Review articles

	Hereditary paraganglioma targets diverse paraganglia B E Baysal J Med Genet 2002; 39: 617-622. doi:10.1136/jmg.39.9.617 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes A M Slavotinek and C J Tifft J Med Genet 2002; 39: 623-633. doi:10.1136/jmg.39.9.623 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene S Eyre, P Roby, K Wolstencroft, K Spreckley, R Aspinwall, R Bayoumi, L Al-Gazali, R Ramesar, P Beighton, and G Wallis J Med Genet 2002; 39: 634-638. doi:10.1136/jmg.39.9.634 [Abstract] [Full text] [Erratum] [PDF] [Request Permissions]
	Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general population A G Yip, C Brayne, D Easton, and D C Rubinsztein J Med Genet 2002; 39: 639-643. doi:10.1136/jmg.39.9.639 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of candidate lung cancer susceptibility genes in mouse using oligonucleotide arrays W J Lemon, H Bernert, H Sun, Y Wang, and M You J Med Genet 2002; 39: 644-655. doi:10.1136/jmg.39.9.644 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the subunit of cone transducin (GNAT2) I A Aligianis, T Forshew, S Johnson, M Michaelides, C A Johnson, R C Trembath, D M Hunt, A T Moore, and E R Maher J Med Genet 2002; 39: 656-660. doi:10.1136/jmg.39.9.656 [Abstract] [Full text] [PDF] [Request Permissions]
	Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule A J Richards, J Morgan, P W P Bearcroft, E Pickering, M J Owen, P Holmans, N Williams, C Tysoe, F M Pope, M P Snead, and H Hughes J Med Genet 2002; 39: 661-665. doi:10.1136/jmg.39.9.661 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance C M Hall, N H Elcioglu, K D MacDermot, A C Offiah, and R M Winter J Med Genet 2002; 39: 666-670. doi:10.1136/jmg.39.9.666 [Extract] [Full text] [PDF] [Request Permissions]
	Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis D Zuccarello, D C Salpietro, S Gangemi, V Toscano, M V Merlino, S Briuglia, G Bisignano, M Mangino, R Mingarelli, and B Dallapiccola J Med Genet 2002; 39: 671-675. doi:10.1136/jmg.39.9.671 [Extract] [Full text] [PDF] [Request Permissions]
	Expression of wild type and mutant TSC2, but not TSC1, causes an increase in the G1 fraction of the cell cycle in HEK293 cells L Khare, A Astrinidis, W Senapedis, P D Adams, and E Petri Henske J Med Genet 2002; 39: 676-680. doi:10.1136/jmg.39.9.676 [Extract] [Full text] [PDF] [Request Permissions]
	Mutation in KCNQ1 that has both recessive and dominant characteristics A Murray, F Potet, C Bellocq, I Baró, W Reardon, H E Hughes, and S Jeffery J Med Genet 2002; 39: 681-685. doi:10.1136/jmg.39.9.681 [Extract] [Full text] [PDF] [Request Permissions]
	Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect J G Dauwerse, C E M de Die-Smulders, E Bakker, M H Breuning, and D J M Peters J Med Genet 2002; 39: 686-688. doi:10.1136/jmg.39.9.686 [Extract] [Full text] [PDF] [Request Permissions]
	Coping style, psychological distress, risk perception, and satisfaction in subjects attending genetic counselling for hereditary cancer K Nordin, A Lidén, M Hansson, R Rosenquist, and G Berglund J Med Genet 2002; 39: 689-694. doi:10.1136/jmg.39.9.689 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic counselling for familial breast and ovarian cancer in Ontario A Andermann and S A Narod J Med Genet 2002; 39: 695-696. doi:10.1136/jmg.39.9.695 [Extract] [Full text] [PDF] [Request Permissions]
	The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trial E Lobb, P Butow, B Meiser, A Barratt, J Kirk, M Gattas, E Haan, and K Tucker J Med Genet 2002; 39: 697-703. doi:10.1136/jmg.39.9.697 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Correction J Med Genet 2002; 39: 703. doi:10.1136/jmg.39.9.703 [Extract] [Full text] [Request Permissions]

Electronic letters

	Parental attitude towards genetic testing for familial hypercholesterolaemia in children M A W Umans-Eckenhausen, F J Oort, K C M P Ferenschild, J C Defesche, J J P Kastelein, and J C J M de Haes J Med Genet 2002; 39: e49. doi:10.1136/jmg.39.9.e49 [Extract] [Full text] [PDF] [Request Permissions]
	Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome A C Offiah, S Mansour, S McDowall, J Tolmie, P Sim, and C M Hall J Med Genet 2002; 39: e50. doi:10.1136/jmg.39.9.e50 [Extract] [Full text] [PDF] [Request Permissions]
	Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect K Brockmann, R Böhm, and J Bürger J Med Genet 2002; 39: e51. doi:10.1136/jmg.39.9.e51 [Extract] [Full text] [PDF] [Request Permissions]
	Transmission of an unbalanced (Y;1) translocation in Brittany, France F Morel, I Duguépéroux, K McElreavey, M-J Le Bris, A Herry, P Parent, M-T Le Martelot, M Fellous, and M De Braekeleer J Med Genet 2002; 39: e52. doi:10.1136/jmg.39.9.e52 [Extract] [Full text] [PDF] [Request Permissions]
	Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies Z Hélias-Rodzewicz, E Bocian, P Stankiewicz, E Obersztyn, E Kostyk, K Jakubów-Durska, A Kutkowska-Kazmierczak, and T Mazurczak J Med Genet 2002; 39: e53. doi:10.1136/jmg.39.9.e53 [Extract] [Full text] [PDF] [Request Permissions]
	Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers C M Brewer, S H Holloway, D H Stone, A D Carothers, and D R FitzPatrick J Med Genet 2002; 39: e54. doi:10.1136/jmg.39.9.e54 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease T R Olsen, L Tranebjærg, E A Kvittingen, L Hagenfeldt, C Møller, and Ø Nilssen J Med Genet 2002; 39: e55. doi:10.1136/jmg.39.9.e55 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain J C Sánchez-Gutiérrez, T Benlloch, M A Leal, B Samper, I García-Ripoll, and J E Felíu J Med Genet 2002; 39: e56. doi:10.1136/jmg.39.9.e56 [Extract] [Full text] [PDF] [Request Permissions]
	The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels R A Whittall, S Matheus, T Cranston, G J Miller, and S E Humphries J Med Genet 2002; 39: e57. doi:10.1136/jmg.39.9.e57 [Extract] [Full text] [PDF] [Request Permissions]
	Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX) C Bergmann, K Zerres, S Rudnik-Schöneborn, T Eggermann, J M Schröder, and J Senderek J Med Genet 2002; 39: e58. doi:10.1136/jmg.39.9.e58 [Extract] [Full text] [PDF] [Request Permissions]