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August 2008 (Volume 45, Number 8). [Index by author]

		Review Commentaries Original articles Letters to JMG PostScript

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Review

Double outlet right ventricle: aetiologies and associations
D Obler, A L Juraszek, L B Smoot, and M R Natowicz
J Med Genet 2008; 45: 481-497. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057984

Commentaries

The fragile X prevalence paradox
Paul J Hagerman
J Med Genet 2008; 45: 498-499. [Extract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 April 2008. doi:10.1136/jmg.2008.059055

Original articles

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
A-M Nyström, S Ekvall, E Berglund, M Björkqvist, G Braathen, K Duchen, H Enell, E Holmberg, U Holmlund, M Olsson-Engman, G Annerén, and M-L Bondeson
J Med Genet 2008; 45: 500-506. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057653

A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site
P Felderbauer, J Schnekenburger, R Lebert, K Bulut, M Parry, T Meister, V Schick, F Schmitz, W Domschke, and W E Schmidt
J Med Genet 2008; 45: 507-512. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 May 2008. doi:10.1136/jmg.2007.056481

A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations
J Bryant, K Cooper, J Picot, A Clegg, P Roderick, W Rosenberg, and C Patch
J Med Genet 2008; 45: 513-518. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 29 February 2008. doi:10.1136/jmg.2007.055806

X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
L Kent, J Emerton, V Bhadravathi, E Weisblatt, G Pasco, L R Willatt, R McMahon, and J R W Yates
J Med Genet 2008; 45: 519-524. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057729

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation
R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, and H J M Smeets
J Med Genet 2008; 45: 525-534. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057497

Letters to JMG

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families
G Bougeard, R Sesboüé, S Baert-Desurmont, S Vasseur, C Martin, J Tinat, L Brugières, A Chompret, B Bressac-de Paillerets, D Stoppa-Lyonnet, C Bonaïti-Pellié, T Frébourg, and the French LFS working group
J Med Genet 2008; 45: 535-538. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions]
Published Online First: 29 May 2008. doi:10.1136/jmg.2008.057570

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome
G de Alencastro, D E McCloskey, S E Kliemann, C M C Maranduba, A E Pegg, X Wang, D R Bertola, C E Schwartz, M R Passos-Bueno, and A L Sertié
J Med Genet 2008; 45: 539-543. [Abstract] [Full text] [PDF] [Request Permissions]
Published Online First: 11 June 2008. doi:10.1136/jmg.2007.056713

PostScript

The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf–Hirschhorn syndrome
M Zollino, M Murdolo, and G Neri
J Med Genet 2008; 45: 544. doi:10.1136/jmg.2008.058370 [Extract] [Full text] [PDF] [Request Permissions]

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	Double outlet right ventricle: aetiologies and associations D Obler, A L Juraszek, L B Smoot, and M R Natowicz J Med Genet 2008; 45: 481-497. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057984

	The fragile X prevalence paradox Paul J Hagerman J Med Genet 2008; 45: 498-499. [Extract] [Full text] [PDF] [Request Permissions] Published Online First: 15 April 2008. doi:10.1136/jmg.2008.059055

	Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders A-M Nyström, S Ekvall, E Berglund, M Björkqvist, G Braathen, K Duchen, H Enell, E Holmberg, U Holmlund, M Olsson-Engman, G Annerén, and M-L Bondeson J Med Genet 2008; 45: 500-506. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057653

	A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site P Felderbauer, J Schnekenburger, R Lebert, K Bulut, M Parry, T Meister, V Schick, F Schmitz, W Domschke, and W E Schmidt J Med Genet 2008; 45: 507-512. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 May 2008. doi:10.1136/jmg.2007.056481

	A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations J Bryant, K Cooper, J Picot, A Clegg, P Roderick, W Rosenberg, and C Patch J Med Genet 2008; 45: 513-518. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 29 February 2008. doi:10.1136/jmg.2007.055806

	X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits L Kent, J Emerton, V Bhadravathi, E Weisblatt, G Pasco, L R Willatt, R McMahon, and J R W Yates J Med Genet 2008; 45: 519-524. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 15 April 2008. doi:10.1136/jmg.2008.057729

	Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, and H J M Smeets J Med Genet 2008; 45: 525-534. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 2 May 2008. doi:10.1136/jmg.2008.057497

	Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families G Bougeard, R Sesboüé, S Baert-Desurmont, S Vasseur, C Martin, J Tinat, L Brugières, A Chompret, B Bressac-de Paillerets, D Stoppa-Lyonnet, C Bonaïti-Pellié, T Frébourg, and the French LFS working group J Med Genet 2008; 45: 535-538. [Abstract] [Full text] [web only appendix] [PDF] [Request Permissions] Published Online First: 29 May 2008. doi:10.1136/jmg.2008.057570

	*New SMS* mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder–Robinson X-linked recessive mental retardation syndrome** G de Alencastro, D E McCloskey, S E Kliemann, C M C Maranduba, A E Pegg, X Wang, D R Bertola, C E Schwartz, M R Passos-Bueno, and A L Sertié J Med Genet 2008; 45: 539-543. [Abstract] [Full text] [PDF] [Request Permissions] Published Online First: 11 June 2008. doi:10.1136/jmg.2007.056713

	The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf–Hirschhorn syndrome M Zollino, M Murdolo, and G Neri J Med Genet 2008; 45: 544. doi:10.1136/jmg.2008.058370 [Extract] [Full text] [PDF] [Request Permissions]

Register for free content

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