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November 2007 (Volume 44, Number 11). [Index by author]

		Review Original articles Short report Letters to JMG

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

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Review

Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
P de Bie, P Muller, C Wijmenga, and L W J Klomp
J Med Genet 2007; 44: 673-688. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 23 August 2007. doi:10.1136/jmg.2007.052746

Original articles

Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease
C M Lewis, S C L Whitwell, A Forbes, J Sanderson, C G Mathew, and T M Marteau
J Med Genet 2007; 44: 689-694. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051672

Factors associated with HD CAG repeat instability in Huntington disease
V C Wheeler, F Persichetti, S M McNeil, J S Mysore, S S Mysore, M E MacDonald, R H Myers, J F Gusella, N S Wexler, and The US–Venezuela Collaborative Research Group
J Med Genet 2007; 44: 695-701. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 27 July 2007. doi:10.1136/jmg.2007.050930

High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome
S Aretz, D Stienen, S Uhlhaas, M Stolte, M M Entius, S Loff, W Back, A Kaufmann, K-M Keller, S H Blaas, R Siebert, S Vogt, S Spranger, E Holinski-Feder, L Sunde, P Propping, and W Friedl
J Med Genet 2007; 44: 702-709. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052506

A genome-wide scan for genes involved in primary vesicoureteric reflux
H Kelly, C M Molony, J M Darlow, M E Pirker, A Yoneda, A J Green, P Puri, and D E Barton
J Med Genet 2007; 44: 710-717. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051086

Short report

Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease
P Vahteristo, A Kokko, O Saksela, K Aittomäki, and L A Aaltonen
J Med Genet 2007; 44: 718-720. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051342

Letters to JMG

A novel hearing loss-related mutation occurring in the GJB2 basal promoter
T D Matos, H Caria, H Simões-Teixeira, T Aasen, R Nickel, D J Jagger, A O’Neill, D P Kelsell, and G Fialho
J Med Genet 2007; 44: 721-725. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 July 2007. doi:10.1136/jmg.2007.050682

Germline E-cadherin mutations in familial lobular breast cancer
S Masciari, N Larsson, J Senz, N Boyd, P Kaurah, M J Kandel, L N Harris, H C Pinheiro, A Troussard, P Miron, N Tung, C Oliveira, L Collins, S Schnitt, J E Garber, and D Huntsman
J Med Genet 2007; 44: 726-731. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051268

Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing
K Aktan-Collan, A Haukkala, K Pylvänäinen, H J Järvinen, L A Aaltonen, P Peltomäki, E Rantanen, H Kääriäinen, and J-P Mecklin
J Med Genet 2007; 44: 732-738. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 July 2007. doi:10.1136/jmg.2007.051581

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia
Y Saillour, G Zanni, V Des Portes, D Heron, L Guibaud, M T Iba-Zizen, J L Pedespan, K Poirier, L Castelnau, C Julien, C Franconnet, D Bonthron, M E Porteous, J Chelly, and T Bienvenu
J Med Genet 2007; 44: 739-744. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 6 July 2007. doi:10.1136/jmg.2007.051334

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	Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes P de Bie, P Muller, C Wijmenga, and L W J Klomp J Med Genet 2007; 44: 673-688. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 23 August 2007. doi:10.1136/jmg.2007.052746

	Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease C M Lewis, S C L Whitwell, A Forbes, J Sanderson, C G Mathew, and T M Marteau J Med Genet 2007; 44: 689-694. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051672

	Factors associated with HD CAG repeat instability in Huntington disease V C Wheeler, F Persichetti, S M McNeil, J S Mysore, S S Mysore, M E MacDonald, R H Myers, J F Gusella, N S Wexler, and The US–Venezuela Collaborative Research Group J Med Genet 2007; 44: 695-701. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 27 July 2007. doi:10.1136/jmg.2007.050930

	High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome S Aretz, D Stienen, S Uhlhaas, M Stolte, M M Entius, S Loff, W Back, A Kaufmann, K-M Keller, S H Blaas, R Siebert, S Vogt, S Spranger, E Holinski-Feder, L Sunde, P Propping, and W Friedl J Med Genet 2007; 44: 702-709. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052506

	A genome-wide scan for genes involved in primary vesicoureteric reflux H Kelly, C M Molony, J M Darlow, M E Pirker, A Yoneda, A J Green, P Puri, and D E Barton J Med Genet 2007; 44: 710-717. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051086

	Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease P Vahteristo, A Kokko, O Saksela, K Aittomäki, and L A Aaltonen J Med Genet 2007; 44: 718-720. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051342

	*A novel hearing loss-related mutation occurring in the GJB2* basal promoter** T D Matos, H Caria, H Simões-Teixeira, T Aasen, R Nickel, D J Jagger, A O’Neill, D P Kelsell, and G Fialho J Med Genet 2007; 44: 721-725. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 July 2007. doi:10.1136/jmg.2007.050682

	Germline E-cadherin mutations in familial lobular breast cancer S Masciari, N Larsson, J Senz, N Boyd, P Kaurah, M J Kandel, L N Harris, H C Pinheiro, A Troussard, P Miron, N Tung, C Oliveira, L Collins, S Schnitt, J E Garber, and D Huntsman J Med Genet 2007; 44: 726-731. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 July 2007. doi:10.1136/jmg.2007.051268

	Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing K Aktan-Collan, A Haukkala, K Pylvänäinen, H J Järvinen, L A Aaltonen, P Peltomäki, E Rantanen, H Kääriäinen, and J-P Mecklin J Med Genet 2007; 44: 732-738. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 July 2007. doi:10.1136/jmg.2007.051581

	Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia Y Saillour, G Zanni, V Des Portes, D Heron, L Guibaud, M T Iba-Zizen, J L Pedespan, K Poirier, L Castelnau, C Julien, C Franconnet, D Bonthron, M E Porteous, J Chelly, and T Bienvenu J Med Genet 2007; 44: 739-744. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 6 July 2007. doi:10.1136/jmg.2007.051334