Molecular genetics

Contributing journals to this collection:
BMJ, , Molecular Pathology, British Journal of Ophthalmology, Tobacco Control, Postgraduate Medical Journal, Injury Prevention, Practical Neurology, Heart, Archives of Disease in Childhood - Education and Practice, BMJ Case Reports, Annals of the Rheumatic Diseases, Drug and Therapeutics Bulletin, Evidence-Based Medicine, Archives of Disease in Childhood - Fetal and Neonatal Edition, Journal of Epidemiology and Community Health, Journal of Neurology, Neurosurgery, and Psychiatry, Journal of Medical Genetics, Journal of NeuroInterventional Surgery, Journal of Medical Ethics, Quality and Safety in Health Care, Emergency Medicine Journal, Evidence-Based Mental Health, EULAR Meeting Abstracts, Archives of Disease in Childhood, Gut, Medical Humanities, Thorax, Occupational and Environmental Medicine, Heart Asia, Evidence-Based Nursing, British Journal of Sports Medicine, and Sexually Transmitted Infections

Citations 1-10 of 1761 total displayed.

News
Doctors call for greater transparency over limits of genetic tests

Jacqui Wise
BMJ 2009 339: b4950 ; published online before print as 10.1136/bmj.b4950 [Full text] [Request Permissions]  

Review
Encephalocraniocutaneous lipomatosis

U Moog
J. Med. Genet. 2009 46: 721 -729; published online before print as 10.1136/jmg.2009.066068 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1

U Hüffmeier, J Lascorz, T Becker, F Schürmeier-Horst, A Magener, A B Ekici, S Endele, C T Thiel, S Thoma-Uszynski, R Mössner, K Reich, W Kurrat, T F Wienker, H Traupe, A Reis
J. Med. Genet. 2009 46: 736 -744; published online before print as 10.1136/jmg.2008.065029 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting

D Ramsoekh, M E van Leerdam, A Wagner, E J Kuipers, E W Steyerberg
J. Med. Genet. 2009 46: 745 -751; published online before print as 10.1136/jmg.2009.066589 [Abstract] [Full text] [PDF] [Request Permissions]  

Letter to JMG
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

C Thauvin-Robinet, A Munck, F Huet, E Génin, G Bellis, E Gautier, M-P Audrézet, C Férec, G Lalau, M Des Georges, M Claustres, T Bienvenu, B Gérard, P Boisseau, F Cabet-Bey, D Feldmann, C Clavel, E Bieth, A Iron, B Simon-Bouy, C Costa, R Medina, J Leclerc, D Hubert, R Nové-Josserand, I Sermet-Gaudelus, G Rault, J Flori, S Leroy, N Wizla, G Bellon, A Haloun, S Perez-Martin, G d’Acremont, H Corvol, A Clément, E Houssin, C Binquet, C Bonithon-Kopp, C Alberti-Boulmé, M A Morris, L Faivre, M Goossens, M Roussey, the Collaborating Working Group on R117H and E Girodon
J. Med. Genet. 2009 46: 752 -758; published online before print as 10.1136/jmg.2009.067215 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Deregulation of EIF4E: a novel mechanism for autism

M Neves-Pereira, B Müller, D Massie, J H G Williams, P C M O’Brien, A Hughes, S-B Shen, David St Clair, Z Miedzybrodzka
J. Med. Genet. 2009 46: 759 -765; published online before print as 10.1136/jmg.2009.066852 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

V Marcel, E I Palmero, P Falagan-Lotsch, G Martel-Planche, P Ashton-Prolla, M Olivier, R R Brentani, P Hainaut, M I Achatz
J. Med. Genet. 2009 46: 766 -772; published online before print as 10.1136/jmg.2009.066704 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis

A Pyle, I M Ibbett, C Gordon, S M Keers, M Walker, P F Chinnery, S V Baudouin
J. Med. Genet. 2009 46: 773 -775; published online before print as 10.1136/jmg.2009.067173 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

R W Labrum, S Rajakulendran, T D Graves, L H Eunson, R Bevan, M G Sweeney, S R Hammans, N Tubridy, T Britton, L J Carr, J R Ostergaard, C R Kennedy, A Al-Memar, D M Kullmann, S Schorge, K Temple, M B Davis, M G Hanna
J. Med. Genet. 2009 46: 786 -791; published online before print as 10.1136/jmg.2009.067967 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Leading articles
With new prenatal testing, will babies with Down syndrome slowly disappear?

Brian G Skotko
Arch. Dis. Child. 2009 94: 823 -826; published online before print as 10.1136/adc.2009.166017 [Extract] [Full text] [PDF] [Request Permissions]