J Med Genet -- Table of Contents (44 [6])

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June 2007 (Volume 44, Number 6). [Index by author]

		Reviews Original articles Letters to JMG Miscellaneous Correspondence Online mutation reports

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

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Reviews

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
H F A Vasen, G Möslein, A Alonso, I Bernstein, L Bertario, I Blanco, J Burn, G Capella, C Engel, I Frayling, W Friedl, F J Hes, S Hodgson, J-P Mecklin, P Møller, F Nagengast, Y Parc, L Renkonen-Sinisalo, J R Sampson, A Stormorken, and J Wijnen
J Med Genet 2007; 44: 353-362. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 27 February 2007. doi:10.1136/jmg.2007.048991

Original articles

Environmental influence on the worldwide prevalence of a 776C $->$ G variant in the transcobalamin gene (TCN2)
Jean-Louis Guéant, Nicodème W Chabi, Rosa-Maria Guéant-Rodriguez, Osvaldo M Mutchinick, Renée Debard, Corinne Payet, Xiaohong Lu, Christian Villaume, Jean-Pierre Bronowicki, Edward V Quadros, Ambaliou Sanni, Emile Amouzou, Bing Xia, Min Chen, Guido Anello, Paolo Bosco, Corrado Romano, Heidy R Arrieta, Beatríz E Sánchez, Antonino Romano, Bernard Herbeth, Wafaa Anwar, and Fares Namour
J Med Genet 2007; 44: 363-367. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.048041

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
Peter J Taylor, Sarah Maroulis, Glenda L Mullan, Robyn L Pedersen, Aurora Baumli, George Elakis, Sara Piras, Corrina Walsh, Benito Prósper-Gutiérrez, Fernando De La Puente-Alonso, Christopher G Bell, David R Mowat, Heather M Johnston, and Michael F Buckley
J Med Genet 2007; 44: 368-372. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions]
Published Online First: 26 January 2007. doi:10.1136/jmg.2006.047464

Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation
Sanjay M Sisodiya, Pamela J Thompson, Anna Need, Sarah E Harris, Michael E Weale, Susan E Wilkie, Michel Michaelides, Samantha L Free, Nicole Walley, Curtis Gumbs, Dianne Gerrelli, Piers Ruddle, Lawrence J Whalley, John M Starr, David M Hunt, David B Goldstein, Ian J Deary, and Anthony T Moore
J Med Genet 2007; 44: 373-380. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 19 January 2007. doi:10.1136/jmg.2006.047407

Letters to JMG

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
Linda P Jakobsen, Reinhard Ullmann, Steen B Christensen, Karl Erik Jensen, Kirsten Mølsted, Karen F Henriksen, Claus Hansen, Mary A Knudsen, Lars A Larsen, Niels Tommerup, and Zeynep Tümer
J Med Genet 2007; 44: 381-386. doi:10.1136/jmg.2006.046177 [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]

Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA
Marcella Martinelli, Mariateresa Di Stazio, Luca Scapoli, Jlenia Marchesini, Filomena Di Bari, Furio Pezzetti, Francesco Carinci, Annalisa Palmieri, Paolo Carinci, and Anna Savoia
J Med Genet 2007; 44: 387-392. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 2 March 2007. doi:10.1136/jmg.2006.047837

Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
Constanze Uschkereit, Noelia Perez, Carmen de Torres, Maike Küff, Jaume Mora, and Brigitte Royer-Pokora
J Med Genet 2007; 44: 393-396. doi:10.1136/jmg.2006.047530 [Abstract] [Full text] [PDF] [Request Permissions]

A hexanucleotide repeat upstream of eotaxin gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels
Jyotsna Batra, Reenu Rajpoot, Jasmine Ahluwalia, Satish K Devarapu, Surendra K Sharma, Amit K Dinda, and Balaram Ghosh
J Med Genet 2007; 44: 397-403. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046607

Should healthcare providers have a duty to warn family members of individuals with an HNPCC-causing mutation? A survey of patients from the Ontario Familial Colon Cancer Registry
Kelly Kohut, Michael Manno, Steven Gallinger, and Mary Jane Esplen
J Med Genet 2007; 44: 404-407. doi:10.1136/jmg.2006.047357 [Abstract] [Full text] [PDF] [Request Permissions]

Integrin ß3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk
Anna Jakubowska, Jacek Gronwald, Janusz Menkiszak, Bohdan Górski, Tomasz Huzarski, Tomasz Byrski, Lutz Edler, Jan Lubinski, Rodney J Scott, and Ute Hamann
J Med Genet 2007; 44: 408-411. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 12 January 2007. doi:10.1136/jmg.2006.047498

Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings
Donatella Colaizzo, Lucio Amitrano, Luigi Iannaccone, Patrizia Vergura, Filomena Cappucci, Elvira Grandone, Maria Anna Guardascione, and Maurizio Margaglione
J Med Genet 2007; 44: 412-416. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 16 February 2007. doi:10.1136/jmg.2006.048371

Miscellaneous

CORRECTION
J Med Genet 2007; 44: 407. doi:10.1136/jmg.2007.044644corr1 [Extract] [Full text] [PDF] [Request Permissions]

Correspondence

Phenocopies in families seen by cancer geneticists
P Sasieni
J Med Genet 2007; 44: e82. doi:10.1136/jmg.2006.047597 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls
P F Chinnery, C Mowbray, S K Patel, J L Elson, M Sampson, G A Hitman, M I McCarthy, A T Hattersley, and M Walker
J Med Genet 2007; 44: e80. doi:10.1136/jmg.2007.048876 [Abstract] [Full text] [PDF] [Request Permissions]

