Review articles

	Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome R S Wildin, S Smyk-Pearson, and A H Filipovich J Med Genet 2002; 39: 537-545. doi:10.1136/jmg.39.8.537 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience C D M van Karnebeek, C Koevoets, S Sluijter, E K Bijlsma, D F M C Smeets, E J Redeker, R C M Hennekam, and J M N Hoovers J Med Genet 2002; 39: 546-553. doi:10.1136/jmg.39.8.546 [Abstract] [Full text] [PDF] [Request Permissions]
	Cardiovascular manifestations in 75 patients with Williams syndrome M Eronen, M Peippo, A Hiippala, M Raatikka, M Arvio, R Johansson, and M Kähkönen J Med Genet 2002; 39: 554-558. doi:10.1136/jmg.39.8.554 [Abstract] [Full text] [PDF] [Request Permissions]
	Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts L L Barrow, H van Bokhoven, S Daack-Hirsch, T Andersen, S E C van Beersum, R Gorlin, and J C Murray J Med Genet 2002; 39: 559-566. doi:10.1136/jmg.39.8.559 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter S H Blanton, C Y Liang, M W Cai, A Pandya, L L Du, B Landa, S Mummalanni, K S Li, Z Y Chen, X N Qin, Y F Liu, T Balkany, W E Nance, and X Z Liu J Med Genet 2002; 39: 567-570. doi:10.1136/jmg.39.8.567 [Abstract] [Full text] [PDF] [Request Permissions]
	PTPN11 mutations in LEOPARD syndrome E Legius, C Schrander-Stumpel, E Schollen, C Pulles-Heintzberger, M Gewillig, and J-P Fryns J Med Genet 2002; 39: 571-574. doi:10.1136/jmg.39.8.571 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome D Monk, L Bentley, C Beechey, M Hitchins, J Peters, M A Preece, P Stanier, and G E Moore J Med Genet 2002; 39: 575-581. doi:10.1136/jmg.39.8.575 [Extract] [Full text] [PDF] [Request Permissions]
	Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome M M van Haelst, H J F M M Eussen, F Visscher, J L M de Ruijter, S L S Drop, D Lindhout, C H Wouters, and L C P Govaerts J Med Genet 2002; 39: 582-585. doi:10.1136/jmg.39.8.582 [Extract] [Full text] [PDF] [Request Permissions]
	MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution F Laccone, B Zoll, P Huppke, F Hanefeld, W Pepinski, and R Trappe J Med Genet 2002; 39: 586-588. doi:10.1136/jmg.39.8.586 [Extract] [Full text] [PDF] [Request Permissions]
	Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice D J Halliday, S Hutchinson, L Lonie, J A Hurst, H Firth, P A Handford, and P Wordsworth J Med Genet 2002; 39: 589-593. doi:10.1136/jmg.39.8.589 [Extract] [Full text] [PDF] [Request Permissions]
	Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype L Faivre, V Cormier-Daire, J M Lapierre, L Colleaux, S Jacquemont, D Geneviéve, P Saunier, A Munnich, C Turleau, S Romana, M Prieur, M C De Blois, and M Vekemans J Med Genet 2002; 39: 594-596. doi:10.1136/jmg.39.8.594 [Extract] [Full text] [Author Correction] [PDF] [Request Permissions]
	The phenotype of survivors of campomelic dysplasia S Mansour, A C Offiah, S McDowall, P Sim, J Tolmie, and C Hall J Med Genet 2002; 39: 597-602. doi:10.1136/jmg.39.8.597 [Extract] [Full text] [PDF] [Request Permissions]
	Dysosteosclerosis: a report of three new cases and evolution of the radiological findings N H Elçioglu, A Vellodi, and C M Hall J Med Genet 2002; 39: 603-607. doi:10.1136/jmg.39.8.603 [Extract] [Full text] [PDF] [Request Permissions]
	A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer P O Chappuis, J Goffin, N Wong, C Perret, P Ghadirian, P N Tonin, and W D Foulkes J Med Genet 2002; 39: 608-610. doi:10.1136/jmg.39.8.608 [Extract] [Full text] [Web-only Tables] [PDF] [Request Permissions]
	Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families N D Kauff, P Perez-Segura, M E Robson, L Scheuer, B Siegel, A Schluger, B Rapaport, T S Frank, K Nafa, N A Ellis, G Parmigiani, and K Offit J Med Genet 2002; 39: 611-614. doi:10.1136/jmg.39.8.611 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Counseling About Cancer: Strategies for Genetic Counseling: 2nd edition. Katherine A Schneider. (Pp 333; $39.95.) New York: Wiley-Liss. 2002. ISDN 0-471-37036-3. Kevin Sweet and D G R Evans J Med Genet 2002; 39: 615. doi:10.1136/jmg.39.8.615 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Coeliac disease in twins J Med Genet 2002; 39: 566. doi:10.1136/jmg.39.8.566 [Extract] [Full text] [PDF] [Request Permissions]
	APC gene mutation does not predict duodenal cancer J Med Genet 2002; 39: 585. doi:10.1136/jmg.39.8.585 [Extract] [Full text] [PDF] [Request Permissions]
	UGT1A7 and colorectal cancer susceptibility J Med Genet 2002; 39: 602. doi:10.1136/jmg.39.8.602 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement N Concannon, A-M Hegarty, R L Stallings, and W Reardon J Med Genet 2002; 39: e41. doi:10.1136/jmg.39.8.e41 [Extract] [Full text] [PDF] [Request Permissions]
	Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child E Sala, N Villa, P Riva, T Varisco, L Larizza, and L Dalprà J Med Genet 2002; 39: e42. doi:10.1136/jmg.39.8.e42 [Extract] [Full text] [PDF] [Request Permissions]
	FOXL2 mutation screening in a large panel of POF patients and XX males E De Baere, B Lemercier, S Christin-Maitre, D Durval, L Messiaen, M Fellous, and R Veitia J Med Genet 2002; 39: e43. doi:10.1136/jmg.39.8.e43 [Extract] [Full text] [PDF] [Request Permissions]
	A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes T Caldes, M de la Hoya, A Tosar, S Sulleiro, J Godino, D Ibañez, M Martin, P Perez-Segura, and E Diaz-Rubio J Med Genet 2002; 39: e44. doi:10.1136/jmg.39.8.e44 [Extract] [Full text] [PDF] [Request Permissions]
	Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1 L De Smet, R Sciot, and E Legius J Med Genet 2002; 39: e45. doi:10.1136/jmg.39.8.e45 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Spastin gene mutation in Japanese with hereditary spastic paraplegia I Yabe, H Sasaki, K Tashiro, T Matsuura, T Takegami, and T Satoh J Med Genet 2002; 39: e46. doi:10.1136/jmg.39.8.e46 [Extract] [Full text] [PDF] [Request Permissions]
	Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease N J Marchbank, J E Craig, J P Leek, M Toohey, A J Churchill, A F Markham, D A Mackey, C Toomes, and C F Inglehearn J Med Genet 2002; 39: e47. doi:10.1136/jmg.39.8.e47 [Extract] [Full text] [PDF] [Request Permissions]
	A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7 R Fukuzawa, J Sakamoto, R W Heathcott, and J-I Hata J Med Genet 2002; 39: e48. doi:10.1136/jmg.39.8.e48 [Extract] [Full text] [PDF] [Request Permissions]