Original articles

	Screening for microsatellite instability target genes in colorectal cancers S Vilkki, V Launonen, A Karhu, P Sistonen, I Västrik, and L A Aaltonen J Med Genet 2002; 39: 785-789. doi:10.1136/jmg.39.11.785 [Abstract] [Full text] [PDF] [Request Permissions]
	High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH) E J Hollox, T Atia, G Cross, T Parkin, and J A L Armour J Med Genet 2002; 39: 790-795. doi:10.1136/jmg.39.11.790 [Abstract] [Full text] [PDF] [Request Permissions]
	Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss E H Stover, K J Borthwick, C Bavalia, N Eady, D M Fritz, N Rungroj, A B S Giersch, C C Morton, P R Axon, I Akil, E A Al-Sabban, D M Baguley, S Bianca, A Bakkaloglu, Z Bircan, D Chauveau, M-J Clermont, A Guala, S A Hulton, H Kroes, G Li Volti, S Mir, H Mocan, A Nayir, S Ozen, J Rodriguez Soriano, S A Sanjad, V Tasic, C M Taylor, R Topaloglu, A N Smith, and F E Karet J Med Genet 2002; 39: 796-803. doi:10.1136/jmg.39.11.796 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models E Elson, R Perveen, D Donnai, S Wall, and G C M Black J Med Genet 2002; 39: 804-806. doi:10.1136/jmg.39.11.804 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD Y Watanabe, D W Benson, S Yano, T Akagi, M Yoshino, and J C Murray J Med Genet 2002; 39: 807-811. doi:10.1136/jmg.39.11.807 [Extract] [Full text] [PDF] [Request Permissions]
	Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene R Horváth, C Scharfe, M Hoeltzenbein, B H Do, C Schröder, R Warzok, S Vogelgesang, H Lochmüller, J Müller-Höcker, K D Gerbitz, P J Oefner, and M Jaksch J Med Genet 2002; 39: 812-816. doi:10.1136/jmg.39.11.812 [Extract] [Full text] [PDF] [Request Permissions]
	Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families S Gad, M Klinger, V Caux-Moncoutier, S Pages-Berhouet, M Gauthier-Villars, I Coupier, A Bensimon, A Aurias, and D Stoppa-Lyonnet J Med Genet 2002; 39: 817-821. doi:10.1136/jmg.39.11.817 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles W Ju, R Zhong, S Moore, D Moroziewicz, J R Currie, P Parfrey, W T Brown, and N Zhong J Med Genet 2002; 39: 822-825. doi:10.1136/jmg.39.11.822 [Extract] [Full text] [PDF] [Request Permissions]
	Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study N Kazerouni, C Schairer, H B Friedman, J V Lacey, Jr, and M H Greene J Med Genet 2002; 39: 826-832. doi:10.1136/jmg.39.11.826 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation A Wagner, C Tops, J T Wijnen, K Zwinderman, C van der Meer, M Kets, M F Niermeijer, J G M Klijn, A Tibben, H F A Vasen, and H Meijers-Heijboer J Med Genet 2002; 39: 833-837. doi:10.1136/jmg.39.11.833 [Extract] [Full text] [PDF] [Request Permissions]
	Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome C Lagier-Tourenne, D Chaigne, J Gong, J Flori, M Mohr, D Ruh, D Christmann, J Flament, J-L Mandel, M Koenig, and H Dollfus J Med Genet 2002; 39: 838-843. doi:10.1136/jmg.39.11.838 [Extract] [Full text] [PDF] [Request Permissions]
	Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis L I Holla, D Buckova, A Fassmann, T Halabala, A Vasku, and J Vacha J Med Genet 2002; 39: 844-848. doi:10.1136/jmg.39.11.844 [Extract] [Full text] [PDF] [Request Permissions]
	Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib S Vuillaumier-Barrot, C Le Bizec, P de Lonlay, A Barnier, G Mitchell, V Pelletier, C Prevost, J M Saudubray, G Durand, and N Seta J Med Genet 2002; 39: 849-851. doi:10.1136/jmg.39.11.849 [Extract] [Full text] [PDF] [Request Permissions]
	Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 P Debeer, C Bacchelli, P J Scambler, L De Smet, J-P Fryns, and F R Goodman J Med Genet 2002; 39: 852-856. doi:10.1136/jmg.39.11.852 [Extract] [Full text] [PDF] [Request Permissions]
	Behavioural complaints in participants who underwent predictive testing for Huntington’s disease M-N W Witjes-Ané, A H Zwinderman, A Tibben, G-J B van Ommen, and R A C Roos J Med Genet 2002; 39: 857-862. doi:10.1136/jmg.39.11.857 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Your Genetic Destiny: Know Your Genes, Secure your Health, Save Your Life: Aubrey Milunsky. Oxford: Perseus Publishing. 2001. ISDN 0738203777. Joyce Wilcox Graff J Med Genet 2002; 39: 863. doi:10.1136/jmg.39.11.863 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically? M Al-Saffar and W D Foulkes J Med Genet 2002; 39: e68. doi:10.1136/jmg.39.11.e68 [Extract] [Full text] [PDF] [Request Permissions]
	Continuous medical education approaches for clinical genetics: a postal survey of general practitioners N Qureshi, R Hapgood, and S Armstrong J Med Genet 2002; 39: e69. doi:10.1136/jmg.39.11.e69 [Extract] [Full text] [PDF] [Request Permissions]
	No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD) Z Talebizadeh, D C Bittel, J H Miles, N Takahashi, C H Wang, N Kibiryeva, and M G Butler J Med Genet 2002; 39: e70. doi:10.1136/jmg.39.11.e70 [Extract] [Full text] [PDF] [Request Permissions]
	Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis S M Singh, B Murphy, and R O’Reilly J Med Genet 2002; 39: e71. doi:10.1136/jmg.39.11.e71 [Extract] [Full text] [PDF] [Request Permissions]
	Mosaicism for duplication 12q (12q1312q21.2) accompanied by a pericentric inversion in a dysmorphic female infant J R Vermeesch, M Syrrou, I Salden, F Dhondt, G Matthijs, and J-P Fryns J Med Genet 2002; 39: e72. doi:10.1136/jmg.39.11.e72 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients M P Reboul, E Bieth, M Fayon, N Biteau, R Barbier, C Dromer, M Desgeorges, M Claustres, F Bremont, D Lacombe, and A Iron J Med Genet 2002; 39: e73. doi:10.1136/jmg.39.11.e73 [Extract] [Full text] [PDF] [Request Permissions]
	CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia M N Slimane, S Lestavel, V Clavey, F Maatouk, M H Ben Fahrat, J C Fruchart, M Hammami, and P Benlian J Med Genet 2002; 39: e74. doi:10.1136/jmg.39.11.e74 [Extract] [Full text] [PDF] [Request Permissions]