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.

Special Data Supplement for this Issue

	[November JMG PREprint]

Reviews

	Melatonin supplementation for severe and intractable sleep disturbance in young people with genetically determined developmental disabilities: short review and commentary J Turk J Med Genet 2003; 40: 793-796. doi:10.1136/jmg.40.11.793 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndrome N Diaz-Meyer, C D Day, K Khatod, E R Maher, W Cooper, W Reik, C Junien, G Graham, E Algar, V M Der Kaloustian, and M J Higgins J Med Genet 2003; 40: 797-801. doi:10.1136/jmg.40.11.797 [Abstract] [Full text] [PDF] [Request Permissions]
	Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation C Warren, L A James, R T Ramsden, A Wallace, M E Baser, J M Varley, and D G Evans J Med Genet 2003; 40: 802-806. doi:10.1136/jmg.40.11.802 [Abstract] [Full text] [PDF] [Request Permissions]
	Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme E Amir, D G Evans, A Shenton, F Lalloo, A Moran, C Boggis, M Wilson, and A Howell J Med Genet 2003; 40: 807-814. doi:10.1136/jmg.40.11.807 [Abstract] [Full text] [PDF] [Request Permissions]
	A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study S Paracchini, C L Pearce, L N Kolonel, D Altshuler, B E Henderson, and C Tyler-Smith J Med Genet 2003; 40: 815-819. doi:10.1136/jmg.40.11.815 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Analysis of the Birt–Hogg–Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer N Fernandes da Silva, D Gentle, L B Hesson, D G Morton, F Latif, and E R Maher J Med Genet 2003; 40: 820-824. doi:10.1136/jmg.40.11.820 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Confirmation linkage study in support of the X chromosome harbouring a QTL underlying human height variation Y-Z Liu, F-H Xu, H Shen, H Deng, Y-J Liu, L-J Zhao, V Dvornyk, T Conway, J-L Li, Q-Y Huang, K M Davies, R R Recker, and H-W Deng J Med Genet 2003; 40: 825-831. doi:10.1136/jmg.40.11.825 [Extract] [Full text] [PDF] [Request Permissions]
	DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 M A Moreno-Pelayo, S Modamio-Høybjør, A Mencía, I del Castillo, S Chardenoux, M Fernández-Burriel, M Lathrop, C Petit, and F Moreno J Med Genet 2003; 40: 832-836. doi:10.1136/jmg.40.11.832 [Extract] [Full text] [PDF] [Request Permissions]
	Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations V Annese, A Latiano, O Palmieri, H-H Li, P Forabosco, A Ferraris, A Andriulli, M Vecchi, S Ardizzone, M Cottone, B Dallapiccola, E Rappaport, P Fortina, and M Devoto J Med Genet 2003; 40: 837-841. doi:10.1136/jmg.40.11.837 [Extract] [Full text] [PDF] [Request Permissions]
	The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma R Melki, A Belmouden, O Akhayat, A Brézin, and H-J Garchon J Med Genet 2003; 40: 842-844. doi:10.1136/jmg.40.11.842 [Extract] [Full text] [PDF] [Request Permissions]
	A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype D Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, W Van den Akker, S Kant, W B Dobyns, B Cormand, S Currier, B Hamel, B Talim, H Topaloglu, and H G Brunner J Med Genet 2003; 40: 845-848. doi:10.1136/jmg.40.11.845 [Extract] [Full text] [PDF] [Request Permissions]
	Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 F Brancati, E M Valente, G Tadini, V Caputo, A Di Benedetto, C Gelmetti, and B Dallapiccola J Med Genet 2003; 40: 849-853. doi:10.1136/jmg.40.11.849 [Extract] [Full text] [PDF] [Request Permissions]
	Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C J J Shen, C A Brown, J R Lupski, and L Potocki J Med Genet 2003; 40: 854-857. doi:10.1136/jmg.40.11.854 [Extract] [Full text] [PDF] [Request Permissions]
	Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son G Puoti, F Carrara, S Sampaolo, M De Caro, C M Vincitorio, F Invernizzi, and M Zeviani J Med Genet 2003; 40: 858-863. doi:10.1136/jmg.40.11.858 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects S Engelborghs, B Dermaut, J Goeman, J Saerens, P Mariën, BA Pickut, M Van den Broeck, S Serneels, M Cruts, C Van Broeckhoven, and P P De Deyn J Med Genet 2003; 40: 814. doi:10.1136/jmg.40.11.814 [Extract] [Full text] [PDF] [Request Permissions]
