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 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 1464 total displayed.

Ethics briefings
Ethics briefings

S Brannan, V English, R Mussell, J Sheather, A Sommerville, 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, 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, Mary Sheppard
BMJ Case Reports 2009; 2009: bcr0420091740. [Abstract] [Full text] [Request Permissions]  

case-report
Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

C Orellana, J Bernabeu, S Monfort, M Roselló, S Oltra, I Ferrer, R Quiroga, I Martínez-Garay, F Martínez
BMJ Case Reports 2009; 2009: bcr0620091996. [Abstract] [Full text] [Request Permissions]  

case-report
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, E H Sherr
BMJ Case Reports 2009; 2009: bcr0620091999. [Abstract] [Full text] [Request Permissions]  

Short report
Bannayan–Riley–Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay

N E Lynch, S A Lynch, J McMenamin, D Webb
Arch. Dis. Child. 2009 94: 553 -554; published online before print as 10.1136/adc.2008.155663 [Abstract] [Full text] [PDF] [Request Permissions]  

case-report
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature

M Carlson, M Silberbach
BMJ Case Reports 2009; 2009: bcr0620091998. [Abstract] [Full text] [Request Permissions]  

case-report
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay
BMJ Case Reports 2009; 2009: bcr0620091997. [Abstract] [Full text] [Request Permissions]  

case-report
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract

Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, Chitra Kannabiran
BMJ Case Reports 2009; 2009: bcr0620091995. [Abstract] [Full text] [Request Permissions]  

case-report
The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, Joris R Vermeesch
BMJ Case Reports 2009; 2009: bcr0620091994. [Abstract] [Full text] [Request Permissions]