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.

Original articles

	Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features C Shaw-Smith, R Redon, L Rickman, M Rio, L Willatt, H Fiegler, H Firth, D Sanlaville, R Winter, L Colleaux, M Bobrow, and N P Carter J Med Genet 2004; 41: 241-248. doi:10.1136/jmg.2003.017731 [Abstract] [Full text] [PDF] [Request Permissions]
	Genomic imbalances in mental retardation M Kriek, S J White, M C Bouma, H G Dauwerse, K B M Hansson, J V Nijhuis, B Bakker, G-J B van Ommen, J T den Dunnen, and M H Breuning J Med Genet 2004; 41: 249-255. doi:10.1136/jmg.2003.014308 [Abstract] [Full text] [PDF] [Request Permissions]
	Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population C L Relton, C S Wilding, M S Pearce, A J Laffling, P A Jonas, S A Lynch, E J Tawn, and J Burn J Med Genet 2004; 41: 256-260. doi:10.1136/jmg.2003.010694 [Abstract] [Full text] [PDF] [Request Permissions]
	Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer’s disease K J H Robson, D J Lehmann, V L C Wimhurst, K J Livesey, M Combrinck, A T Merryweather-Clarke, D R Warden, and A D Smith J Med Genet 2004; 41: 261-265. doi:10.1136/jmg.2003.015552 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14 C Steiner, N Ehtesham, K D Taylor, E Sebald, R Cantor, L M King, X Guo, T Hang, M S Hu, J-R Cui, B Friedman, D Norato, J Allanson, C Honeywell, G Mettler, F Field, R Lachman, D H Cohn, and D Krakow J Med Genet 2004; 41: 266-269. doi:10.1136/jmg.2003.012252 [Abstract] [Full text] [PDF] [Request Permissions]
	Absence of BRAF mutations in UV-protected mucosal melanomas R H Edwards, M R Ward, H Wu, C A Medina, M S Brose, P Volpe, S Nussen-Lee, H M Haupt, A M Martin, M Herlyn, S R Lessin, and B L Weber J Med Genet 2004; 41: 270-272. doi:10.1136/jmg.2003.016667 [Abstract] [Full text] [PDF] [Request Permissions]
	Homozygosity mapping of a third Joubert syndrome locus to 6q23 C Lagier-Tourenne, E Boltshauser, N Breivik, M Gribaa, C Bétard, C Barbot, and M Koenig J Med Genet 2004; 41: 273-277. doi:10.1136/jmg.2003.014787 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations F Marroni, P Aretini, E D’Andrea, M A Caligo, L Cortesi, A Viel, E Ricevuto, M Montagna, G Cipollini, S Ferrari, M Santarosa, R Bisegna, J E Bailey-Wilson, G Bevilacqua, G Parmigiani, and S Presciuttini J Med Genet 2004; 41: 278-285. doi:10.1136/jmg.2003.013623 [Extract] [Full text] [PDF] [Request Permissions]
	No association between a previously reported OLR1 3' UTR polymorphism and Alzheimer’s disease in a large family sample L Bertram, M Parkinson, K Mullin, R Menon, D Blacker, and R E Tanzi J Med Genet 2004; 41: 286-288. doi:10.1136/jmg.2003.016980 [Extract] [Full text] [PDF] [Request Permissions]
	Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism H Masuzaki, K Miura, K-i Yoshiura, S Yoshimura, N Niikawa, and T Ishimaru J Med Genet 2004; 41: 289-292. doi:10.1136/jmg.2003.015784 [Extract] [Full text] [PDF] [Request Permissions]
	Mitochondrial DNA haplogroups influence the Friedreich’s ataxia phenotype M Giacchetti, A Monticelli, I De Biase, L Pianese, M Turano, A Filla, G De Michele, and S Cocozza J Med Genet 2004; 41: 293-295. doi:10.1136/jmg.2003.015289 [Extract] [Full text] [PDF] [Request Permissions]
	Primary open angle glaucoma is associated with a specific p53 gene haplotype T Ressiniotis, P G Griffiths, M Birch, S Keers, and P F Chinnery J Med Genet 2004; 41: 296-298. doi:10.1136/jmg.2003.016089 [Extract] [Full text] [PDF] [Request Permissions]
	Isolated congenital anosmia locus maps to 18p11.23-q12.2 M Ghadami, S Morovvati, K Majidzadeh-A, E Damavandi, G Nishimura, A Kinoshita, P Pasalar, K Komatsu, M T Najafi, N Niikawa, and K Yoshiura J Med Genet 2004; 41: 299-303. doi:10.1136/jmg.2003.015313 [Extract] [Full text] [PDF] [Request Permissions]
	Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes A B Csoka, H Cao, P J Sammak, D Constantinescu, G P Schatten, and R A Hegele J Med Genet 2004; 41: 304-308. doi:10.1136/jmg.2003.015651 [Extract] [Full text] [PDF] [Request Permissions]
	Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6) S A Mohiddin, Z M Ahmed, A J Griffith, D Tripodi, T B Friedman, L Fananapazir, and R J Morell J Med Genet 2004; 41: 309-314. doi:10.1136/jmg.2003.011973 [Extract] [Full text] [PDF] [Request Permissions]
	A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 A L Nishimura, M Mitne-Neto, H C A Silva, J R M Oliveira, M Vainzof, and M Zatz J Med Genet 2004; 41: 315-320. doi:10.1136/jmg.2003.013029 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	DJ-1 mutations in Parkinson’s disease D G Healy, P M Abou-Sleiman, E M Valente, W P Gilks, K Bhatia, N Quinn, A J Lees, and N W Wood J Med Genet 2004; 41: 248. [Extract] [Full text] [PDF] [Request Permissions]
