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December 2006 (Volume 43, Number 12). [Index by author]

		Reviews Original articles Short reports Letters to JMG Miscellaneous Electronic letters Online mutation report

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To see an article, click its [Full Text] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstracts' button. To see one abstract at a time, click its [Abstract] link.

Reviews

The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis
Sonia Abilleira, Steve Bevan, and Hugh S Markus
J Med Genet 2006; 43: 897-901. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 August 2006. doi:10.1136/jmg.2006.040808

Original articles

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
S Rossignol, V Steunou, C Chalas, A Kerjean, M Rigolet, E Viegas-Pequignot, P Jouannet, Y Le Bouc, and C Gicquel
J Med Genet 2006; 43: 902-907. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.042135

Clinical features in a family with an R460H mutation in transforming growth factor ß receptor 2 gene
C Law, D Bunyan, B Castle, L Day, I Simpson, G Westwood, and B Keeton
J Med Genet 2006; 43: 908-916. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 2 August 2006. doi:10.1136/jmg.2006.042176

Three single-nucleotide polymorphisms in LPA account for most of the increase in lipoprotein(a) level elevation in African Americans compared with European Americans
J-P Chretien, J Coresh, Y Berthier-Schaad, W H L Kao, N E Fink, M J Klag, S M Marcovina, F Giaculli, and M W Smith
J Med Genet 2006; 43: 917-923. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 July 2006. doi:10.1136/jmg.2006.042119

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene
Van Khanh Tran, Yasuhiro Takeshima, Zhujun Zhang, Mariko Yagi, Atsushi Nishiyama, Yasuaki Habara, and Masafumi Matsuo
J Med Genet 2006; 43: 924-930. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 May 2006. doi:10.1136/jmg.2006.042317

Short reports

New Alzheimer’s disease locus on chromosome 8
V Giedraitis, M Hedlund, L Skoglund, E Blom, S Ingvast, R Brundin, L Lannfelt, and A Glaser
J Med Genet 2006; 43: 931-935. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.043000

Letters to JMG

AMP-kinase ${alpha}$ 2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women
N J Spencer-Jones, D Ge, H Snieder, U Perks, R Swaminathan, T D Spector, N D Carter, and S D O’Dell
J Med Genet 2006; 43: 936-942. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]
Published Online First: 26 June 2006. doi:10.1136/jmg.2006.041988

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
S E Humphries, R A Whittall, C S Hubbart, S Maplebeck, J A Cooper, A K Soutar, R Naoumova, G R Thompson, M Seed, P N Durrington, J P Miller, D J B Betteridge, H A W Neil, for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee
J Med Genet 2006; 43: 943-949. doi:10.1136/jmg.2006.038356 [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]

MDM2 SNP309 accelerates colorectal tumour formation in women
Gareth L Bond, Chiara Menin, Roberta Bertorelle, Pia Alhopuro, Lauri A Aaltonen, and Arnold J Levine
J Med Genet 2006; 43: 950-952. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.043539

Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
A Santoro, S Cannella, G Bossi, F Gallo, A Trizzino, D Pende, F Dieli, G Bruno, J C Stinchcombe, C Micalizzi, C De Fusco, C Danesino, L Moretta, L D Notarangelo, G M Griffiths, and M Aricò
J Med Genet 2006; 43: 953-960. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2006. doi:10.1136/jmg.2006.041863

Miscellaneous

Intestinal permeability in families with Crohn’s disease
J Med Genet 2006; 43: 923. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

Comprehensive diagnosis of Rett’s syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients
Y Petel-Galil, B Ben-Zeev, I Greenbaum, M Vecsler, B Goldman, H Lohi, B A Minassian, and E Gak
J Med Genet 2006; 43: e56. doi:10.1136/jmg.2006.041285 [Abstract] [Full text] [PDF] [Request Permissions]

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family
Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis, K Psilas, M Grigoriadou, Y Zhao, S Kamaya, G Aperis, M B Petersen, and K Zhang
J Med Genet 2006; 43: e57. doi:10.1136/jmg.2005.040188 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation report

