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July 2006 (Volume 43, Number 7). [Index by author]

		Reviews Commentaries Original articles Short reports Letters to JMG Electronic letters Online mutation reports

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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

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
C Shaw-Smith
J Med Genet 2006; 43: 545-554. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 18 November 2005. doi:10.1136/jmg.2005.038158

Commentaries

Advances in genetics: what are the benefits for patients?
A Munnich
J Med Genet 2006; 43: 555-556. [Extract] [Full text] [PDF] [Request Permissions]
Published Online First: 9 December 2005. doi:10.1136/jmg.2005.039966

Original articles

The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson’s disease in European populations
M Sharma, J C Mueller, A Zimprich, P Lichtner, A Hofer, P Leitner, S Maass, D Berg, A Dürr, V Bonifati, G De Michele, B Oostra, A Brice, N W Wood, B Muller-Myhsok, T Gasser, European Consortium on Genetic Susceptibility in Parkinson’s Disease (GSPD)
J Med Genet 2006; 43: 557-562. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 January 2006. doi:10.1136/jmg.2005.039149

Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes
M L Hamshere, N M Williams, N Norton, H Williams, A G Cardno, S Zammit, L A Jones, K C Murphy, R D Sanders, G McCarthy, M Y Gray, G Jones, P Holmans, M C O’Donovan, M J Owen, and N Craddock
J Med Genet 2006; 43: 563-567. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 October 2005. doi:10.1136/jmg.2005.035345

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
Z A Bhuiyan, M Klein, P Hammond, A van Haeringen, M M A M Mannens, I Van Berckelaer-Onnes, and R C M Hennekam
J Med Genet 2006; 43: 568-575. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 October 2005. doi:10.1136/jmg.2005.038240

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
R Varga, M R Avenarius, P M Kelley, B J Keats, C I Berlin, L J Hood, T G Morlet, S M Brashears, A Starr, E S Cohn, R J H Smith, and W J Kimberling
J Med Genet 2006; 43: 576-581. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 21 December 2005. doi:10.1136/jmg.2005.038612

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)
M A Abrera-Abeleda, C Nishimura, J L H Smith, S Sethi, J L McRae, B F Murphy, G Silvestri, C Skerka, M Józsi, P F Zipfel, G S Hageman, and R J H Smith
J Med Genet 2006; 43: 582-589. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 18 November 2005. doi:10.1136/jmg.2005.038315

Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes
E Salmela, O Taskinen, J K Seppänen, P Sistonen, M J Daly, P Lahermo, M-L Savontaus, and J Kere
J Med Genet 2006; 43: 590-597. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 January 2006. doi:10.1136/jmg.2005.038414

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts
J W Park, J Cai, I McIntosh, E W Jabs, M D Fallin, R Ingersoll, J B Hetmanski, M Vekemans, T Attie-Bitach, M Lovett, A F Scott, and T H Beaty
J Med Genet 2006; 43: 598-608. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 13 January 2006. doi:10.1136/jmg.2005.040162

Short reports

Phenotype of triploid embryos
D E McFadden and W P Robinson
J Med Genet 2006; 43: 609-612. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 October 2005. doi:10.1136/jmg.2005.037747

Letters to JMG

Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?
K T Barker, W D Foulkes, C E Schwartz, C Labadie, F Monsell, R S Houlston, and J Harper
J Med Genet 2006; 43: 613-614. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 January 2006. doi:10.1136/jmg.2006.040790

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain
T Eggermann, N Schönherr, E Meyer, C Obermann, M Mavany, K Eggermann, M B Ranke, and H A Wollmann
J Med Genet 2006; 43: 615-616. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 October 2005. doi:10.1136/jmg.2005.038687

An empirical comparison of case-control and trio based study designs in high throughput association mapping
P Hintsanen, P Sevon, P Onkamo, L Eronen, and H Toivonen
J Med Genet 2006; 43: 617-624. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 28 October 2005. doi:10.1136/jmg.2005.036020

