J Med Genet -- Table of Contents (45 [5])

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May 2008 (Volume 45, Number 5). [Index by author]

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Review

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies
M Adams, U M Smith, C V Logan, and C A Johnson
J Med Genet 2008; 45: 257-267. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.054999

Original articles

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform
E Aston, H Whitby, T Maxwell, N Glaus, B Cowley, D Lowry, X L Zhu, B Issa, S T South, and A R Brothman
J Med Genet 2008; 45: 268-274. [Abstract] [Full text] [web only table] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055319

Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3
G De Mars, A Windelinckx, W Huygens, M W Peeters, G P Beunen, J Aerssens, R Vlietinck, and M A I Thomis
J Med Genet 2008; 45: 275-283. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055277

CDKN2A mutations and melanoma risk in the Icelandic population
A M Goldstein, S N Stacey, J H Olafsson, G F Jonsson, A Helgason, P Sulem, B Sigurgeirsson, K R Benediktsdottir, K Thorisdottir, R Ragnarsson, J Kjartansson, J Kostic, G Masson, K Kristjansson, J R Gulcher, A Kong, U Thorsteinsdottir, T Rafnar, M A Tucker, and K Stefansson
J Med Genet 2008; 45: 284-289. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055376

Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery
E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, and S L Sherman
J Med Genet 2008; 45: 290-297. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 30 January 2008. doi:10.1136/jmg.2007.054676

Letters to JMG

CYLD mutations in familial skin appendage tumours
S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, and J T Celebi
J Med Genet 2008; 45: 298-302. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 30 January 2008. doi:10.1136/jmg.2007.056127

A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family
Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, and S Wang
J Med Genet 2008; 45: 303-308. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055343

Comparison of X-chromosome inactivation patterns in multiple tissues from human females
D C Bittel, M F Theodoro, N Kibiryeva, W Fischer, Z Talebizadeh, and M G Butler
J Med Genet 2008; 45: 309-313. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions]
Published Online First: 21 December 2007. doi:10.1136/jmg.2007.055244

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome
B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, and J W M Creemers
J Med Genet 2008; 45: 314-318. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 30 January 2008. doi:10.1136/jmg.2007.055475

PostScript

Response to Stenson et al on the review of general mutation databases
R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton
J Med Genet 2008; 45: 319-320. [Extract] [Full text] [PDF] [Request Permissions]

We need a detailed phenome in the phenomenon of genetics and congenital heart disease
M G Posch, F Berger, A Perrot, and C Özcelik
J Med Genet 2008; 45: 320. doi:10.1136/jmg.2007.057117 [Extract] [Full text] [PDF] [Request Permissions]

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	Recent advances in the molecular pathology, cell biology and genetics of ciliopathies M Adams, U M Smith, C V Logan, and C A Johnson J Med Genet 2008; 45: 257-267. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.054999

	Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform E Aston, H Whitby, T Maxwell, N Glaus, B Cowley, D Lowry, X L Zhu, B Issa, S T South, and A R Brothman J Med Genet 2008; 45: 268-274. [Abstract] [Full text] [web only table] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055319

	Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3 G De Mars, A Windelinckx, W Huygens, M W Peeters, G P Beunen, J Aerssens, R Vlietinck, and M A I Thomis J Med Genet 2008; 45: 275-283. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055277

	CDKN2A mutations and melanoma risk in the Icelandic population A M Goldstein, S N Stacey, J H Olafsson, G F Jonsson, A Helgason, P Sulem, B Sigurgeirsson, K R Benediktsdottir, K Thorisdottir, R Ragnarsson, J Kjartansson, J Kostic, G Masson, K Kristjansson, J R Gulcher, A Kong, U Thorsteinsdottir, T Rafnar, M A Tucker, and K Stefansson J Med Genet 2008; 45: 284-289. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 4 January 2008. doi:10.1136/jmg.2007.055376

	Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery E G Allen, J Juncos, R Letz, M Rusin, D Hamilton, G Novak, L Shubeck, S W Tinker, and S L Sherman J Med Genet 2008; 45: 290-297. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 30 January 2008. doi:10.1136/jmg.2007.054676

	CYLD mutations in familial skin appendage tumours S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, and J T Celebi J Med Genet 2008; 45: 298-302. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 30 January 2008. doi:10.1136/jmg.2007.056127

	*A missense mutation in PTCH2* underlies dominantly inherited NBCCS in a Chinese family** Z Fan, J Li, J Du, H Zhang, Y Shen, C-Y Wang, and S Wang J Med Genet 2008; 45: 303-308. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 19 February 2008. doi:10.1136/jmg.2007.055343

	Comparison of X-chromosome inactivation patterns in multiple tissues from human females D C Bittel, M F Theodoro, N Kibiryeva, W Fischer, Z Talebizadeh, and M G Butler J Med Genet 2008; 45: 309-313. [Abstract] [Full text] [web only appendices] [PDF] [Request Permissions] Published Online First: 21 December 2007. doi:10.1136/jmg.2007.055244

	*Deletion of C2orf34, PREPL* and SLC3A1 causes atypical hypotonia–cystinuria syndrome** B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, and J W M Creemers J Med Genet 2008; 45: 314-318. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 30 January 2008. doi:10.1136/jmg.2007.055475

	*Response to Stenson et al* on the review of general mutation databases** R A George, T D Smith, S Callaghan, L Hardman, C Pierides, O Horaitis, M A Wouters, and R G H Cotton J Med Genet 2008; 45: 319-320. [Extract] [Full text] [PDF] [Request Permissions]

	*We need a detailed phenome in the phenomenon of genetics and congenital heart disease* M G Posch, F Berger, A Perrot, and C Özcelik J Med Genet 2008; 45: 320. doi:10.1136/jmg.2007.057117 [Extract] [Full text] [PDF] [Request Permissions]

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