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December 2008 (Volume 45, Number 12). [Index by author]

		Review Original articles Letters to JMG PostScript

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Table of Contents (PDF) | Front Matter (PDF)

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.

Review

Pseudomitochondrial genome haunts disease studies
Y-G Yao, Q-P Kong, A Salas, and H-J Bandelt
J Med Genet 2008; 45: 769-772. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 July 2008. doi:10.1136/jmg.2008.059782

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes
J Rochette, P Roll, and P Szepetowski
J Med Genet 2008; 45: 773-779. doi:10.1136/jmg.2008.059519 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

A PCSK9 variant and familial combined hyperlipidaemia
M Abifadel, L Bernier, G Dubuc, G Nuel, J-P Rabès, J Bonneau, A Marques, M Marduel, M Devillers, A Munnich, D Erlich, M Varret, M Roy, J Davignon, and C Boileau
J Med Genet 2008; 45: 780-786. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 August 2008. doi:10.1136/jmg.2008.059980

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
F E Abidi, L Holloway, C A Moore, D D Weaver, R J Simensen, R E Stevenson, R C Rogers, and C E Schwartz
J Med Genet 2008; 45: 787-793. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 August 2008. doi:10.1136/jmg.2008.058990

Reversible phenotype in a mouse model of Hutchinson–Gilford progeria syndrome
H Sagelius, Y Rosengardten, E Schmidt, C Sonnabend, B Rozell, and M Eriksson
J Med Genet 2008; 45: 794-801. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 August 2008. doi:10.1136/jmg.2008.060772

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
N Ishikawa, S Okada, M Miki, K Shirao, H Kihara, M Tsumura, K Nakamura, H Kawaguchi, M Ohtsubo, S Yasunaga, K Matsubara, M Sako, J Hara, M Shiohara, S Kojima, T Sato, Y Takihara, and M Kobayashi
J Med Genet 2008; 45: 802-807. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 8 July 2008. doi:10.1136/jmg.2008.058297

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti, and S Cocozza
J Med Genet 2008; 45: 808-812. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 August 2008. doi:10.1136/jmg.2008.058594

Association of a null allele of SPRN with variant Creutzfeldt–Jakob disease
J A Beck, T A Campbell, G Adamson, M Poulter, J B Uphill, E Molou, J Collinge, and S Mead
J Med Genet 2008; 45: 813-817. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.061804

Letters to JMG

Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese
X-j Luo, H-b Diao, J-k Wang, H Zhang, Z-m Zhao, and B Su
J Med Genet 2008; 45: 818-826. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 21 August 2008. doi:10.1136/jmg.2008.060657

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia
L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, and A Rossi
J Med Genet 2008; 45: 827-831. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 August 2008. doi:10.1136/jmg.2007.057158

PostScript

No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes
G Neri, J Allanson, and M I Kavamura
J Med Genet 2008; 45: 832. doi:10.1136/jmg.2008.063263 [Extract] [Full text] [PDF] [Request Permissions]

Corrections
J Med Genet 2008; 45: 832. doi:10.1136/jmg.2005.036178corr1 [Extract] [Full text] [PDF] [Request Permissions]

Corrections
J Med Genet 2008; 45: 832. doi:10.1136/jmg.2008.057943corr1 [Extract] [Full text] [PDF] [Request Permissions]

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	Pseudomitochondrial genome haunts disease studies Y-G Yao, Q-P Kong, A Salas, and H-J Bandelt J Med Genet 2008; 45: 769-772. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 July 2008. doi:10.1136/jmg.2008.059782

	Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes J Rochette, P Roll, and P Szepetowski J Med Genet 2008; 45: 773-779. doi:10.1136/jmg.2008.059519 [Abstract] [Full text] [PDF] [Request Permissions]

	*A PCSK9* variant and familial combined hyperlipidaemia** M Abifadel, L Bernier, G Dubuc, G Nuel, J-P Rabès, J Bonneau, A Marques, M Marduel, M Devillers, A Munnich, D Erlich, M Varret, M Roy, J Davignon, and C Boileau J Med Genet 2008; 45: 780-786. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 August 2008. doi:10.1136/jmg.2008.059980

	*Mutations in JARID1C* are associated with X-linked mental retardation, short stature and hyperreflexia** F E Abidi, L Holloway, C A Moore, D D Weaver, R J Simensen, R E Stevenson, R C Rogers, and C E Schwartz J Med Genet 2008; 45: 787-793. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 August 2008. doi:10.1136/jmg.2008.058990

	Reversible phenotype in a mouse model of Hutchinson–Gilford progeria syndrome H Sagelius, Y Rosengardten, E Schmidt, C Sonnabend, B Rozell, and M Eriksson J Med Genet 2008; 45: 794-801. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 August 2008. doi:10.1136/jmg.2008.060772

	*Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1* gene** N Ishikawa, S Okada, M Miki, K Shirao, H Kihara, M Tsumura, K Nakamura, H Kawaguchi, M Ohtsubo, S Yasunaga, K Matsubara, M Sako, J Hara, M Shiohara, S Kojima, T Sato, Y Takihara, and M Kobayashi J Med Genet 2008; 45: 802-807. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 8 July 2008. doi:10.1136/jmg.2008.058297

	DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, S Sacchetti, S Keller, V E Avvedimento, L Chiariotti, and S Cocozza J Med Genet 2008; 45: 808-812. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 August 2008. doi:10.1136/jmg.2008.058594

	*Association of a null allele of SPRN* with variant Creutzfeldt–Jakob disease** J A Beck, T A Campbell, G Adamson, M Poulter, J B Uphill, E Molou, J Collinge, and S Mead J Med Genet 2008; 45: 813-817. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 September 2008. doi:10.1136/jmg.2008.061804

	*Association of haplotypes spanning PDZ-GEF2, LOC728637* and ACSL6 with schizophrenia in Han Chinese** X-j Luo, H-b Diao, J-k Wang, H Zhang, Z-m Zhao, and B Su J Med Genet 2008; 45: 818-826. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 21 August 2008. doi:10.1136/jmg.2008.060657

	*A novel mutation in the sulfate transporter gene SLC26A2* (DTDST) specific to the Finnish population causes de la Chapelle dysplasia** L Bonafé, J Hästbacka, A de la Chapelle, A B Campos-Xavier, C Chiesa, A Forlino, A Superti-Furga, and A Rossi J Med Genet 2008; 45: 827-831. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 August 2008. doi:10.1136/jmg.2007.057158

	No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes G Neri, J Allanson, and M I Kavamura J Med Genet 2008; 45: 832. doi:10.1136/jmg.2008.063263 [Extract] [Full text] [PDF] [Request Permissions]

	Corrections J Med Genet 2008; 45: 832. doi:10.1136/jmg.2005.036178corr1 [Extract] [Full text] [PDF] [Request Permissions]

	Corrections J Med Genet 2008; 45: 832. doi:10.1136/jmg.2008.057943corr1 [Extract] [Full text] [PDF] [Request Permissions]