Association of partial AZFc region deletions with spermatogenic impairment and male infertility
A Ferlin, A Tessari, F Ganz, E Marchina, S Barlati, A Garolla, B Engl, and C Foresta
J Med Genet 2005; 42: 209-213. doi:10.1136/jmg.2004.025833
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Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in EmeryDreifuss muscular dystrophy
V Cenni, P Sabatelli, E Mattioli, S Marmiroli, C Capanni, A Ognibene, S Squarzoni, N M Maraldi, G Bonne, M Columbaro, L Merlini, and G Lattanzi
J Med Genet 2005; 42: 214-220. doi:10.1136/jmg.2004.026112
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A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases
P-Y Liu, Y-Y Zhang, Y Lu, J-R Long, H Shen, Lan-J Zhao, F-H Xu, P Xiao, D-H Xiong, Y-J Liu, R R Recker, and H-W Deng
J Med Genet 2005; 42: 221-227. doi:10.1136/jmg.2004.024752
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Vitamin D receptor gene polymorphisms are linked to and associated with adult height
D-H Xiong, F-H Xu, P-Y Liu, H Shen, J-R Long, L Elze, R R Recker, and H-W Deng
J Med Genet 2005; 42: 228-234. doi:10.1136/jmg.2004.024083
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Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
M Y M Ng, T Andrew, T D Spector, S Jeffery, (representing the Lymphoedema Consortium)
J Med Genet 2005; 42: 235-239. doi:10.1136/jmg.2004.024075
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Association of oestrogen receptor gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone
O M E Albagha, U Pettersson, A Stewart, F E A McGuigan, H M MacDonald, D M Reid, and S H Ralston
J Med Genet 2005; 42: 240-246. doi:10.1136/jmg.2004.023895
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Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
B Hoffmann, A Garcia de Lorenzo, A Mehta, M Beck, U Widmer, R Ricci, on behalf of the FOS European Investigators
J Med Genet 2005; 42: 247-252. doi:10.1136/jmg.2004.025791
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Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4 , based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes
P Aubourg, M Krahn, R Bernard, K Nguyen, O Forzano, I Boccaccio, V Delague, A De Sandre-Giovannoli, J Pouget, D Depétris, M-G Mattei, N Philip, and N Lévy
J Med Genet 2005; 42: 253-259. doi:10.1136/jmg.2004.021899
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Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
A De Sandre-Giovannoli, V Delague, T Hamadouche, M Chaouch, M Krahn, I Boccaccio, T Maisonobe, E Chouery, R Jabbour, S Atweh, D Grid, A Mégarbané, and N Lévy
J Med Genet 2005; 42: 260-265. doi:10.1136/jmg.2004.024364
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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, and C Polychronakos
J Med Genet 2005; 42: 266-270. doi:10.1136/jmg.2004.026971
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MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
J-W Kim, J P Simmer, T C Hart, P S Hart, M D Ramaswami, J D Bartlett, and J C-C Hu
J Med Genet 2005; 42: 271-275. doi:10.1136/jmg.2004.024505
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Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients
J D Fackenthal, L Sveen, Q Gao, E K Kohlmeir, C Adebamowo, T O Ogundiran, A A Adenipekun, R Oyesegun, O Campbell, C Rotimi, E E U Akang, S Das, and O I Olopade
J Med Genet 2005; 42: 276-281. doi:10.1136/jmg.2004.020446
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Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1 -antitrypsin deficiency
I Ferrarotti, J Baccheschi, M Zorzetto, C Tinelli, L Corda, B Balbi, I Campo, E Pozzi, G Faa, P Coni, G Massi, G Stella, and M Luisetti
J Med Genet 2005; 42: 282-287. doi:10.1136/jmg.2004.023903
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A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
M A M van Steensel, P M Steijlen, R S Bladergroen, M Vermeer, and M van Geel
J Med Genet 2005; 42: e19. doi:10.1136/jmg.2004.021030
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Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations
B Leegte, A H van der Hout, A M Deffenbaugh, M K Bakker, I M Mulder, A ten Berge, E P Leenders, J Wesseling, J de Hullu, N Hoogerbrugge, M J L Ligtenberg, A Ardern-Jones, E Bancroft, A Salmon, J Barwell, R Eeles, and J C Oosterwijk
J Med Genet 2005; 42: e20. doi:10.1136/jmg.2004.027243
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