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March 2007 (Volume 44, Number 3). [Index by author]

		Reviews Original articles 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

Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease
Albert K Luo, Brian K Jefferson, Mario J Garcia, Geoffrey S Ginsburg, and Eric J Topol
J Med Genet 2007; 44: 161-165. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 December 2006. doi:10.1136/jmg.2006.045732

Somatic mutations of the epidermal growth factor receptor and non-small-cell lung cancer
Xiaozhu Zhang and Alex Chang
J Med Genet 2007; 44: 166-172. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046102

Original articles

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, and Massimo Zeviani
J Med Genet 2007; 44: 173-180. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 October 2006. doi:10.1136/jmg.2006.045252

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
Roslyn Varki, Sara Sadowski, Jouni Uitto, and Ellen Pfendner
J Med Genet 2007; 44: 181-192. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 13 September 2006. doi:10.1136/jmg.2006.045302

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome
Aude Servais, Véronique Frémeaux-Bacchi, Moglie Lequintrec, Rémi Salomon, Jacques Blouin, Bertrand Knebelmann, Jean-Pierre Grünfeld, Philippe Lesavre, Laure-Hélène Noël, and Fadi Fakhouri
J Med Genet 2007; 44: 193-199. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 3 October 2006. doi:10.1136/jmg.2006.045328

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
Danuta Z Loesch, Quang M Bui, Richard M Huggins, Robert J Mitchell, Randi J Hagerman, and Flora Tassone
J Med Genet 2007; 44: 200-204. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 August 2006. doi:10.1136/jmg.2006.043950

Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
Barbara Arredi, Alberto Ferlin, Elena Speltra, Chiara Bedin, Daniela Zuccarello, Francesco Ganz, Eleonora Marchina, Liborio Stuppia, Csilla Krausz, and Carlo Foresta
J Med Genet 2007; 44: 205-208. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046433

Variants in mannose-binding lectin and tumour necrosis factor ${alpha}$ affect survival in cystic fibrosis
Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, and Garry R Cutting
J Med Genet 2007; 44: 209-214. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 December 2006. doi:10.1136/jmg.2006.046318

Letters to JMG

A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere
N S T Thomas, K Wiseman, G Spurlock, M MacDonald, D Üstek, and M Upadhyaya
J Med Genet 2007; 44: 215-218. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 20 September 2006. doi:10.1136/jmg.2006.042804

Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia
Enza Di Leo, Lucia Magnolo, Sandra Lancellotti, Lory Crocè, Luca Visintin, Claudio Tiribelli, Stefano Bertolini, Sebastiano Calandra, and Patrizia Tarugi
J Med Genet 2007; 44: 219-224. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046359

Electronic letters

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study
Oliver W J Quarrell, Alan S Rigby, L Barron, Y Crow, A Dalton, N Dennis, A E Fryer, F Heydon, E Kinning, A Lashwood, M Losekoot, L Margerison, S McDonnell, P J Morrison, A Norman, M Peterson, F L Raymond, S Simpson, E Thompson, and J Warner
J Med Genet 2007; 44: e68. doi:10.1136/jmg.2006.045120 [Abstract] [Full text] [PDF] [Request Permissions]

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia
Junko Kanno, Tim Hutchin, Fumiaki Kamada, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, and Shigeo Kure
J Med Genet 2007; 44: e69. doi:10.1136/jmg.2006.043448 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, and M Abitbol
J Med Genet 2007; 44: e70. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 7 February 2007. doi:10.1136/jmg.2006.044511

MYO7A mutation screening in Usher syndrome type I patients from diverse origins
T Jaijo, E Aller, M Beneyto, C Najera, C Graziano, D Turchetti, M Seri, C Ayuso, M Baiget, F Moreno, C Morera, H Perez-Garrigues, and J M Millan
J Med Genet 2007; 44: e71. doi:10.1136/jmg.2006.045377 [Extract] [Full text] [PDF] [Request Permissions]

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	Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease Albert K Luo, Brian K Jefferson, Mario J Garcia, Geoffrey S Ginsburg, and Eric J Topol J Med Genet 2007; 44: 161-165. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 December 2006. doi:10.1136/jmg.2006.045732

