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November 2008 (Volume 45, Number 11). [Index by author]

		Reviews Original articles Letters to JMG 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.

Reviews

Clinical and molecular progress in hereditary paraganglioma
B E Baysal
J Med Genet 2008; 45: 689-694. doi:10.1136/jmg.2008.058560 [Abstract] [Full text] [PDF] [Request Permissions]

Clinical and molecular aspects of RAS related disorders
E Denayer, Th de Ravel, and E Legius
J Med Genet 2008; 45: 695-703. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 June 2008. doi:10.1136/jmg.2007.055772

Original articles

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
F Erdogan, L A Larsen, L Zhang, Z Tümer, N Tommerup, W Chen, J R Jacobsen, M Schubert, J Jurkatis, A Tzschach, H-H Ropers, and R Ullmann
J Med Genet 2008; 45: 704-709. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 19 August 2008. doi:10.1136/jmg.2008.058776

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, and B B A de Vries
J Med Genet 2008; 45: 710-720. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 15 July 2008. doi:10.1136/jmg.2008.058701

Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm
B Giusti, C Saracini, P Bolli, A Magi, I Sestini, E Sticchi, G Pratesi, R Pulli, C Pratesi, and R Abbate
J Med Genet 2008; 45: 721-730. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 17 July 2008. doi:10.1136/jmg.2008.057851

Letters to JMG

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
S Fischer, J Kohlhase, D Böhm, B Schweiger, D Hoffmann, M Heitmann, B Horsthemke, and D Wieczorek
J Med Genet 2008; 45: 731-737. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 8 July 2008. doi:10.1136/jmg.2008.059451

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
C Zweier, H Sticht, E K Bijlsma, J Clayton-Smith, S E Boonen, A Fryer, M T Greally, L Hoffmann, N S den Hollander, M Jongmans, S G Kant, M D King, S A Lynch, S McKee, A T Midro, S-M Park, V Ricotti, E Tarantino, M Wessels, M Peippo, and A Rauch
J Med Genet 2008; 45: 738-744. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 August 2008. doi:10.1136/jmg.2008.060129

The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia
C-C So, Y-Q Song, S T Tsang, L-F Tang, A Y Chan, E S Ma, and L-C Chan
J Med Genet 2008; 45: 745-751. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 12 August 2008. doi:10.1136/jmg.2008.060335

Polymorphisms in the C-type lectin genes cluster in chromosome 19 and predisposition to severe acute respiratory syndrome coronavirus (SARS-CoV) infection
H Li, N L-S Tang, P K-S Chan, C-Y Wang, D S-C Hui, C Luk, R Kwok, W Huang, J J-Y Sung, Q-P Kong, and Y-P Zhang
J Med Genet 2008; 45: 752-758. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 12 August 2008. doi:10.1136/jmg.2008.058966

Mutation report

Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
F-G Debray, M Lambert, B Lemieux, J F Soucy, R Drouin, D Fenyves, J Dubé, B Maranda, R Laframboise, and G A Mitchell
J Med Genet 2008; 45: 759-764. doi:10.1136/jmg.2008.059097 [Abstract] [Full text] [PDF] [Request Permissions]

PostScript

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutaion carriers
P A James, M Harris, G J Lindeman, and G Mitchell
J Med Genet 2008; 45: 765-766. doi:10.1136/jmg.2008.061903 [Extract] [Full text] [PDF] [Request Permissions]

Intergenerational CAG repeat instability is highly heritable in Huntington's disease
N A Aziz, M J van Belzen, and R A C Roos
J Med Genet 2008; 45: 766. doi:10.1136/jmg.2008.062133 [Extract] [Full text] [PDF] [Request Permissions]

Ring syndrome: still true?
E Rossi, J Messa, and O Zuffardi
J Med Genet 2008; 45: 766-768. doi:10.1136/jmg.2008.060442 [Extract] [Full text] [PDF] [Request Permissions]

Correction
J Med Genet 2008; 45: 768. doi:10.1136/jmg.2008.059055corr1 [Extract] [Full text] [PDF] [Request Permissions]