	IBD5 risk haplotype and CARD15 variants add up to a bigger chance of Crohn’s disease J Med Genet 2003; 40: 831. doi:10.1136/jmg.40.11.831 [Extract] [Full text] [PDF] [Request Permissions]
	Susceptibility to Crohn’s disease may lurk in enzyme mutation J Med Genet 2003; 40: 836. doi:10.1136/jmg.40.11.836 [Extract] [Full text] [PDF] [Request Permissions]
	NOD2/CARD15 mutations do not affect early course of Crohn’s disease J Med Genet 2003; 40: 844. doi:10.1136/jmg.40.11.844 [Extract] [Full text] [PDF] [Request Permissions]
	Mutations of the ß myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis A Woo, H Rakowski, J C Liew, M-S Zhao, C-C Liew, T G Parker, M Zeller, E D Wigle, and M J Sole J Med Genet 2003; 40: 853. doi:10.1136/jmg.40.11.853 [Extract] [Full text] [PDF] [Request Permissions]
	Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX J Med Genet 2003; 40: 863. doi:10.1136/jmg.40.11.863 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation A Iannaccone, D K Breuer, X F Wang, S F Kuo, E M Normando, E Filippova, A Baldi, S Hiriyanna, C B MacDonald, F Baldi, D Cosgrove, C C Morton, A Swaroop, and M M Jablonski J Med Genet 2003; 40: e118. doi:10.1136/jmg.40.11.e118 [Extract] [Full text] [PDF] [Request Permissions]
	Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism F J Serajee, R Nabi, H Zhong, and A H M Mahbubul Huq J Med Genet 2003; 40: e119. doi:10.1136/jmg.40.11.e119 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families V Planté-Bordeneuve, J Carayol, A Ferreira, D Adams, F Clerget-Darpoux, M Misrahi, G Said, and C Bonaïti-Pellié J Med Genet 2003; 40: e120. doi:10.1136/jmg.40.11.e120 [Extract] [Full text] [PDF] [Request Permissions]
	Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects R Zannolli, V Micheli, M A Mazzei, P Sacco, P Piomboni, E Bruni, C Miracco, M M de Santi, P Terrosi Vagnoli, L Volterrani, L Pellegrini, W Livi, B Lucani, S Gonnelli, A B Burlina, G Jacomelli, F Macucci, L Pucci, M Fimiani, J A Swift, M Zappella, and G Morgese J Med Genet 2003; 40: e121. doi:10.1136/jmg.40.11.e121 [Extract] [Full text] [PDF] [Request Permissions]
	Chinese patients with sporadic Hirschsprung’s disease are predominantly represented by a single RET haplotype M-M Garcia-Barceló, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, and P K-H Tam J Med Genet 2003; 40: e122. doi:10.1136/jmg.40.11.e122 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Diagnosis of gene dosage alterations at the PMP22 gene using MAPH S M Akrami, J S Rowland, G R Taylor, and J A L Armour J Med Genet 2003; 40: e123. doi:10.1136/jmg.40.11.e123 [Extract] [Full text] [PDF] [Request Permissions]
	A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract C E Willoughby, Sara Arab, R Gandhi, S Zeinali, Seddigheh Arab, D Luk, G Billingsley, F L Munier, and E Héon J Med Genet 2003; 40: e124. doi:10.1136/jmg.40.11.e124 [Extract] [Full text] [PDF] [Request Permissions]
	Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, and G M Enns J Med Genet 2003; 40: e125. doi:10.1136/jmg.40.11.e125 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of eight novel NSD1 mutations in Sotos syndrome J Kamimura, Y Endo, N Kurotaki, A Kinoshita, N Miyake, O Shimokawa, N Harada, R Visser, H Ohashi, K Miyakawa, J Gerritsen, A M Innes, L Lagace, M Frydman, N Okamoto, R Puttinger, S Raskin, B Resic, V Culic, K Yoshiura, T Ohta, T Kishino, M Ishikawa, N Niikawa, and N Matsumoto J Med Genet 2003; 40: e126. doi:10.1136/jmg.40.11.e126 [Extract] [Full text] [PDF] [Request Permissions]
	High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case J Kohlhase, M Liebers, J Backe, A Baumann-Müller, M Bembea, A Destrée, M Gattas, S Grüßner, T Müller, G Mortier, C Skrypnyk, S Yano, J Wirbelauer, and R C Michaelis J Med Genet 2003; 40: e127. doi:10.1136/jmg.40.11.e127 [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.