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Citations 11-20 of 200 total displayed.

Letters to JMG
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, F D Porter
J. Med. Genet. 2005; 42: 350-357. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Inadvertent diagnosis of male infertility through genealogical DNA testing

T E King, E Bosch, S M Adams, E J Parkin, Z H Rosser, M A Jobling
J. Med. Genet. 2005; 42: 366-368. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study

H Qu, M-C Tessier, T J Hudson, C Polychronakos
J. Med. Genet. 2005; 42: 266-270. [Extract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek
J. Med. Genet. 2005; 42: e11. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

A Sarkozy, E Conti, C Neri, R D’Agostino, M C Digilio, G Esposito, A Toscano, B Marino, A Pizzuti, B Dallapiccola
J. Med. Genet. 2005; 42: e16. [Extract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Mutational spectrum of NSDHL in CHILD syndrome

D Bornholdt, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, É Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A L Meiss, P A Treadwell, D Lambert, F Camacho, K-H Grzeschik
J. Med. Genet. 2005; 42: e17. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

S Reid, A Renwick, S Seal, L Baskcomb, R Barfoot, H Jayatilake, The Breast Cancer Susceptibility Collaboration (UK), K Pritchard-Jones, M R Stratton, A Ridolfi-Lüthy, N Rahman for the Familial Wilms Tumour Collaboration
J. Med. Genet. 2005; 42: 147-151. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Mapping of psoriasis to 17q terminus

W-L Hwu, C-F Yang, C S J Fann, C-L Chen, T-F Tsai, Y-H Chien, S-C Chiang, C-H Chen, S-I Hung, J-Y Wu, Y-T Chen
J. Med. Genet. 2005; 42: 152-158. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only Table ]  

Letters to JMG
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, L Colleaux
J. Med. Genet. 2005; 42: 166-171. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only Figures ]  

Letters to JMG
A full genome scan for gastric cancer

M Aoki, K Yamamoto, H Noshiro, K Sakai, J Yokota, T Kohno, T Tokino, S Ishida, S Ohyama, I Ninomiya, K Uesaka, M Kitajima, S Shimada, S Matsuno, M Yano, M Hiratsuka, H Sugimura, F Itoh, T Minamoto, Y Maehara, S Takenoshita, T Aikou, H Katai, K Yoshimura, T Takahashi, K Akagi, M Sairenji, Y Yamamura, T Sasazuki
J. Med. Genet. 2005; 42: 83-87. [Extract] [Full text] [PDF] [Request Permissions]