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	Clinical and molecular progress in hereditary paraganglioma B E Baysal J Med Genet 2008; 45: 689-694. doi:10.1136/jmg.2008.058560 [Abstract] [Full text] [PDF] [Request Permissions]

	*Clinical and molecular aspects of RAS* related disorders** E Denayer, Th de Ravel, and E Legius J Med Genet 2008; 45: 695-703. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 June 2008. doi:10.1136/jmg.2007.055772

	High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease F Erdogan, L A Larsen, L Zhang, Z Tümer, N Tommerup, W Chen, J R Jacobsen, M Schubert, J Jurkatis, A Tzschach, H-H Ropers, and R Ullmann J Med Genet 2008; 45: 704-709. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 19 August 2008. doi:10.1136/jmg.2008.058776

	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, and B B A de Vries J Med Genet 2008; 45: 710-720. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 15 July 2008. doi:10.1136/jmg.2008.058701

	Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm B Giusti, C Saracini, P Bolli, A Magi, I Sestini, E Sticchi, G Pratesi, R Pulli, C Pratesi, and R Abbate J Med Genet 2008; 45: 721-730. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 17 July 2008. doi:10.1136/jmg.2008.057851

	*Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia* S Fischer, J Kohlhase, D Böhm, B Schweiger, D Hoffmann, M Heitmann, B Horsthemke, and D Wieczorek J Med Genet 2008; 45: 731-737. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 8 July 2008. doi:10.1136/jmg.2008.059451

	Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients C Zweier, H Sticht, E K Bijlsma, J Clayton-Smith, S E Boonen, A Fryer, M T Greally, L Hoffmann, N S den Hollander, M Jongmans, S G Kant, M D King, S A Lynch, S McKee, A T Midro, S-M Park, V Ricotti, E Tarantino, M Wessels, M Peippo, and A Rauch J Med Genet 2008; 45: 738-744. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 August 2008. doi:10.1136/jmg.2008.060129

	*The HBS1L-MYB* intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of β-thalassaemia** C-C So, Y-Q Song, S T Tsang, L-F Tang, A Y Chan, E S Ma, and L-C Chan J Med Genet 2008; 45: 745-751. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 12 August 2008. doi:10.1136/jmg.2008.060335

	Polymorphisms in the C-type lectin genes cluster in chromosome 19 and predisposition to severe acute respiratory syndrome coronavirus (SARS-CoV) infection H Li, N L-S Tang, P K-S Chan, C-Y Wang, D S-C Hui, C Luk, R Kwok, W Huang, J J-Y Sung, Q-P Kong, and Y-P Zhang J Med Genet 2008; 45: 752-758. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 12 August 2008. doi:10.1136/jmg.2008.058966

	Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15 F-G Debray, M Lambert, B Lemieux, J F Soucy, R Drouin, D Fenyves, J Dubé, B Maranda, R Laframboise, and G A Mitchell J Med Genet 2008; 45: 759-764. doi:10.1136/jmg.2008.059097 [Abstract] [Full text] [PDF] [Request Permissions]

	Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutaion carriers P A James, M Harris, G J Lindeman, and G Mitchell J Med Genet 2008; 45: 765-766. doi:10.1136/jmg.2008.061903 [Extract] [Full text] [PDF] [Request Permissions]

	Intergenerational CAG repeat instability is highly heritable in Huntington's disease N A Aziz, M J van Belzen, and R A C Roos J Med Genet 2008; 45: 766. doi:10.1136/jmg.2008.062133 [Extract] [Full text] [PDF] [Request Permissions]

	Ring syndrome: still true? E Rossi, J Messa, and O Zuffardi J Med Genet 2008; 45: 766-768. doi:10.1136/jmg.2008.060442 [Extract] [Full text] [PDF] [Request Permissions]

	Correction J Med Genet 2008; 45: 768. doi:10.1136/jmg.2008.059055corr1 [Extract] [Full text] [PDF] [Request Permissions]