	Transforming growth factor-ß1 genotype and susceptibility to chronic obstructive pulmonary disease L Wu, J Chau, R P Young, V Pokorny, G D Mills, R Hopkins, L McLean, and P N Black J Med Genet 2004; 41: 285. [Extract] [Full text] [PDF] [Request Permissions]
	Modifier genes and familial adenomatous polyposis coli J Med Genet 2004; 41: 288. [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2004; 41: 320. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	DBH gene variants that cause low plasma dopamine ß hydroxylase with or without a severe orthostatic syndrome J Deinum, G C H Steenbergen-Spanjers, M Jansen, F Boomsma, J W M Lenders, F J van Ittersum, N Hück, L P van den Heuvel, and R A Wevers J Med Genet 2004; 41: e38. doi:10.1136/jmg.2003.009282 [Extract] [Full text] [PDF] [Request Permissions]
	Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes R Bergholdt, P Ghandil, J Johannesen, O P Kristiansen, I Kockum, H Luthman, K S Rønningen, J Nerup, C Julier, and F Pociot J Med Genet 2004; 41: e39. doi:10.1136/jmg.2003.010454 [Extract] [Full text] [PDF] [Request Permissions]
	Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients A Rauch, K Devriendt, A Koch, R Rauch, M Gewillig, C Kraus, M Weyand, H Singer, A Reis, and M Hofbeck J Med Genet 2004; 41: e40. doi:10.1136/jmg.2003.010975 [Extract] [Full text] [PDF] [Request Permissions]
	Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees P Y W Man, N Howell, D A Mackey, S Nørby, T Rosenberg, D M Turnbull, and P F Chinnery J Med Genet 2004; 41: e41. doi:10.1136/jmg.2003.011247 [Extract] [Full text] [PDF] [Request Permissions]
	A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders M Hesse, T Berg, B Wiedenmann, U Spengler, R P Woitas, and T M Magin J Med Genet 2004; 41: e42. doi:10.1136/jmg.2003.012393 [Extract] [Full text] [PDF] [Request Permissions]
	Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome F Tassone, R J Hagerman, D Garcia-Arocena, E W Khandjian, C M Greco, and P J Hagerman J Med Genet 2004; 41: e43. doi:10.1136/jmg.2003.012518 [Extract] [Full text] [PDF] [Request Permissions]
	Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes J Balmaña, E M Stoffel, K M Emmons, J E Garber, and S Syngal J Med Genet 2004; 41: e44. doi:10.1136/jmg.2003.012526 [Extract] [Full text] [PDF] [Request Permissions]
	Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay Y Zhou, H-Y Law, C D Boehm, C-S Yoon, G R Cutting, I S L Ng, and S S Chong J Med Genet 2004; 41: e45. doi:10.1136/jmg.2003.012716 [Extract] [Full text] [PDF] [Request Permissions]
	FRG1P is localised in the nucleolus, Cajal bodies, and speckles S van Koningsbruggen, R W Dirks, A M Mommaas, J J Onderwater, G Deidda, G W Padberg, R R Frants, and S M van der Maarel J Med Genet 2004; 41: e46. doi:10.1136/jmg 2003.012781 [Extract] [Full text] [PDF] [Request Permissions]
	Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal R Pop, C Conz, K S Lindenberg, S Blesson, B Schmalenberger, S Briault, D Pfeifer, and G Scherer J Med Genet 2004; 41: e47. doi:10.1136/jmg.2003.013185 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, M Bobrow, and J Whittaker J Med Genet 2004; 41: e48. doi:10.1136/jmg.2003.011890 [Extract] [Full text] [PDF] [Request Permissions]
	Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1 H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, and V M Hayes J Med Genet 2004; 41: e49. doi:10.1136/jmg.2003.013318 [Extract] [Full text] [PDF] [Request Permissions]
	FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients M C Walter, J A Petersen, R Stucka, D Fischer, R Schröder, M Vorgerd, A Schroers, H Schreiber, C O Hanemann, U Knirsch, A Rosenbohm, A Huebner, N Barisic, R Horvath, S Komoly, P Reilich, W Müller-Felber, D Pongratz, J S Müller, E A Auerswald, and H Lochmüller J Med Genet 2004; 41: e50. doi:10.1136/jmg.2003.013953 [Extract] [Full text] [PDF] [Request Permissions]
	Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy H Ohmori, Y Ando, Y Makita, Y Onouchi, T Nakajima, M J M Saraiva, H Terazaki, O Suhr, G Sobue, M Nakamura, M Yamaizumi, M Munar-Ques, I Inoue, M Uchino, and A Hata J Med Genet 2004; 41: e51. doi:10.1136/jmg.2003.014803 [Extract] [Full text] [PDF] [Request Permissions]
	Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III A Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, and M Zeigler J Med Genet 2004; 41: e52. doi:10.1136/jmg.2003.015222 [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.