Review articles

	Robinow syndrome M A Patton and A R Afzal J Med Genet 2002; 39: 305-310. doi:10.1136/jmg.39.5.305 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Malignant peripheral nerve sheath tumours in neurofibromatosis 1 D G R Evans, M E Baser, J McGaughran, S Sharif, E Howard, and A Moran J Med Genet 2002; 39: 311-314. doi:10.1136/jmg.39.5.311 [Abstract] [Full text] [Authors' Correction] [PDF] [Request Permissions]
	Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas A Mohyuddin, W J Neary, A Wallace, C L Wu, S Purcell, H Reid, R T Ramsden, A Read, G Black, and D G R Evans J Med Genet 2002; 39: 315-322. doi:10.1136/jmg.39.5.315 [Abstract] [Full text] [PDF] [Request Permissions]
	An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1 P Hutter, J Wijnen, C Rey-Berthod, I Thiffault, P Verkuijlen, D Farber, N Hamel, B Bapat, S N Thibodeau, J Burn, J Wu, E MacNamara, K Heinimann, G Chong, and W D Foulkes J Med Genet 2002; 39: 323-327. doi:10.1136/jmg.39.5.323 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Genome screening of coeliac disease S Popat, S Bevan, C P Braegger, A Busch, D O'Donoghue, K Falth-Magnusson, A Godkin, L Hogberg, G Holmes, K B Hosie, P D Howdle, H Jenkins, D Jewell, S Johnston, N P Kennedy, P Kumar, R F A Logan, A H G Love, M N Marsh, C J Mulder, K Sjoberg, L Stenhammar, J Walker-Smith, and R S Houlston J Med Genet 2002; 39: 328-331. doi:10.1136/jmg.39.5.328 [Extract] [Full text] [PDF] [Request Permissions]
	Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients V Annese, A Piepoli, A Andriulli, A Latiano, G Napolitano, H-H Li, P Forabosco, and M Devoto J Med Genet 2002; 39: 332-334. doi:10.1136/jmg.39.5.332 [Extract] [Full text] [PDF] [Request Permissions]
	Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated J Carayol, M Khlat, J Maccario, and C Bonaïti-Pellié J Med Genet 2002; 39: 335-339. doi:10.1136/jmg.39.5.335 [Extract] [Full text] [PDF] [Request Permissions]
	Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers U Potocnik, M Ravnik-Glavac, R Golouh, and D Glavac J Med Genet 2002; 39: 340-346. doi:10.1136/jmg.39.5.340 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis G R Chandak, M M Idris, D N Reddy, S Bhaskar, P V J Sriram, and L Singh J Med Genet 2002; 39: 347-351. doi:10.1136/jmg.39.5.347 [Extract] [Full text] [PDF] [Request Permissions]
	Novel mutations in the -crystallin genes cause autosomal dominant congenital cataracts S T Santhiya, M Shyam Manohar, D Rawlley, P Vijayalakshmi, P Namperumalsamy, P M Gopinath, J Löster, and J Graw J Med Genet 2002; 39: 352-358. doi:10.1136/jmg.39.5.352 [Extract] [Full text] [PDF] [Request Permissions]
	Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) I Meloni, F Vitelli, L Pucci, R B Lowry, R Tonlorenzi, E Rossi, M Ventura, G Rizzoni, C E Kashtan, B Pober, and A Renieri J Med Genet 2002; 39: 359-365. doi:10.1136/jmg.39.5.359 [Extract] [Full text] [PDF] [Request Permissions]
	Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects G L Johanning, K D Wenstrom, and T Tamura J Med Genet 2002; 39: 366-367. doi:10.1136/jmg.39.5.366 [Extract] [Full text] [PDF] [Request Permissions]
	Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate N J Prescott, R M Winter, and S Malcolm J Med Genet 2002; 39: 368-369. doi:10.1136/jmg.39.5.368 [Extract] [Full text] [PDF] [Request Permissions]
	Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes E Marquis, J J Robert, C Bouvattier, C Bellanné-Chantelot, C Junien, and C Diatloff-Zito J Med Genet 2002; 39: 370-374. doi:10.1136/jmg.39.5.370 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Catalogue of Unbalanced Chromosome Aberrations in Man: 2nd edition. Albert Schinzel. (Pp 966; SFr 397.) Berlin: Walter de Gruyter, 2001. ISBN 3-11-011607-3. John C K Barber J Med Genet 2002; 39: 375. doi:10.1136/jmg.39.5.375 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Cystatin C gene and exudative age related macular degeneration are linked J Med Genet 2002; 39: 310. doi:10.1136/jmg.39.5.310 [Extract] [Full text] [PDF] [Request Permissions]
	When HFE gene mutation doesn't make sense J Med Genet 2002; 39: 322. doi:10.1136/jmg.39.5.322 [Extract] [Full text] [PDF] [Request Permissions]
	Covert operations J Med Genet 2002; 39: 331. doi:10.1136/jmg.39.5.331 [Extract] [Full text] [PDF] [Request Permissions]
	TNF2 turns up in non-ischaemic heart failure J Med Genet 2002; 39: 339. doi:10.1136/jmg.39.5.339 [Extract] [Full text] [PDF] [Request Permissions]
	Guilt by association? J Med Genet 2002; 39: 351. doi:10.1136/jmg.39.5.351 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma S H Lefévre, L Chauveinc, D Stoppa-Lyonnet, J Michon, L Lumbroso, P Berthet, D Frappaz, B Dutrillaux, S Chevillard, and B Malfoy J Med Genet 2002; 39: e21. doi:10.1136/jmg.39.5.e21 [Extract] [Full text] [PDF] [Request Permissions]
	Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations P F Chinnery, D T Brown, K Archibald, A Curtis, and D M Turnbull J Med Genet 2002; 39: e22. doi:10.1136/jmg.39.5.e22 [Extract] [Full text] [PDF] [Request Permissions]
	Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints A Kocks, S Endele, R Heller, B Schröder, H-J Schäfer, C Städtler, M Makrigeorgi-Butera, and A Winterpacht J Med Genet 2002; 39: e23. doi:10.1136/jmg.39.5.e23 [Extract] [Full text] [PDF] [Request Permissions]
	Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations C Hernando, A Plaja, M A Rigola, M M Pérez, T Vendrell, J Egocue, and C Fuster J Med Genet 2002; 39: e24. doi:10.1136/jmg.39.5.e24 [Extract] [Full text] [PDF] [Request Permissions]
	Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome K H Chrzanowska, M Bekiesinska-Figatowska, S Józwiak, P Maraschio, C Danesino, R Varon, and L Tiepolo J Med Genet 2002; 39: e25. doi:10.1136/jmg.39.5.e25 [Extract] [Full text] [PDF] [Request Permissions]
	Preconceptional couple screening for cystic fibrosis carrier status: couples prefer full disclosure of test results L Henneman and L P ten Kate J Med Genet 2002; 39: e26. doi:10.1136/jmg.39.5.e26 [Extract] [Full text] [PDF] [Request Permissions]