Reviews

	The genetic and molecular bases of monogenic disorders affecting proteolytic systems I Richard J Med Genet 2005; 42: 529-539. doi:10.1136/jmg.2004.028118 [Abstract] [Full text] [PDF] [Request Permissions]
	The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 M E Baser, L Kuramoto, R Woods, H Joe, J M Friedman, A J Wallace, R T Ramsden, S Olschwang, E Bijlsma, M Kalamarides, L Papi, R Kato, J Carroll, C Lázaro, F Joncourt, D M Parry, G A Rouleau, and D G R Evans J Med Genet 2005; 42: 540-546. doi:10.1136/jmg.2004.029504 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) P J Ferguson, S Chen, M K Tayeh, L Ochoa, S M Leal, A Pelet, A Munnich, S Lyonnet, H A Majeed, and H El-Shanti J Med Genet 2005; 42: 551-557. doi:10.1136/jmg.2005.030759 [Abstract] [Full text] [Web-only table] [PDF] [Request Permissions]
	Cloned fusion product from a rare t(15;19)(q13.2;p13.1) inhibit S phase in vitro N Haruki, K S Kawaguchi, S Eichenberger, P P Massion, A Gonzalez, A F Gazdar, J D Minna, D P Carbone, and T P Dang J Med Genet 2005; 42: 558-564. doi:10.1136/jmg.2004.029686 [Abstract] [Full text] [PDF] [Request Permissions]
	STRA13 expression and subcellular localisation in normal and tumour tissues: implications for use as a diagnostic and differentiation marker A Ivanova, S-Y Liao, M I Lerman, S Ivanov, and E J Stanbridge J Med Genet 2005; 42: 565-576. doi:10.1136/jmg.2004.029835 [Abstract] [Full text] [PDF] [Request Permissions]

Hypothesis

	Is the Ala12 variant of the PPARG gene an "unthrifty allele"? E Ruiz-Narváez J Med Genet 2005; 42: 547-550. doi:10.1136/jmg.2004.026765 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5 S G Cole, M E Begbie, G M F Wallace, and C L Shovlin J Med Genet 2005; 42: 577-582. doi:10.1136/jmg.2004.028712 [Abstract] [Full text] [PDF] [Request Permissions]
	Melanocortin-1 receptor gene variants affect pain and µ-opioid analgesia in mice and humans J S Mogil, J Ritchie, S B Smith, K Strasburg, L Kaplan, M R Wallace, R R Romberg, H Bijl, E Y Sarton, R B Fillingim, and A Dahan J Med Genet 2005; 42: 583-587. doi:10.1136/jmg.2004.027698 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment F J del Castillo, M Rodríguez-Ballesteros, A Álvarez, T Hutchin, E Leonardi, C A de Oliveira, H Azaiez, Z Brownstein, M R Avenarius, S Marlin, A Pandya, H Shahin, K R Siemering, D Weil, W Wuyts, L A Aguirre, Y Martín, M A Moreno-Pelayo, M Villamar, K B Avraham, H-H M Dahl, M Kanaan, W E Nance, C Petit, R J H Smith, G Van Camp, E L Sartorato, A Murgia, F Moreno, and I del Castillo J Med Genet 2005; 42: 588-594. doi:10.1136/jmg.2004.028324 [Extract] [Full text] [PDF] [Request Permissions]
	A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4 L R Goldin, M L McMaster, M Ter-Minassian, S Saddlemire, B Harmsen, G Lalonde, and M A Tucker J Med Genet 2005; 42: 595-601. doi:10.1136/jmg.2004.027433 [Extract] [Full text] [PDF] [Request Permissions]
	Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies A C Antoniou, P D P Pharoah, S Narod, H A Risch, J E Eyfjord, J L Hopper, H Olsson, O Johannsson, Å Borg, B Pasini, P Radice, S Manoukian, D M Eccles, N Tang, E Olah, H Anton-Culver, E Warner, J Lubinski, J Gronwald, B Gorski, H Tulinius, S Thorlacius, H Eerola, H Nevanlinna, K Syrjäkoski, O-P Kallioniemi, D Thompson, C Evans, J Peto, F Lalloo, D G Evans, and D F Easton J Med Genet 2005; 42: 602-603. doi:10.1136/jmg.2004.024133 [Abstract] [Full text] [PDF] [Request Permissions]
	Association of two tumour necrosis factor gene polymorphisms with the incidence of severe intraventricular haemorrhage in preterm infants A Heep, A C Schueller, E Kattner, M Kroll, J Sander, M Wisbauer, P Bartmann, and F Stueber J Med Genet 2005; 42: 604-608. doi:10.1136/jmg.2004.021378 [Extract] [Full text] [PDF] [Request Permissions]

Corrections

	CORRECTION J Med Genet 2005; 42: 582. doi:10.1136/jmg.2005.19224corr1 [Extract] [Full text] [PDF] [Request Permissions]

Correspondence

	Update on the Manchester Scoring System for BRCA1 and BRCA2 testing D G R Evans, F Lalloo, A Wallace, and N Rahman J Med Genet 2005; 42: e39. doi:10.1136/jmg.2005.031989 [Extract] [Full text] [PDF] [Request Permissions]
	Transmission of mutant alleles to female offspring of BRCA1 carriers in Poland J Gronwald, T Byrski, T Huzarski, S A Narod, and J Lubinski J Med Genet 2005; 42: e40. doi:10.1136/jmg.2005.031492 [Extract] [Full text] [PDF] [Request Permissions]
	Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer) J L Whittaker, C Mattocks, D Baralle, P Tarpey, C ffrench-Constant, and M Bobrow J Med Genet 2005; 42: e41. [Extract] [Full text] [PDF] [Request Permissions]
	BRCA1 mutation and neuronal migration defect: implications for chemoprevention D Eccles, D Bunyan, S Barker, and B Castle J Med Genet 2005; 42: e42. doi:10.1136/jmg.2004.028084 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Mutations in FLNB cause boomerang dysplasia L S Bicknell, T Morgan, L Bonafé, M W Wessels, M G Bialer, P J Willems, D H Cohn, D Krakow, and S P Robertson J Med Genet 2005; 42: e43. doi:10.1136/jmg.2004.029967 [Abstract] [Full text] [PDF] [Request Permissions]
	Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits C Tilkeridis, T Bei, S Garantziotis, and C A Stratakis J Med Genet 2005; 42: e44. doi:10.1136/jmg.2005.033225 [Abstract] [Full text] [Erratum] [PDF] [Request Permissions]
	A combination of genetic polymorphisms increases the risk of progressive disease in chronic hepatitis C M M Richardson, E E Powell, H D Barrie, A D Clouston, D M Purdie, and J R Jonsson J Med Genet 2005; 42: e45. doi:10.1136/jmg.2005.032557 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Significant association between IRF6 820GA and non-syndromic cleft lip with or without cleft palate in the Thai population C Srichomthong, P Siriwan, and V Shotelersuk J Med Genet 2005; 42: e46. doi:10.1136/jmg.2005.032235 [Abstract] [Full text] [PDF] [Request Permissions]
	Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families C Ziviello, F Simonelli, F Testa, M Anastasi, S B Marzoli, B Falsini, D Ghiglione, C Macaluso, M P Manitto, C Garrè, A Ciccodicola, E Rinaldi, and S Banfi J Med Genet 2005; 42: e47. doi:10.1136/jmg.2005.031682 [Abstract] [Full text] [Web-only table] [PDF] [Request Permissions]