	Somatic mutations of the epidermal growth factor receptor and non-small-cell lung cancer Xiaozhu Zhang and Alex Chang J Med Genet 2007; 44: 166-172. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046102

	Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, and Massimo Zeviani J Med Genet 2007; 44: 173-180. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 October 2006. doi:10.1136/jmg.2006.045252

	Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes Roslyn Varki, Sara Sadowski, Jouni Uitto, and Ellen Pfendner J Med Genet 2007; 44: 181-192. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 13 September 2006. doi:10.1136/jmg.2006.045302

	Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome Aude Servais, Véronique Frémeaux-Bacchi, Moglie Lequintrec, Rémi Salomon, Jacques Blouin, Bertrand Knebelmann, Jean-Pierre Grünfeld, Philippe Lesavre, Laure-Hélène Noël, and Fadi Fakhouri J Med Genet 2007; 44: 193-199. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 3 October 2006. doi:10.1136/jmg.2006.045328

	Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats Danuta Z Loesch, Quang M Bui, Richard M Huggins, Robert J Mitchell, Randi J Hagerman, and Flora Tassone J Med Genet 2007; 44: 200-204. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 August 2006. doi:10.1136/jmg.2006.043950

	Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population Barbara Arredi, Alberto Ferlin, Elena Speltra, Chiara Bedin, Daniela Zuccarello, Francesco Ganz, Eleonora Marchina, Liborio Stuppia, Csilla Krausz, and Carlo Foresta J Med Genet 2007; 44: 205-208. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046433

	Variants in mannose-binding lectin and tumour necrosis factor ${alpha}$ affect survival in cystic fibrosis Kitti Buranawuti, Michael P Boyle, Suzanne Cheng, Lori L Steiner, Kathryn McDougal, M Daniele Fallin, Christian Merlo, Pamela L Zeitlin, Beryl J Rosenstein, Peter J Mogayzel, Jr, Xinjing Wang, and Garry R Cutting J Med Genet 2007; 44: 209-214. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 December 2006. doi:10.1136/jmg.2006.046318

	A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere N S T Thomas, K Wiseman, G Spurlock, M MacDonald, D Üstek, and M Upadhyaya J Med Genet 2007; 44: 215-218. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 20 September 2006. doi:10.1136/jmg.2006.042804

	Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia Enza Di Leo, Lucia Magnolo, Sandra Lancellotti, Lory Crocè, Luca Visintin, Claudio Tiribelli, Stefano Bertolini, Sebastiano Calandra, and Patrizia Tarugi J Med Genet 2007; 44: 219-224. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046359

	Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study Oliver W J Quarrell, Alan S Rigby, L Barron, Y Crow, A Dalton, N Dennis, A E Fryer, F Heydon, E Kinning, A Lashwood, M Losekoot, L Margerison, S McDonnell, P J Morrison, A Norman, M Peterson, F L Raymond, S Simpson, E Thompson, and J Warner J Med Genet 2007; 44: e68. doi:10.1136/jmg.2006.045120 [Abstract] [Full text] [PDF] [Request Permissions]

	*Genomic deletion within GLDC* is a major cause of non-ketotic hyperglycinaemia** Junko Kanno, Tim Hutchin, Fumiaki Kamada, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, and Shigeo Kure J Med Genet 2007; 44: e69. doi:10.1136/jmg.2006.043448 [Abstract] [Full text] [PDF] [Request Permissions]

	*New VMD2* gene mutations identified in patients affected by Best vitelliform macular dystrophy** D Marchant, K Yu, K Bigot, O Roche, A Germain, D Bonneau, V Drouin-Garraud, D F Schorderet, F Munier, D Schmidt, P Le Neindre, C Marsac, M Menasche, J L Dufier, R Fischmeister, C Hartzell, and M Abitbol J Med Genet 2007; 44: e70. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 7 February 2007. doi:10.1136/jmg.2006.044511

	MYO7A mutation screening in Usher syndrome type I patients from diverse origins T Jaijo, E Aller, M Beneyto, C Najera, C Graziano, D Turchetti, M Seri, C Ayuso, M Baiget, F Moreno, C Morera, H Perez-Garrigues, and J M Millan J Med Genet 2007; 44: e71. doi:10.1136/jmg.2006.045377 [Extract] [Full text] [PDF] [Request Permissions]