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, and A Forlino
J Med Genet 2006; 43: e58. doi:10.1136/jmg.2006.043315 [Abstract] [Full text] [PDF] [Request Permissions]

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	The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis Sonia Abilleira, Steve Bevan, and Hugh S Markus J Med Genet 2006; 43: 897-901. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 August 2006. doi:10.1136/jmg.2006.040808

	The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region S Rossignol, V Steunou, C Chalas, A Kerjean, M Rigolet, E Viegas-Pequignot, P Jouannet, Y Le Bouc, and C Gicquel J Med Genet 2006; 43: 902-907. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.042135

	Clinical features in a family with an R460H mutation in transforming growth factor ß receptor 2 gene C Law, D Bunyan, B Castle, L Day, I Simpson, G Westwood, and B Keeton J Med Genet 2006; 43: 908-916. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 2 August 2006. doi:10.1136/jmg.2006.042176

	*Three single-nucleotide polymorphisms in LPA* account for most of the increase in lipoprotein(a) level elevation in African Americans compared with European Americans** J-P Chretien, J Coresh, Y Berthier-Schaad, W H L Kao, N E Fink, M J Klag, S M Marcovina, F Giaculli, and M W Smith J Med Genet 2006; 43: 917-923. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 July 2006. doi:10.1136/jmg.2006.042119

	Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene Van Khanh Tran, Yasuhiro Takeshima, Zhujun Zhang, Mariko Yagi, Atsushi Nishiyama, Yasuaki Habara, and Masafumi Matsuo J Med Genet 2006; 43: 924-930. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 31 May 2006. doi:10.1136/jmg.2006.042317

	New Alzheimer’s disease locus on chromosome 8 V Giedraitis, M Hedlund, L Skoglund, E Blom, S Ingvast, R Brundin, L Lannfelt, and A Glaser J Med Genet 2006; 43: 931-935. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.043000

	*AMP-kinase ${alpha}$ 2 subunit gene PRKAA2* variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal women** N J Spencer-Jones, D Ge, H Snieder, U Perks, R Swaminathan, T D Spector, N D Carter, and S D O’Dell J Med Genet 2006; 43: 936-942. [Abstract] [Full text] [web only table] [PDF] [Request Permissions] Published Online First: 26 June 2006. doi:10.1136/jmg.2006.041988

	Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk S E Humphries, R A Whittall, C S Hubbart, S Maplebeck, J A Cooper, A K Soutar, R Naoumova, G R Thompson, M Seed, P N Durrington, J P Miller, D J B Betteridge, H A W Neil, for the Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee J Med Genet 2006; 43: 943-949. doi:10.1136/jmg.2006.038356 [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]

	MDM2 SNP309 accelerates colorectal tumour formation in women Gareth L Bond, Chiara Menin, Roberta Bertorelle, Pia Alhopuro, Lauri A Aaltonen, and Arnold J Levine J Med Genet 2006; 43: 950-952. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.043539

	Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis A Santoro, S Cannella, G Bossi, F Gallo, A Trizzino, D Pende, F Dieli, G Bruno, J C Stinchcombe, C Micalizzi, C De Fusco, C Danesino, L Moretta, L D Notarangelo, G M Griffiths, and M Aricò J Med Genet 2006; 43: 953-960. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2006. doi:10.1136/jmg.2006.041863

	Intestinal permeability in families with Crohn’s disease J Med Genet 2006; 43: 923. [Extract] [Full text] [PDF] [Request Permissions]

	Comprehensive diagnosis of Rett’s syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients Y Petel-Galil, B Ben-Zeev, I Greenbaum, M Vecsler, B Goldman, H Lohi, B A Minassian, and E Gak J Med Genet 2006; 43: e56. doi:10.1136/jmg.2006.041285 [Abstract] [Full text] [PDF] [Request Permissions]

	A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis, K Psilas, M Grigoriadou, Y Zhao, S Kamaya, G Aperis, M B Petersen, and K Zhang J Med Genet 2006; 43: e57. doi:10.1136/jmg.2005.040188 [Abstract] [Full text] [PDF] [Request Permissions]