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April 2008 (Volume 45, Number 4). [Index by author]

		Original articles Letters to JMG PostScript

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

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Original articles

The genetic aetiology of Silver–Russell syndrome
S Abu-Amero, D Monk, J Frost, M Preece, P Stanier, and G E Moore
J Med Genet 2008; 45: 193-199. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 21 December 2007. doi:10.1136/jmg.2007.053017

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
M Witsch-Baumgartner, I Schwentner, M Gruber, P Benlian, J Bertranpetit, E Bieth, F Chevy, N Clusellas, X Estivill, G Gasparini, M Giros, R I Kelley, M Krajewska-Walasek, J Menzel, T Miettinen, M Ogorelkova, M Rossi, I Scala, A Schinzel, K Schmidt, D Schönitzer, E Seemanova, K Sperling, M Syrrou, P J Talmud, B Wollnik, M Krawczak, D Labuda, and G Utermann
J Med Genet 2008; 45: 200-209. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 October 2007. doi:10.1136/jmg.2007.053520

Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population
Y Yang, M Ma, L Li, W Zhang, C Xiao, S Li, Y Ma, D Tao, Y Liu, L Lin, and S Zhang
J Med Genet 2008; 45: 210-215. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 21 December 2007. doi:10.1136/jmg.2007.054478

Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population
Y Yamada, K Kato, M Oguri, T Fujimaki, K Yokoi, H Matsuo, S Watanabe, N Metoki, H Yoshida, K Satoh, S Ichihara, Y Aoyagi, A Yasunaga, H Park, M Tanaka, and Y Nozawa
J Med Genet 2008; 45: 216-221. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]
Published Online First: 12 December 2007. doi:10.1136/jmg.2007.054387

Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association
L L E Koskinen, I R Korponay-Szabo, K Viiri, K Juuti-Uusitalo, K Kaukinen, K Lindfors, K Mustalahti, K Kurppa, R Ádány, Z Pocsai, G Széles, E Einarsdottir, C Wijmenga, M Mäki, J Partanen, J Kere, and P Saavalainen
J Med Genet 2008; 45: 222-227. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 12 December 2007. doi:10.1136/jmg.2007.053991

Genomic imbalances associated with müllerian aplasia
C Cheroki, A C V Krepischi-Santos, K Szuhai, V Brenner, C A E Kim, P A Otto, and C Rosenberg
J Med Genet 2008; 45: 228-232. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 November 2007. doi:10.1136/jmg.2007.051839

Letters to JMG

Molecular characterisation of a common SDHB deletion in paraganglioma patients
A Cascón, Í Landa, E López-Jiménez, A Díez-Hernández, M Buchta, C Montero-Conde, S Leskelä, L J Leandro-García, R Letón, C Rodríguez-Antona, C Eng, H P H Neumann, and M Robledo
J Med Genet 2008; 45: 233-238. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 December 2007. doi:10.1136/jmg.2007.054965

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 ${alpha}$
F R Zahir, A Baross, A D Delaney, P Eydoux, N D Fernandes, T Pugh, M A Marra, and J M Friedman
J Med Genet 2008; 45: 239-243. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 December 2007. doi:10.1136/jmg.2007.054437

${alpha}$ 7 Nicotinic acetylcholine receptor gene and reduced risk of Alzheimer’s disease
R Carson, D Craig, B McGuinness, J A Johnston, F A O’Neill, A P Passmore, and C W Ritchie
J Med Genet 2008; 45: 244-248. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 5 December 2007. doi:10.1136/jmg.2007.052704

Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
C M Armour and J E Allanson
J Med Genet 2008; 45: 249-254. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 26 November 2007. doi:10.1136/jmg.2007.054460

PostScript

Low-frequency protamine 1 gene transversions c.102G $->$ T and c.–107G $->$ C do not correlate with male infertility.
E Kichine, S Msaidie, A D Bokilo, A Ducourneau, A Navarro, N Levy, P Terriou, P Collignon, G Boetsch, J Chiaroni, and M J Mitchell
J Med Genet 2008; 45: 255-256. [Extract] [Full text] [PDF] [Request Permissions]

Correction
J Med Genet 2008; 45: 256. [Extract] [Full text] [PDF] [Request Permissions]

