Genetic screening / counselling

Contributing journals to this collection:
BMJ, , Molecular Pathology, Journal of Clinical 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, Occupational and Environmental Medicine, Heart Asia, Evidence-Based Nursing, British Journal of Sports Medicine, and Sexually Transmitted Infections

Citations 1-10 of 2019 total displayed.

Original articles
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

D Furniss, S-h Kan, I B Taylor, D Johnson, P S Critchley, H P Giele, and A O M Wilkie
J. Med. Genet. 2009 46: 730 -735; published online before print as 10.1136/jmg.2009.066027 [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, and 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 ]  

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, and 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]  

Original articles
Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families

J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, and Y Shen
J. Med. Genet. 2009 46: 657 -662; published online before print as 10.1136/jmg.2009.066456 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, and F Hildebrandt
J. Med. Genet. 2009 46: 663 -670; published online before print as 10.1136/jmg.2009.066613 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Letters to JMG
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy

Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, and C R Andres
J. Med. Genet. 2009 46: 711 -715; published online before print as 10.1136/jmg.2009.067397 [Abstract] [Full text] [PDF] [Request Permissions]  

Ethics briefings
Ethics briefings

S Brannan, V English, R Mussell, J Sheather, A Sommerville, and E Chrispin
J. Med. Ethics 2009; 35: 587-588. [Extract] [Full text] [PDF] [Request Permissions]  

case-report
Meningomyelocele: the tip of the iceberg

Sweety Shinde and Shikha Singhal
BMJ Case Reports 2009; 2009: bcr0420091811. [Abstract] [Full text] [Request Permissions]  

case-report
Undiagnosed coarctation of the aorta as a cause of aortic dissection in the young

Sarah Saunders, Dean Harmse, and Mary Sheppard
BMJ Case Reports 2009; 2009: bcr0420091740. [Abstract] [Full text] [Request Permissions]  

Original articles
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

M Tyreman, K M Abbott, L R Willatt, R Nash, C Lees, J Whittaker, and I Simonic
J. Med. Genet. 2009 46: 531 -541; published online before print as 10.1136/jmg.2008.065482 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]