Genetic screening / counselling

Citations 1-10 of 21 total displayed.

Meningomyelocele: the tip of the iceberg

Sweety Shinde and Shikha Singhal
BMJ Case Reports doi: 10.1136/bcr.04.2009.1811 [Summary] [Full text] [Request Permissions]  

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

Sarah Saunders, Dean Harmse, and Mary Sheppard
BMJ Case Reports doi: 10.1136/bcr.04.2009.1740 [Summary] [Full text] [Request Permissions]  

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, and F Martínez
BMJ Case Reports doi: 10.1136/bcr.06.2009.1996 [Summary] [Full text] [Request Permissions]  

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, and E H Sherr
BMJ Case Reports doi: 10.1136/bcr.06.2009.1999 [Summary] [Full text] [Request Permissions]  

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

M Carlson and M Silberbach
BMJ Case Reports doi: 10.1136/bcr.06.2009.1998 [Summary] [Full text] [Request Permissions]  

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, and D J G Mackay
BMJ Case Reports doi: 10.1136/bcr.06.2009.1997 [Summary] [Full text] [Request Permissions]  

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

Surya Prakash G Ponnam, Kekunnaya Ramesha, Sushma Tejwani, Balasubramanya Ramamurthy, and Chitra Kannabiran
BMJ Case Reports doi: 10.1136/bcr.06.2009.1995 [Summary] [Full text] [Request Permissions]  

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, and Joris R Vermeesch
BMJ Case Reports doi: 10.1136/bcr.06.2009.1994 [Summary] [Full text] [Request Permissions]  

Acquired syndactyly in epidermolysis bullosa dystrophica

Inusha Panigrahi, Ketan Kulkarni, and Devi Dayal
BMJ Case Reports doi: 10.1136/bcr.04.2009.1785 [Extract] [Full text] [Request Permissions]  

Autism, language delay and mental retardation in a patient with 7q11 duplication

C Depienne, D Heron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, A Verloes, E LeGuern, M Leboyer, and A Brice
BMJ Case Reports doi: 10.1136/bcr.05.2009.1911 [Summary] [Full text] [Request Permissions]