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	The genetic aetiology of Silver–Russell syndrome S Abu-Amero, D Monk, J Frost, M Preece, P Stanier, and G E Moore J Med Genet 2008; 45: 193-199. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 21 December 2007. doi:10.1136/jmg.2007.053017

	Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations M Witsch-Baumgartner, I Schwentner, M Gruber, P Benlian, J Bertranpetit, E Bieth, F Chevy, N Clusellas, X Estivill, G Gasparini, M Giros, R I Kelley, M Krajewska-Walasek, J Menzel, T Miettinen, M Ogorelkova, M Rossi, I Scala, A Schinzel, K Schmidt, D Schönitzer, E Seemanova, K Sperling, M Syrrou, P J Talmud, B Wollnik, M Krawczak, D Labuda, and G Utermann J Med Genet 2008; 45: 200-209. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 October 2007. doi:10.1136/jmg.2007.053520

	Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population Y Yang, M Ma, L Li, W Zhang, C Xiao, S Li, Y Ma, D Tao, Y Liu, L Lin, and S Zhang J Med Genet 2008; 45: 210-215. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 21 December 2007. doi:10.1136/jmg.2007.054478

	Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population Y Yamada, K Kato, M Oguri, T Fujimaki, K Yokoi, H Matsuo, S Watanabe, N Metoki, H Yoshida, K Satoh, S Ichihara, Y Aoyagi, A Yasunaga, H Park, M Tanaka, and Y Nozawa J Med Genet 2008; 45: 216-221. [Abstract] [Full text] [web only table] [PDF] [Request Permissions] Published Online First: 12 December 2007. doi:10.1136/jmg.2007.054387

	Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association L L E Koskinen, I R Korponay-Szabo, K Viiri, K Juuti-Uusitalo, K Kaukinen, K Lindfors, K Mustalahti, K Kurppa, R Ádány, Z Pocsai, G Széles, E Einarsdottir, C Wijmenga, M Mäki, J Partanen, J Kere, and P Saavalainen J Med Genet 2008; 45: 222-227. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 12 December 2007. doi:10.1136/jmg.2007.053991

	Genomic imbalances associated with müllerian aplasia C Cheroki, A C V Krepischi-Santos, K Szuhai, V Brenner, C A E Kim, P A Otto, and C Rosenberg J Med Genet 2008; 45: 228-232. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 November 2007. doi:10.1136/jmg.2007.051839

	*Molecular characterisation of a common SDHB* deletion in paraganglioma patients** A Cascón, Í Landa, E López-Jiménez, A Díez-Hernández, M Buchta, C Montero-Conde, S Leskelä, L J Leandro-García, R Letón, C Rodríguez-Antona, C Eng, H P H Neumann, and M Robledo J Med Genet 2008; 45: 233-238. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 December 2007. doi:10.1136/jmg.2007.054965

	A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 ${alpha}$ F R Zahir, A Baross, A D Delaney, P Eydoux, N D Fernandes, T Pugh, M A Marra, and J M Friedman J Med Genet 2008; 45: 239-243. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 December 2007. doi:10.1136/jmg.2007.054437

	${alpha}$ 7 Nicotinic acetylcholine receptor gene and reduced risk of Alzheimer’s disease R Carson, D Craig, B McGuinness, J A Johnston, F A O’Neill, A P Passmore, and C W Ritchie J Med Genet 2008; 45: 244-248. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 5 December 2007. doi:10.1136/jmg.2007.052704

	Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations C M Armour and J E Allanson J Med Genet 2008; 45: 249-254. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 26 November 2007. doi:10.1136/jmg.2007.054460

	*Low-frequency protamine 1* gene transversions c.102G $->$ T and c.–107G $->$ C do not correlate with male infertility.** E Kichine, S Msaidie, A D Bokilo, A Ducourneau, A Navarro, N Levy, P Terriou, P Collignon, G Boetsch, J Chiaroni, and M J Mitchell J Med Genet 2008; 45: 255-256. [Extract] [Full text] [PDF] [Request Permissions]

	Correction J Med Genet 2008; 45: 256. [Extract] [Full text] [PDF] [Request Permissions]