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Volume 48; Issue 7
Main
Journal of Medical Genetics
Volume 48; Issue 7
Journal of Medical Genetics
Volume 48; Issue 7
1
A role for XRCC2 gene polymorphisms in breast cancer risk and survival
Lin, W.-Y.
,
Camp, N. J.
,
Cannon-Albright, L. A.
,
Allen-Brady, K.
,
Balasubramanian, S.
,
Reed, M. W. R.
,
Hopper, J. L.
,
Apicella, C.
,
Giles, G. G.
,
Southey, M. C.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 383 KB
Your tags:
english, 2011
2
Revisiting genome wide association studies (GWAS) in coeliac disease: replication study in Spanish population and expression analysis of candidate genes
Plaza-Izurieta, L.
,
Castellanos-Rubio, A.
,
Irastorza, I.
,
Fernandez-Jimenez, N.
,
Gutierrez, G.
,
Bilbao, J. R.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 318 KB
Your tags:
english, 2011
3
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects
Jeanpierre, C.
,
Mace, G.
,
Parisot, M.
,
Moriniere, V.
,
Pawtowsky, A.
,
Benabou, M.
,
Martinovic, J.
,
Amiel, J.
,
Attie-Bitach, T.
,
Delezoide, A.-L.
,
Loget, P.
,
Blanchet, P.
,
Gaillard, D.
,
Gonzales, M.
,
Ca
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 135 KB
Your tags:
english, 2011
4
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population
McMaster, M. L.
,
Goldstein, A. M.
,
Parry, D. M.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 238 KB
Your tags:
english, 2011
5
Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues
Axford, M. M.
,
Lopez-Castel, A.
,
Nakamori, M.
,
Thornton, C. A.
,
Pearson, C. E.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 802 KB
Your tags:
english, 2011
6
Array comparative genomic hybridisation on first polar bodies suggests that non-disjunction is not the predominant mechanism leading to aneuploidy in humans
Gabriel, A. S.
,
Thornhill, A. R.
,
Ottolini, C. S.
,
Gordon, A.
,
Brown, A. P. C.
,
Taylor, J.
,
Bennett, K.
,
Handyside, A.
,
Griffin, D. K.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 635 KB
Your tags:
english, 2011
7
Association of HLA class I markers with multiple sclerosis in the Italian and UK population: evidence of two independent protective effects
Bergamaschi, L.
,
Ban, M.
,
Barizzone, N.
,
Leone, M.
,
Ferrante, D.
,
Fasano, M. E.
,
Guerini, F. R.
,
Corrado, L.
,
Naldi, P.
,
Dametto, E.
,
Agliardi, C.
,
Salvetti, M.
,
Mechelli, R.
,
Galimberti, D.
,
Scarpini
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 236 KB
Your tags:
english, 2011
8
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour
Kratz, C. P.
,
Han, S. S.
,
Rosenberg, P. S.
,
Berndt, S. I.
,
Burdett, L.
,
Yeager, M.
,
Korde, L. A.
,
Mai, P. L.
,
Pfeiffer, R.
,
Greene, M. H.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 439 KB
Your tags:
english, 2011
9
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa
Kiritsi, D.
,
Kern, J. S.
,
Schumann, H.
,
Kohlhase, J.
,
Has, C.
,
Bruckner-Tuderman, L.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 1001 KB
Your tags:
english, 2011
10
Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease
Khor, C. C.
,
Davila, S.
,
Shimizu, C.
,
Sheng, S.
,
Matsubara, T.
,
Suzuki, Y.
,
Newburger, J. W.
,
Baker, A.
,
Burgner, D.
,
Breunis, W.
,
Kuijpers, T.
,
Wright, V. J.
,
Levin, M.
,
Hibberd, M. L.
,
Burns, J. C.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 324 KB
Your tags:
english, 2011
11
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease
Schormair, B.
,
Plag, J.
,
Kaffe, M.
,
Gross, N.
,
Czamara, D.
,
Samtleben, W.
,
Lichtner, P.
,
Strohle, A.
,
Stefanidis, I.
,
Vainas, A.
,
Dardiotis, E.
,
Sakkas, G. K.
,
Gieger, C.
,
Muller-Myhsok, B.
,
Meitinger
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2011
12
Gastrointestinal polyps in McCune Albright syndrome
Zacharin, M.
,
Bajpai, A.
,
Chow, C. W.
,
Catto-Smith, A.
,
Stratakis, C.
,
Wong, M. W.
,
Scott, R.
Journal:
Journal of Medical Genetics
Year:
2011
Language:
english
File:
PDF, 224 KB
Your tags:
english, 2011
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