Review articles

	Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias E Reid J Med Genet 2003; 40: 81-86. doi:10.1136/jmg.40.2.81 [Abstract] [Full text] [PDF] [Request Permissions]
	Angelman syndrome: a review of the clinical and genetic aspects J Clayton-Smith and L Laan J Med Genet 2003; 40: 87-95. doi:10.1136/jmg.40.2.87 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Effect of TNF and LTA polymorphisms on biological markers of response to oxidative stimuli in coal miners: a model of gene-environment interaction R Nadif, A Jedlicka, M Mintz, J-P Bertrand, S Kleeberger, and F Kauffmann J Med Genet 2003; 40: 96-103. doi:10.1136/jmg.40.2.96 [Abstract] [Full text] [PDF] [Request Permissions]
	Association of the CD14 gene –159C polymorphism with progression of IgA nephropathy H-J Yoon, J H Shin, S H Yang, D-W Chae, H Kim, D-S Lee, H L Kim, S Kim, J S Lee, and Y S Kim J Med Genet 2003; 40: 104-108. doi:10.1136/jmg.40.2.104 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas L Kluwe, V Mautner, B Heinrich, R Dezube, L B Jacoby, R E Friedrich, and M MacCollin J Med Genet 2003; 40: 109-114. doi:10.1136/jmg.40.2.109 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis K J Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, N Yordam, S Ozen, H Mocan, G N Shah, W S Sly, and F E Karet J Med Genet 2003; 40: 115-121. doi:10.1136/jmg.40.2.115 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Independent NF1 mutations in two large families with spinal neurofibromatosis L Messiaen, V Riccardi, J Peltonen, O Maertens, T Callens, S L Karvonen, E-L Leisti, J Koivunen, I Vandenbroucke, K Stephens, and M Pöyhönen J Med Genet 2003; 40: 122-126. doi:10.1136/jmg.40.2.122 [Extract] [Full text] [PDF] [Request Permissions]
	A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome J M Wheway, S C Yau, V Nihalani, D Ellis, M Irving, M Splitt, and R G Roberts J Med Genet 2003; 40: 127-131. doi:10.1136/jmg.40.2.127 [Extract] [Full text] [Web-only Supplementary Material] [PDF] [Request Permissions]
	Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family N Giordano, L Gennari, M Bruttini, F Mari, I Meloni, C Baldi, S Capoccia, S Geraci, D Merlotti, A Amendola, G Martini, R Nuti, C Gennari, and A Renieri J Med Genet 2003; 40: 132-135. doi:10.1136/jmg.40.2.132 [Extract] [Full text] [PDF] [Request Permissions]
	Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome A Karmiloff-Smith, J Grant, S Ewing, M J Carette, K Metcalfe, D Donnai, A P Read, and M Tassabehji J Med Genet 2003; 40: 136-140. doi:10.1136/jmg.40.2.136 [Extract] [Full text] [PDF] [Request Permissions]
	The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome I M Van Langen, E Birnie, M Alders, R J Jongbloed, H Le Marec, and A A M Wilde J Med Genet 2003; 40: 141-145. doi:10.1136/jmg.40.2.141 [Extract] [Full text] [PDF] [Request Permissions]
	Relationship between microsatellite polymorphism in the haem oxygenase-1 gene promoter and longevity of the normal Japanese population M Yamaya, K Nakayama, S Ebihara, H Hirai, S Higuchi, and H Sasaki J Med Genet 2003; 40: 146-148. doi:10.1136/jmg.40.2.146 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Molecular Cytogenetics Protocols and Applications: Methods in Molecular Biology Volume 204. Editor Yao-Shan Fan. (Pp 424; $135.00.) Totowa, NJ: Humana Press. 2002. ISBN 1-58829-006-9. Lionel Willatt J Med Genet 2003; 40: 149. doi:10.1136/jmg.40.2.149 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Transient transfection permits analysis of mismatch repair genes J Med Genet 2003; 40: 86. doi:10.1136/jmg.40.2.86 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	Corrections J Med Genet 2003; 40: 150. doi:10.1136/jmg.40.2.150 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients G Fitze, E Paditz, M Schläfke, E Kuhlisch, D Roesner, and H K Schackert J Med Genet 2003; 40: e10. doi:10.1136/jmg.40.2.e10 [Extract] [Full text] [PDF] [Request Permissions]
	SHOX mutations detected by FISH and direct sequencing in patients with short stature L Stuppia, G Calabrese, V Gatta, S Pintor, E Morizio, D Fantasia, P Guanciali Franchi, M M Rinaldi, G Scarano, D Concolino, A Giannotti, F Petreschi, M T Anzellotti, M Pomilio, F Chiarelli, S Tumini, and G Palka J Med Genet 2003; 40: e11. doi:10.1136/jmg.40.2.e11 [Extract] [Full text] [PDF] [Request Permissions]
	Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations E S Moreira, M Vainzof, O T Suzuki, R C M Pavanello, M Zatz, and M R Passos-Bueno J Med Genet 2003; 40: e12. doi:10.1136/jmg.40.2.e12 [Extract] [Full text] [PDF] [Request Permissions]
	Developmental delay and the methyl binding genes H Turner, F MacDonald, S Warburton, F Latif, and T Webb J Med Genet 2003; 40: e13. doi:10.1136/jmg.40.2.e13 [Extract] [Full text] [PDF] [Request Permissions]
	Mutational analysis of N-ras, p53, CDKN2A (p16INK4a), p14ARF, CDK4, and MC1R genes in human dysplastic melanocytic naevi T Papp, H Pemsel, I Rollwitz, H Schipper, D G Weiss, D Schiffmann, and R Zimmermann J Med Genet 2003; 40: e14. doi:10.1136/jmg.40.2.e14 [Extract] [Full text] [PDF] [Request Permissions]
	A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype D Efron, M B Delatycki, M G de Silva, A Langbein, W Slaghuis, A Larson, H-H M Dahl, and S M Forrest J Med Genet 2003; 40: e15. doi:10.1136/jmg.40.2.e15 [Extract] [Full text] [PDF] [Request Permissions]
	Appraisal of genetic and epigenetic congruity of a monozygotic twin pair discordant for schizophrenia P McDonald, M Lewis, B Murphy, R O’Reilly, and S M Singh J Med Genet 2003; 40: e16. doi:10.1136/jmg.40.2.e16 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease Y M Smulders, B H J Eussen, S Verhoef, and C H Wouters J Med Genet 2003; 40: e17. doi:10.1136/jmg.40.2.e17 [Extract] [Full text] [PDF] [Request Permissions]