J Med Genet -- Table of Contents (45 [9])

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September 2008 (Volume 45, Number 9). [Index by author]

		Review Original articles Letter to JMG Electronic pages Mutation report 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

Complex and segmental uniparental disomy updated
D Kotzot
J Med Genet 2008; 45: 545-556. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 June 2008. doi:10.1136/jmg.2008.058016

Original articles

Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
J Balmaña, F Balaguer, S Castellví-Bel, E W Steyerberg, M Andreu, X Llor, R Jover, A Castells, S Syngal, and for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association
J Med Genet 2008; 45: 557-563. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 25 June 2008. doi:10.1136/jmg.2008.059311

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
V Laugel, C Dalloz, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, V Valayannopoulos, A Sarasin, and H Dollfus
J Med Genet 2008; 45: 564-571. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 July 2008. doi:10.1136/jmg.2007.057141

Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study
P Henneman, Y S Aulchenko, R R Frants, K W van Dijk, B A Oostra, and C M van Duijn
J Med Genet 2008; 45: 572-577. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 June 2008. doi:10.1136/jmg.2008.058388

Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans
J E Mangold, T J Payne, J Z Ma, G Chen, and M D Li
J Med Genet 2008; 45: 578-582. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 June 2008. doi:10.1136/jmg.2008.057844

Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes
R Khoureiry, S Ibala-Rhomdane, L Méry, T Blachère, J-F Guérin, J Lornage, and A Lefèvre
J Med Genet 2008; 45: 583-588. doi:10.1136/jmg.2008.057943 [Abstract] [Full text] [PDF] [Request Permissions]

Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer
M Sun, F Ma, X Zeng, Q Liu, X-L Zhao, F-X Wu, G-P Wu, Z-F Zhang, B Gu, Y-F Zhao, S-H Tian, B Lin, X-Y Kong, X-L Zhang, W Yang, W H-Y Lo, and X Zhang
J Med Genet 2008; 45: 589-595. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions]
Published Online First: 16 April 2008. doi:10.1136/jmg.2008.057646

Letter to JMG

Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism
C Piccoli, M Ripoli, G Quarato, R Scrima, A D’Aprile, D Boffoli, M Margaglione, C Criscuolo, G De Michele, A Sardanelli, S Papa, and N Capitanio
J Med Genet 2008; 45: 596-602. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 June 2008. doi:10.1136/jmg.2008.058628

Electronic pages

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
M G Shaikh, L Boyes, H Kingston, R Collins, G T N Besley, B Padmakumar, O Ismayl, I Hughes, C M Hall, C Hellerud, J C Achermann, and P E Clayton
J Med Genet 2008; 45: e1. doi:10.1136/jmg.2007.055129 [Abstract] [Full text] [PDF] [Request Permissions]

Mutation report

Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma
A Russell-Swetek, A N West, J E Mintern, J Jenkins, C Rodriguez-Galindo, R Ribeiro, and G P Zambetti
J Med Genet 2008; 45: 603-606. doi:10.1136/jmg.2008.059568 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

PostScript

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations
A Pollak, M Mueller-Malesinska, A Skórka, G Kostrzewa, M Oldak, L Korniszewski, H Skarzynski, and R Ploski
J Med Genet 2008; 45: 607-608. doi:10.1136/jmg.2008.059873 [Extract] [Full text] [PDF] [Request Permissions]

Correction
J Med Genet 2008; 45: 608. doi:10.1136/jmg.2008.056499corr1 [Extract] [Full text] [web only appendices] [PDF] [Request Permissions]

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	Complex and segmental uniparental disomy updated D Kotzot J Med Genet 2008; 45: 545-556. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 June 2008. doi:10.1136/jmg.2008.058016

	Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients J Balmaña, F Balaguer, S Castellví-Bel, E W Steyerberg, M Andreu, X Llor, R Jover, A Castells, S Syngal, and for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association J Med Genet 2008; 45: 557-563. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 25 June 2008. doi:10.1136/jmg.2008.059311

	*Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB* mutations, new diagnostic criteria and an approach to investigation** V Laugel, C Dalloz, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, V Valayannopoulos, A Sarasin, and H Dollfus J Med Genet 2008; 45: 564-571. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 July 2008. doi:10.1136/jmg.2007.057141

	Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study P Henneman, Y S Aulchenko, R R Frants, K W van Dijk, B A Oostra, and C M van Duijn J Med Genet 2008; 45: 572-577. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 June 2008. doi:10.1136/jmg.2008.058388

	Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans J E Mangold, T J Payne, J Z Ma, G Chen, and M D Li J Med Genet 2008; 45: 578-582. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 June 2008. doi:10.1136/jmg.2008.057844

	*Dynamic CpG methylation of the KCNQ1OT1* gene during maturation of human oocytes** R Khoureiry, S Ibala-Rhomdane, L Méry, T Blachère, J-F Guérin, J Lornage, and A Lefèvre J Med Genet 2008; 45: 583-588. doi:10.1136/jmg.2008.057943 [Abstract] [Full text] [PDF] [Request Permissions]

	*Triphalangeal thumb–polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH* enhancer** M Sun, F Ma, X Zeng, Q Liu, X-L Zhao, F-X Wu, G-P Wu, Z-F Zhang, B Gu, Y-F Zhao, S-H Tian, B Lin, X-Y Kong, X-L Zhang, W Yang, W H-Y Lo, and X Zhang J Med Genet 2008; 45: 589-595. [Abstract] [Full text] [web only figure] [PDF] [Request Permissions] Published Online First: 16 April 2008. doi:10.1136/jmg.2008.057646

	*Coexistence of mutations in PINK1* and mitochondrial DNA in early onset parkinsonism** C Piccoli, M Ripoli, G Quarato, R Scrima, A D’Aprile, D Boffoli, M Margaglione, C Criscuolo, G De Michele, A Sardanelli, S Papa, and N Capitanio J Med Genet 2008; 45: 596-602. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 June 2008. doi:10.1136/jmg.2008.058628

	Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita M G Shaikh, L Boyes, H Kingston, R Collins, G T N Besley, B Padmakumar, O Ismayl, I Hughes, C M Hall, C Hellerud, J C Achermann, and P E Clayton J Med Genet 2008; 45: e1. doi:10.1136/jmg.2007.055129 [Abstract] [Full text] [PDF] [Request Permissions]

	*Identification of a novel TP53* germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma** A Russell-Swetek, A N West, J E Mintern, J Jenkins, C Rodriguez-Galindo, R Ribeiro, and G P Zambetti J Med Genet 2008; 45: 603-606. doi:10.1136/jmg.2008.059568 [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]

	GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations A Pollak, M Mueller-Malesinska, A Skórka, G Kostrzewa, M Oldak, L Korniszewski, H Skarzynski, and R Ploski J Med Genet 2008; 45: 607-608. doi:10.1136/jmg.2008.059873 [Extract] [Full text] [PDF] [Request Permissions]

	Correction J Med Genet 2008; 45: 608. doi:10.1136/jmg.2008.056499corr1 [Extract] [Full text] [web only appendices] [PDF] [Request Permissions]