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
Miriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, and Klaus Zerres
J Med Genet 2007; 44: e81. doi:10.1136/jmg.2007.049122 [Abstract] [Full text] [PDF] [Request Permissions]

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	*Environmental influence on the worldwide prevalence of a 776C $->$ G variant in the transcobalamin gene (TCN2)* Jean-Louis Guéant, Nicodème W Chabi, Rosa-Maria Guéant-Rodriguez, Osvaldo M Mutchinick, Renée Debard, Corinne Payet, Xiaohong Lu, Christian Villaume, Jean-Pierre Bronowicki, Edward V Quadros, Ambaliou Sanni, Emile Amouzou, Bing Xia, Min Chen, Guido Anello, Paolo Bosco, Corrado Romano, Heidy R Arrieta, Beatríz E Sánchez, Antonino Romano, Bernard Herbeth, Wafaa Anwar, and Fares Namour J Med Genet 2007; 44: 363-367. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 January 2007. doi:10.1136/jmg.2006.048041

	Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy Peter J Taylor, Sarah Maroulis, Glenda L Mullan, Robyn L Pedersen, Aurora Baumli, George Elakis, Sara Piras, Corrina Walsh, Benito Prósper-Gutiérrez, Fernando De La Puente-Alonso, Christopher G Bell, David R Mowat, Heather M Johnston, and Michael F Buckley J Med Genet 2007; 44: 368-372. [Abstract] [Full text] [web only tables] [PDF] [Request Permissions] Published Online First: 26 January 2007. doi:10.1136/jmg.2006.047464

	*Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1* mutation** Sanjay M Sisodiya, Pamela J Thompson, Anna Need, Sarah E Harris, Michael E Weale, Susan E Wilkie, Michel Michaelides, Samantha L Free, Nicole Walley, Curtis Gumbs, Dianne Gerrelli, Piers Ruddle, Lawrence J Whalley, John M Starr, David M Hunt, David B Goldstein, Ian J Deary, and Anthony T Moore J Med Genet 2007; 44: 373-380. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 19 January 2007. doi:10.1136/jmg.2006.047407

	Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 Linda P Jakobsen, Reinhard Ullmann, Steen B Christensen, Karl Erik Jensen, Kirsten Mølsted, Karen F Henriksen, Claus Hansen, Mary A Knudsen, Lars A Larsen, Niels Tommerup, and Zeynep Tümer J Med Genet 2007; 44: 381-386. doi:10.1136/jmg.2006.046177 [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]

	Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA Marcella Martinelli, Mariateresa Di Stazio, Luca Scapoli, Jlenia Marchesini, Filomena Di Bari, Furio Pezzetti, Francesco Carinci, Annalisa Palmieri, Paolo Carinci, and Anna Savoia J Med Genet 2007; 44: 387-392. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 2 March 2007. doi:10.1136/jmg.2006.047837

	*Different CTNNB1* mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation** Constanze Uschkereit, Noelia Perez, Carmen de Torres, Maike Küff, Jaume Mora, and Brigitte Royer-Pokora J Med Genet 2007; 44: 393-396. doi:10.1136/jmg.2006.047530 [Abstract] [Full text] [PDF] [Request Permissions]

	*A hexanucleotide repeat upstream of eotaxin* gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels** Jyotsna Batra, Reenu Rajpoot, Jasmine Ahluwalia, Satish K Devarapu, Surendra K Sharma, Amit K Dinda, and Balaram Ghosh J Med Genet 2007; 44: 397-403. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 12 January 2007. doi:10.1136/jmg.2006.046607

	Should healthcare providers have a duty to warn family members of individuals with an HNPCC-causing mutation? A survey of patients from the Ontario Familial Colon Cancer Registry Kelly Kohut, Michael Manno, Steven Gallinger, and Mary Jane Esplen J Med Genet 2007; 44: 404-407. doi:10.1136/jmg.2006.047357 [Abstract] [Full text] [PDF] [Request Permissions]

	*Integrin ß3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk* Anna Jakubowska, Jacek Gronwald, Janusz Menkiszak, Bohdan Górski, Tomasz Huzarski, Tomasz Byrski, Lutz Edler, Jan Lubinski, Rodney J Scott, and Ute Hamann J Med Genet 2007; 44: 408-411. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 12 January 2007. doi:10.1136/jmg.2006.047498

	Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings Donatella Colaizzo, Lucio Amitrano, Luigi Iannaccone, Patrizia Vergura, Filomena Cappucci, Elvira Grandone, Maria Anna Guardascione, and Maurizio Margaglione J Med Genet 2007; 44: 412-416. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 16 February 2007. doi:10.1136/jmg.2006.048371

	CORRECTION J Med Genet 2007; 44: 407. doi:10.1136/jmg.2007.044644corr1 [Extract] [Full text] [PDF] [Request Permissions]

	Phenocopies in families seen by cancer geneticists P Sasieni J Med Genet 2007; 44: e82. doi:10.1136/jmg.2006.047597 [Extract] [Full text] [PDF] [Request Permissions]

	Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls P F Chinnery, C Mowbray, S K Patel, J L Elson, M Sampson, G A Hitman, M I McCarthy, A T Hattersley, and M Walker J Med Genet 2007; 44: e80. doi:10.1136/jmg.2007.048876 [Abstract] [Full text] [PDF] [Request Permissions]

	*Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3* mutations in German siblings** Miriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, and Klaus Zerres J Med Genet 2007; 44: e81. doi:10.1136/jmg.2007.049122 [Abstract] [Full text] [PDF] [Request Permissions]