Volume 47; Issue 7

Journal of Medical Genetics

Volume 47; Issue 7

1

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Billingsley, G., Bin, J., Fieggen, K. J., Duncan, J. L., Gerth, C., Ogata, K., Wodak, S. S., Traboulsi, E. I., Fishman, G. A., Paterson, A.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 694 KB

english, 2010

2

The revised Ghent nosology for the Marfan syndrome

Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Word

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 182 KB

english, 2010

3

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Boyer, O., Benoit, G., Gribouval, O., Nevo, F., Pawtowski, A., Bilge, I., Bircan, Z., Deschenes, G., Guay-Woodford, L. M., Hall, M., Macher, M.-A., Soulami, K., Stefanidis, C. J., Weiss, R., Loirat, C

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 449 KB

english, 2010

4

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

Fitzgerald, R. C., Hardwick, R., Huntsman, D., Carneiro, F., Guilford, P., Blair, V., Chung, D. C., Norton, J., Ragunath, K., Van Krieken, J. H., Dwerryhouse, S., Caldas, C.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 921 KB

english, 2010

5

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers

van der Post, R. S., Kiemeney, L. A., Ligtenberg, M. J. L., Witjes, J. A., Hulsbergen-van de Kaa, C. A., Bodmer, D., Schaap, L., Kets, C. M., van Krieken, J. H. J. M., Hoogerbrugge, N.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 602 KB

english, 2010

6

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

McGee, T. L., Seyedahmadi, B. J., Sweeney, M. O., Dryja, T. P., Berson, E. L.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 411 KB

english, 2010

7

Hereditary diffuse gastric cancer: lifesaving total gastrectomy for CDH1 mutation carriers

Lynch, H. T., Lynch, J. F.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 402 KB

english, 2010

8

Phenotype-genotype correlation in a familial IGF1R microdeletion case

Veenma, D. C. M., Eussen, H. J., Govaerts, L. C. P., de Kort, S. W. K., Odink, R. J., Wouters, C. H., Hokken-Koelega, A. C. S., de Klein, A.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 940 KB

english, 2010

9

FCGR2A functional genetic variant associated with susceptibility to severe malarial anaemia in Ghanaian children

Schuldt, K., Esser, C., Evans, J., May, J., Timmann, C., Ehmen, C., Loag, W., Ansong, D., Ziegler, A., Agbenyega, T., Meyer, C. G., Horstmann, R. D.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 114 KB

english, 2010

10

The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers--implications for oncogenetics practice

Bancroft, E. K., Locke, I., Ardern-Jones, A., D'Mello, L., McReynolds, K., Lennard, F., Barbachano, Y., Barwell, J., Walker, L., Mitchell, G., Dorkins, H., Cummings, C., Paterson, J., Kote-Jarai, Z.,

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

11

Correction

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 70 KB

english, 2010