Genetics

Citations 1-10 of 32 total displayed.

Coronary artery dissection in adult-onset homocystinuria

Brigitte Granel, Pascal Rossi, Laurent Bonello, Dominique Brunet, Fanny Bernard, and Yves Frances
BMJ Case Reports doi: 10.1136/bcr.06.2009.1990 [Summary] [Full text] [Request Permissions]  

A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau disease

Melpomeni Peppa, Smaragda Kamakari, Eleni Boutati, Panagiotis Nikolopoulos, Christoforos Giatzakis, Theofanis Economopoulos, Dimitrios Hadjidakis, and Sotirios A Raptis
BMJ Case Reports doi: 10.1136/bcr.02.2009.1574 [Summary] [Full text] [Request Permissions]  

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]  

Atypical early onset of diabetes, deafness and lung cancer in a male patient with mitochondrial mutations in peripheral mononuclear cells

Satoru Suzuki, Masahiro Takei, Takashi Ehara, Shin-ichi Nishio, Hidefumi Inaba, and Kiyoshi Hashizume
BMJ Case Reports doi: 10.1136/bcr.03.2009.1648 [Summary] [Full text] [Request Permissions]  

Possible fenugreek induced haemolysis in a patient with previously unknown G6PD deficiency

Joseph Marshall Sadler, Jr, Stephen Ash, and Finella Marie Brito-Babapulle
BMJ Case Reports doi: 10.1136/bcr.09.2008.0895 [Summary] [Full text] [Request Permissions]  

Creutzfeldt–Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP

X F Wang, Y J Guo, B Y Zhang, W Q Zhao, J M Gao, Y Z Wan, F Li, J Han, D X Wang, and X P Dong
BMJ Case Reports doi: 10.1136/bcr.06.2009.2002 [Summary] [Full text] [Request Permissions]  

Ehlers-Danlos syndrome

Rajin Choudhury, Valeriu Revenco, and Radu Darciuc
BMJ Case Reports doi: 10.1136/bcr.05.2009.1850 [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]