Electronic letters

No associations of human pulmonary tuberculosis with Sp110 variants
T Thye, E N Browne, M A Chinbuah, J Gyapong, I Osei, E Owusu-Dabo, S Niemann, S Rüsch-Gerdes, R D Horstmann, and C G Meyer
J Med Genet 2006; 43: e32. doi:10.1136/jmg.2005.037960 [Abstract] [Full text] [PDF] [Request Permissions]

AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3
Q J Wang, Q Z Li, S Q Rao, K Lee, X S Huang, W Y Yang, S Q Zhai, W W Guo, Y F Guo, N Yu, Y L Zhao, H Yuan, J Guan, S M Leal, D Y Han, and Y Shen
J Med Genet 2006; 43: e33. doi:10.1136/jmg.2005.037929 [Abstract] [Full text] [PDF] [Request Permissions]

CHEK2 I157T associates with familial and sporadic colorectal cancer
O Kilpivaara, P Alhopuro, P Vahteristo, L A Aaltonen, and H Nevanlinna
J Med Genet 2006; 43: e34. doi:10.1136/jmg.2005.038331 [Abstract] [Full text] [PDF] [Request Permissions]

A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3
A S Brooks, P A Leegwater, G M Burzynski, P J Willems, B de Graaf, I van Langen, P Heutink, B A Oostra, R M W Hofstra, and A M Bertoli-Avella
J Med Genet 2006; 43: e35. doi:10.1136/jmg.2005.038125 [Abstract] [Full text] [PDF] [Request Permissions]

Total absence of the ${alpha}$ 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, and A De Paepe
J Med Genet 2006; 43: e36. doi:10.1136/jmg.2005.038224 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome
R J Richardson, S Joss, S Tomkin, M Ahmed, E Sheridan, and M J Dixon
J Med Genet 2006; 43: e37. doi:10.1136/jmg.2005.037655 [Abstract] [Full text] [PDF] [Request Permissions]

The 13042G $->$ A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
M L Valentino, P Barboni, C Rengo, A Achilli, A Torroni, R Lodi, C Tonon, B Barbiroli, F Fortuna, P Montagna, A Baruzzi, and V Carelli
J Med Genet 2006; 43: e38. doi:10.1136/jmg.2005.037507 [Abstract] [Full text] [PDF] [Request Permissions]

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	Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology C Shaw-Smith J Med Genet 2006; 43: 545-554. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 18 November 2005. doi:10.1136/jmg.2005.038158

	Advances in genetics: what are the benefits for patients? A Munnich J Med Genet 2006; 43: 555-556. [Extract] [Full text] [PDF] [Request Permissions] Published Online First: 9 December 2005. doi:10.1136/jmg.2005.039966

	*The sepiapterin reductase gene region reveals association in the PARK3* locus: analysis of familial and sporadic Parkinson’s disease in European populations** M Sharma, J C Mueller, A Zimprich, P Lichtner, A Hofer, P Leitner, S Maass, D Berg, A Dürr, V Bonifati, G De Michele, B Oostra, A Brice, N W Wood, B Muller-Myhsok, T Gasser, European Consortium on Genetic Susceptibility in Parkinson’s Disease (GSPD) J Med Genet 2006; 43: 557-562. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 January 2006. doi:10.1136/jmg.2005.039149

	Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes M L Hamshere, N M Williams, N Norton, H Williams, A G Cardno, S Zammit, L A Jones, K C Murphy, R D Sanders, G McCarthy, M Y Gray, G Jones, P Holmans, M C O’Donovan, M J Owen, and N Craddock J Med Genet 2006; 43: 563-567. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 October 2005. doi:10.1136/jmg.2005.035345

	Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience Z A Bhuiyan, M Klein, P Hammond, A van Haeringen, M M A M Mannens, I Van Berckelaer-Onnes, and R C M Hennekam J Med Genet 2006; 43: 568-575. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 October 2005. doi:10.1136/jmg.2005.038240

	OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele R Varga, M R Avenarius, P M Kelley, B J Keats, C I Berlin, L J Hood, T G Morlet, S M Brashears, A Starr, E S Cohn, R J H Smith, and W J Kimberling J Med Genet 2006; 43: 576-581. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 21 December 2005. doi:10.1136/jmg.2005.038612

