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Volume 47; Issue 7
Main
Journal of Medical Genetics
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2010
11
Correction
Journal:
Journal of Medical Genetics
Year:
2010
Language:
english
File:
PDF, 70 KB
Your tags:
english, 2010
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