J Med Genet -- Table of Contents (45 [1])

Home > Volume 45, Number 1

Receive tables of contents (and more) by e-mail each issue: Subscribe to Customised @lerts

Other Issues:
January 2008 (Volume 45, Number 1). [Index by author]

		Review Original articles Short reports Letters to JMG Mutation reports PostScript

Find articles in this issue containing these words: [Search ALL Issues]

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

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.

Review

Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, and for the Hirschsprung Disease Consortium
J Med Genet 2008; 45: 1-14. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 October 2007. doi:10.1136/jmg.2007.053959

Original articles

Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
A Trizzino, U zur Stadt, I Ueda, K Risma, G Janka, E Ishii, K Beutel, J Sumegi, S Cannella, D Pende, A Mian, J-I Henter, G Griffiths, A Santoro, A Filipovich, M Aricò, and for the Histiocyte Society HLH Study group
J Med Genet 2008; 45: 15-21. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052670

Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people
Y Yamada, S Ichihara, K Kato, T Yoshida, K Yokoi, H Matsuo, S Watanabe, N Metoki, H Yoshida, K Satoh, Y Aoyagi, A Yasunaga, H Park, M Tanaka, W Lee, and Y Nozawa
J Med Genet 2008; 45: 22-28. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]
Published Online First: 31 August 2007. doi:10.1136/jmg.2007.052415

Short reports

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, and C Brahe
J Med Genet 2008; 45: 29-31. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051177

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
A Iwaki, Y Kawano, S Miura, H Shibata, D Matsuse, W Li, H Furuya, Y Ohyagi, T Taniwaki, J Kira, and Y Fukumaki
J Med Genet 2008; 45: 32-35. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 October 2007. doi:10.1136/jmg.2007.053942

Letters to JMG

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts
B L Browning, V Annese, M L Barclay, S A Bingham, S Brand, C Büning, M Castro, S Cucchiara, B Dallapiccola, H Drummond, L R Ferguson, A Ferraris, S A Fisher, R B Gearry, J Glas, L Henckaerts, C Huebner, D Knafelz, L Lakatos, P L Lakatos, A Latiano, X Liu, C Mathew, B Müller-Myhsok, W G Newman, E R Nimmo, C L Noble, O Palmieri, M Parkes, I Petermann, P Rutgeerts, J Satsangi, A N Shelling, K A Siminovitch, H-P Török, M Tremelling, S Vermeire, M R Valvano, and H Witt
J Med Genet 2008; 45: 36-42. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 10 August 2007. doi:10.1136/jmg.2007.050773

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls
S Lesage, E Lohmann, F Tison, F Durif, A Dürr, A Brice, and for the French Parkinson’s Disease Genetics Study Group
J Med Genet 2008; 45: 43-46. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 31 August 2007. doi:10.1136/jmg.2007.051854

Mutation reports

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans
F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, and B Tümmler
J Med Genet 2008; 45: 47-54. doi:10.1136/jmg.2007.053561 [Abstract] [Full text] [PDF] [Request Permissions]

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, M Zeviani, S DiMauro, S Seneca, J E Martindale, S E Olpin, E P Treacy, R McFarland, F M Santorelli, and R W Taylor
J Med Genet 2008; 45: 55-61. doi:10.1136/jmg.2007.051185 [Abstract] [Full text] [PDF] [Request Permissions]

PostScript

BRCA2: a cause of Li–Fraumeni-like syndrome
D G Evans, C L Wu, and J M Birch
J Med Genet 2008; 45: 62-63. doi:10.1136/jmg.2007.054494 [Extract] [Full text] [PDF] [Request Permissions]

Is CHEK2 a cause of the Li–Fraumeni syndrome?
D G Evans, J M Birch, and S A Narod
J Med Genet 2008; 45: 63-64. doi:10.1136/jmg.2007.054700 [Extract] [Full text] [PDF] [Request Permissions]