	*Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)* M A Abrera-Abeleda, C Nishimura, J L H Smith, S Sethi, J L McRae, B F Murphy, G Silvestri, C Skerka, M Józsi, P F Zipfel, G S Hageman, and R J H Smith J Med Genet 2006; 43: 582-589. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 18 November 2005. doi:10.1136/jmg.2005.038315

	Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes E Salmela, O Taskinen, J K Seppänen, P Sistonen, M J Daly, P Lahermo, M-L Savontaus, and J Kere J Med Genet 2006; 43: 590-597. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 January 2006. doi:10.1136/jmg.2005.038414

	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts J W Park, J Cai, I McIntosh, E W Jabs, M D Fallin, R Ingersoll, J B Hetmanski, M Vekemans, T Attie-Bitach, M Lovett, A F Scott, and T H Beaty J Med Genet 2006; 43: 598-608. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 13 January 2006. doi:10.1136/jmg.2005.040162

	Phenotype of triploid embryos D E McFadden and W P Robinson J Med Genet 2006; 43: 609-612. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 October 2005. doi:10.1136/jmg.2005.037747

	Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? K T Barker, W D Foulkes, C E Schwartz, C Labadie, F Monsell, R S Houlston, and J Harper J Med Genet 2006; 43: 613-614. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 27 January 2006. doi:10.1136/jmg.2006.040790

	Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain T Eggermann, N Schönherr, E Meyer, C Obermann, M Mavany, K Eggermann, M B Ranke, and H A Wollmann J Med Genet 2006; 43: 615-616. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 October 2005. doi:10.1136/jmg.2005.038687

	An empirical comparison of case-control and trio based study designs in high throughput association mapping P Hintsanen, P Sevon, P Onkamo, L Eronen, and H Toivonen J Med Genet 2006; 43: 617-624. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 28 October 2005. doi:10.1136/jmg.2005.036020

	*No associations of human pulmonary tuberculosis with Sp110* variants** T Thye, E N Browne, M A Chinbuah, J Gyapong, I Osei, E Owusu-Dabo, S Niemann, S Rüsch-Gerdes, R D Horstmann, and C G Meyer J Med Genet 2006; 43: e32. doi:10.1136/jmg.2005.037960 [Abstract] [Full text] [PDF] [Request Permissions]

	AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3 Q J Wang, Q Z Li, S Q Rao, K Lee, X S Huang, W Y Yang, S Q Zhai, W W Guo, Y F Guo, N Yu, Y L Zhao, H Yuan, J Guan, S M Leal, D Y Han, and Y Shen J Med Genet 2006; 43: e33. doi:10.1136/jmg.2005.037929 [Abstract] [Full text] [PDF] [Request Permissions]

	CHEK2 I157T associates with familial and sporadic colorectal cancer O Kilpivaara, P Alhopuro, P Vahteristo, L A Aaltonen, and H Nevanlinna J Med Genet 2006; 43: e34. doi:10.1136/jmg.2005.038331 [Abstract] [Full text] [PDF] [Request Permissions]

	A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3 A S Brooks, P A Leegwater, G M Burzynski, P J Willems, B de Graaf, I van Langen, P Heutink, B A Oostra, R M W Hofstra, and A M Bertoli-Avella J Med Genet 2006; 43: e35. doi:10.1136/jmg.2005.038125 [Abstract] [Full text] [PDF] [Request Permissions]

	Total absence of the ${alpha}$ 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, and A De Paepe J Med Genet 2006; 43: e36. doi:10.1136/jmg.2005.038224 [Abstract] [Full text] [PDF] [Request Permissions]

	A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome R J Richardson, S Joss, S Tomkin, M Ahmed, E Sheridan, and M J Dixon J Med Genet 2006; 43: e37. doi:10.1136/jmg.2005.037655 [Abstract] [Full text] [PDF] [Request Permissions]

	The 13042G $->$ A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype M L Valentino, P Barboni, C Rengo, A Achilli, A Torroni, R Lodi, C Tonon, B Barbiroli, F Fortuna, P Montagna, A Baruzzi, and V Carelli J Med Genet 2006; 43: e38. doi:10.1136/jmg.2005.037507 [Abstract] [Full text] [PDF] [Request Permissions]