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October 2006 (Volume 43, Number 10). [Index by author]

		Reviews Original articles Short reports Letters to JMG Electronic letters

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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 molecular genetics of Marfan syndrome and related disorders
P N Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, A De Paepe, H C Dietz, G Guo, P A Handford, D P Judge, C M Kielty, B Loeys, D M Milewicz, A Ney, F Ramirez, D P Reinhardt, K Tiedemann, P Whiteman, and M Godfrey
J Med Genet 2006; 43: 769-787. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 March 2006. doi:10.1136/jmg.2005.039669

Original articles

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development
C Bouchet, J Steffann, J Corcos, S Monnot, V Paquis, A Rötig, S Lebon, P Levy, G Royer, I Giurgea, N Gigarel, A Benachi, Y Dumez, A Munnich, and J P Bonnefont
J Med Genet 2006; 43: 788-792. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2006. doi:10.1136/jmg.2005.034140

SMAD4 mutations found in unselected HHT patients
C J Gallione, J A Richards, T G W Letteboer, D Rushlow, N L Prigoda, T P Leedom, A Ganguly, A Castells, J K Ploos van Amstel, C J J Westermann, R E Pyeritz, and D A Marchuk
J Med Genet 2006; 43: 793-797. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 April 2006. doi:10.1136/jmg.2006.041517

Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study
Yan-fang Guo, Dong-hai Xiong, Hui Shen, Lan-juan Zhao, Peng Xiao, Yan Guo, Wei Wang, Tie-lin Yang, Robert R Recker, and Hong-wen Deng
J Med Genet 2006; 43: 798-803. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 May 2006. doi:10.1136/jmg.2006.041715

Size bias of fragile X premutation alleles in late-onset movement disorders
Sebastien Jacquemont, Maureen A Leehey, Randi J Hagerman, Laurel A Beckett, and Paul J Hagerman
J Med Genet 2006; 43: 804-809. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 24 May 2006. doi:10.1136/jmg.2006.042374

Short reports

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, and V-F Mautner
J Med Genet 2006; 43: 810-813. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 March 2006. doi:10.1136/jmg.2006.041095

Very mild cases of Rett syndrome with skewed X inactivation
P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, and J Gärtner
J Med Genet 2006; 43: 814-816. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 May 2006. doi:10.1136/jmg.2006.042077

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect
Dau-Ming Niu, Betau Hwang, Han-Wei Hwang, Nana H Wang, Jer-Yuarn Wu, Pi-Chang Lee, Jen-Chung Chien, Ru-Chi Shieh, and Yuan-Tsong Chen
J Med Genet 2006; 43: 817-821. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 17 May 2006. doi:10.1136/jmg.2006.042192

Letters to JMG

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
M C Bonaglia, R Giorda, E Mani, G Aceti, B-M Anderlid, A Baroncini, T Pramparo, and O Zuffardi
J Med Genet 2006; 43: 822-828. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 November 2005. doi:10.1136/jmg.2005.038604

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, M J H Baars, L C D Wijnaendts, I Stolte-Dijkstra, M Alders, and J M van Hagen
J Med Genet 2006; 43: 829-832. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 May 2006. doi:10.1136/jmg.2005.040329

Electronic letters

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23
E Pras, O Mahler, V Kumar, M Frydman, N Gefen, E Pras, and J F Hejtmancik
J Med Genet 2006; 43: e50. doi:10.1136/jmg.2005.034876 [Abstract] [Full text] [PDF] [Request Permissions]

Angiotensinogen and transforming growth factor ß1: novel genes in the pathogenesis of Crohn’s disease
G E Hume, E V Fowler, D Lincoln, R Eri, D Templeton, T H Florin, J A Cavanaugh, and G L Radford-Smith
J Med Genet 2006; 43: e51. doi:10.1136/jmg.2005.040477 [Abstract] [Full text] [PDF] [Request Permissions]

Iron genes, iron load and risk of Alzheimer’s disease
D J Lehmann, M Worwood, R Ellis, V L J Wimhurst, A T Merryweather-Clarke, D R Warden, A D Smith, and K J H Robson
J Med Genet 2006; 43: e52. doi:10.1136/jmg.2006.040519 [Abstract] [Full text] [PDF] [Request Permissions]

Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study
C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, the KORA group, and H A Kretzschmar
J Med Genet 2006; 43: e53. doi:10.1136/jmg.2006.040931 [Abstract] [Full text] [web only table] [PDF] [Request Permissions]

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	Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development C Bouchet, J Steffann, J Corcos, S Monnot, V Paquis, A Rötig, S Lebon, P Levy, G Royer, I Giurgea, N Gigarel, A Benachi, Y Dumez, A Munnich, and J P Bonnefont J Med Genet 2006; 43: 788-792. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2006. doi:10.1136/jmg.2005.034140

	SMAD4 mutations found in unselected HHT patients C J Gallione, J A Richards, T G W Letteboer, D Rushlow, N L Prigoda, T P Leedom, A Ganguly, A Castells, J K Ploos van Amstel, C J J Westermann, R E Pyeritz, and D A Marchuk J Med Genet 2006; 43: 793-797. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 April 2006. doi:10.1136/jmg.2006.041517

	*Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study* Yan-fang Guo, Dong-hai Xiong, Hui Shen, Lan-juan Zhao, Peng Xiao, Yan Guo, Wei Wang, Tie-lin Yang, Robert R Recker, and Hong-wen Deng J Med Genet 2006; 43: 798-803. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 May 2006. doi:10.1136/jmg.2006.041715

	Size bias of fragile X premutation alleles in late-onset movement disorders Sebastien Jacquemont, Maureen A Leehey, Randi J Hagerman, Laurel A Beckett, and Paul J Hagerman J Med Genet 2006; 43: 804-809. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 24 May 2006. doi:10.1136/jmg.2006.042374

	Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1 M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, and V-F Mautner J Med Genet 2006; 43: 810-813. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 March 2006. doi:10.1136/jmg.2006.041095

	Very mild cases of Rett syndrome with skewed X inactivation P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, and J Gärtner J Med Genet 2006; 43: 814-816. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 May 2006. doi:10.1136/jmg.2006.042077

	A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect Dau-Ming Niu, Betau Hwang, Han-Wei Hwang, Nana H Wang, Jer-Yuarn Wu, Pi-Chang Lee, Jen-Chung Chien, Ru-Chi Shieh, and Yuan-Tsong Chen J Med Genet 2006; 43: 817-821. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 17 May 2006. doi:10.1136/jmg.2006.042192

	*Identification of a recurrent breakpoint within the SHANK3* gene in the 22q13.3 deletion syndrome** M C Bonaglia, R Giorda, E Mani, G Aceti, B-M Anderlid, A Baroncini, T Pramparo, and O Zuffardi J Med Genet 2006; 43: 822-828. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 November 2005. doi:10.1136/jmg.2005.038604

	*Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3* gene** R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, M J H Baars, L C D Wijnaendts, I Stolte-Dijkstra, M Alders, and J M van Hagen J Med Genet 2006; 43: 829-832. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 May 2006. doi:10.1136/jmg.2005.040329

	A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23 E Pras, O Mahler, V Kumar, M Frydman, N Gefen, E Pras, and J F Hejtmancik J Med Genet 2006; 43: e50. doi:10.1136/jmg.2005.034876 [Abstract] [Full text] [PDF] [Request Permissions]

	Angiotensinogen and transforming growth factor ß1: novel genes in the pathogenesis of Crohn’s disease G E Hume, E V Fowler, D Lincoln, R Eri, D Templeton, T H Florin, J A Cavanaugh, and G L Radford-Smith J Med Genet 2006; 43: e51. doi:10.1136/jmg.2005.040477 [Abstract] [Full text] [PDF] [Request Permissions]

	Iron genes, iron load and risk of Alzheimer’s disease D J Lehmann, M Worwood, R Ellis, V L J Wimhurst, A T Merryweather-Clarke, D R Warden, A D Smith, and K J H Robson J Med Genet 2006; 43: e52. doi:10.1136/jmg.2006.040519 [Abstract] [Full text] [PDF] [Request Permissions]

	*Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP* gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study** C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, the KORA group, and H A Kretzschmar J Med Genet 2006; 43: e53. doi:10.1136/jmg.2006.040931 [Abstract] [Full text] [web only table] [PDF] [Request Permissions]