Correction
J Med Genet 2008; 45: 64. doi:10.1136/jmg.2007.050013corr1 [Extract] [Full text] [PDF] [Request Permissions]

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

	Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations A Trizzino, U zur Stadt, I Ueda, K Risma, G Janka, E Ishii, K Beutel, J Sumegi, S Cannella, D Pende, A Mian, J-I Henter, G Griffiths, A Santoro, A Filipovich, M Aricò, and for the Histiocyte Society HLH Study group J Med Genet 2008; 45: 15-21. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 14 September 2007. doi:10.1136/jmg.2007.052670

	Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people Y Yamada, S Ichihara, K Kato, T Yoshida, K Yokoi, H Matsuo, S Watanabe, N Metoki, H Yoshida, K Satoh, Y Aoyagi, A Yasunaga, H Park, M Tanaka, W Lee, and Y Nozawa J Med Genet 2008; 45: 22-28. [Abstract] [Full text] [web only table] [PDF] [Request Permissions] Published Online First: 31 August 2007. doi:10.1136/jmg.2007.052415

	Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, and C Brahe J Med Genet 2008; 45: 29-31. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 October 2007. doi:10.1136/jmg.2007.051177

	*Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16* A Iwaki, Y Kawano, S Miura, H Shibata, D Matsuse, W Li, H Furuya, Y Ohyagi, T Taniwaki, J Kira, and Y Fukumaki J Med Genet 2008; 45: 32-35. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 October 2007. doi:10.1136/jmg.2007.053942

	Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts B L Browning, V Annese, M L Barclay, S A Bingham, S Brand, C Büning, M Castro, S Cucchiara, B Dallapiccola, H Drummond, L R Ferguson, A Ferraris, S A Fisher, R B Gearry, J Glas, L Henckaerts, C Huebner, D Knafelz, L Lakatos, P L Lakatos, A Latiano, X Liu, C Mathew, B Müller-Myhsok, W G Newman, E R Nimmo, C L Noble, O Palmieri, M Parkes, I Petermann, P Rutgeerts, J Satsangi, A N Shelling, K A Siminovitch, H-P Török, M Tremelling, S Vermeire, M R Valvano, and H Witt J Med Genet 2008; 45: 36-42. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 10 August 2007. doi:10.1136/jmg.2007.050773

	*Rare heterozygous parkin* variants in French early-onset Parkinson disease patients and controls** S Lesage, E Lohmann, F Tison, F Durif, A Dürr, A Brice, and for the French Parkinson’s Disease Genetics Study Group J Med Genet 2008; 45: 43-46. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 31 August 2007. doi:10.1136/jmg.2007.051854

	*Diversity of the basic defect of homozygous CFTR* mutation genotypes in humans** F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, and B Tümmler J Med Genet 2008; 45: 47-54. doi:10.1136/jmg.2007.053561 [Abstract] [Full text] [PDF] [Request Permissions]

	Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations H A L Tuppen, F Fattori, R Carrozzo, M Zeviani, S DiMauro, S Seneca, J E Martindale, S E Olpin, E P Treacy, R McFarland, F M Santorelli, and R W Taylor J Med Genet 2008; 45: 55-61. doi:10.1136/jmg.2007.051185 [Abstract] [Full text] [PDF] [Request Permissions]

	BRCA2: a cause of Li–Fraumeni-like syndrome D G Evans, C L Wu, and J M Birch J Med Genet 2008; 45: 62-63. doi:10.1136/jmg.2007.054494 [Extract] [Full text] [PDF] [Request Permissions]

	*Is CHEK2* a cause of the Li–Fraumeni syndrome?** D G Evans, J M Birch, and S A Narod J Med Genet 2008; 45: 63-64. doi:10.1136/jmg.2007.054700 [Extract] [Full text] [PDF] [Request Permissions]

	Correction J Med Genet 2008; 45: 64. doi:10.1136/jmg.2007.050013corr1 [Extract] [Full text] [PDF] [Request Permissions]

Register for free content

Genetics jobs