: 36-42. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 10 August 2007. doi:10.1136/jmg.2007.050773
	Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls S Lesage, E Lohmann, F Tison, F Durif, A Dürr, A Brice, and for the French Parkinson’s Disease Genetics Study Group J Med Genet 2008; 45: 43-46. [Abstract] [Full text] [PDF] [Request Permissions]   Published Online First: 31 August 2007. doi:10.1136/jmg.2007.051854

Mutation reports

	Diversity of the basic defect of homozygous CFTR mutation genotypes in humans F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, and B Tümmler J Med Genet 2008; 45: 47-54. doi:10.1136/jmg.2007.053561 [Abstract] [Full text] [PDF] [Request Permissions]
	Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations H A L Tuppen, F Fattori, R Carrozzo, M Zeviani, S DiMauro, S Seneca, J E Martindale, S E Olpin, E P Treacy, R McFarland, F M Santorelli, and R W Taylor J Med Genet 2008; 45: 55-61. doi:10.1136/jmg.2007.051185 [Abstract] [Full text] [PDF] [Request Permissions]

PostScript

	BRCA2: a cause of Li–Fraumeni-like syndrome D G Evans, C L Wu, and J M Birch J Med Genet 2008; 45: 62-63. doi:10.1136/jmg.2007.054494 [Extract] [Full text] [PDF] [Request Permissions]
	Is CHEK2 a cause of the Li–Fraumeni syndrome? D G Evans, J M Birch, and S A Narod J Med Genet 2008; 45: 63-64. doi:10.1136/jmg.2007.054700 [Extract] [Full text] [PDF] [Request Permissions]
	Correction J Med Genet 2008; 45: 64. doi:10.1136/jmg.2007.050013corr1 [Extract] [Full text] [PDF] [Request Permissions]

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.