Epidemiology

Citations 1-10 of 462 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, 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 ]  

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]  

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 ]  

Review
Apoptosis and cancer: mutations within caspase genes

S Ghavami, M Hashemi, S R Ande, B Yeganeh, W Xiao, M Eshraghi, C J Bus, K Kadkhoda, E Wiechec, A J Halayko, M Los
J. Med. Genet. 2009 46: 497 -510; published online before print as 10.1136/jmg.2009.066944 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

B Grisart, L Willatt, A Destrée, J-P Fryns, K Rack, T de Ravel, J Rosenfeld, J R Vermeesch, C Verellen-Dumoulin, R Sandford
J. Med. Genet. 2009 46: 524 -530; published online before print as 10.1136/jmg.2008.065367 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Mutation report
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

C M Wang, P H Dixon, S Decordova, M D Hodges, N J Sebire, S Ozalp, M Fallahian, A Sensi, F Ashrafi, V Repiska, J Zhao, Y Xiang, P M Savage, M J Seckl, R A Fisher
J. Med. Genet. 2009 46: 569 -575; published online before print as 10.1136/jmg.2008.064196 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Review
Genetics of microtia and associated syndromes

F Alasti, G Van Camp
J. Med. Genet. 2009 46: 361 -369; published online before print as 10.1136/jmg.2008.062158 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

J Brooks, J Ding, J Simon-Sanchez, C Paisan-Ruiz, A B Singleton, S W Scholz
J. Med. Genet. 2009 46: 375 -381; published online before print as 10.1136/jmg.2008.063917 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendices ]  

Letters to JMG
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

A Ghalamkarpour, W Holnthoner, P Saharinen, L M Boon, J B Mulliken, K Alitalo, M Vikkula
J. Med. Genet. 2009 46: 399 -404; published online before print as 10.1136/jmg.2008.064469 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

J Knijnenburg, S A J Lesnik Oberstein, K Frei, T Lucas, A C J Gijsbers, C A L Ruivenkamp, H J Tanke, K Szuhai
J. Med. Genet. 2009 46: 412 -417; published online before print as 10.1136/jmg.2008.063685 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]