Journal of Medical Genetics

Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma
D P Dimasi, A W Hewitt, C M Green, D A Mackey, J E Craig

Journal of Medical Genetics Sep 2005, 42 (9) e55; DOI: 10.1136/jmg.2005.032458
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis
K Fujiki, H Ishiguro, S BH Ko, N Mizuno, Y Suzuki, T Takemura, A Yamamoto, T Yoshikawa, M Kitagawa, T Hayakawa, Y Sakai, T Takayama, M Saito, T Kondo, S Naruse

Journal of Medical Genetics May 2004, 41 (5) e55; DOI: 10.1136/jmg.2003.014456
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease
T R Olsen, L Tranebjærg, E A Kvittingen, L Hagenfeldt, C Møller, Ø Nilssen

Journal of Medical Genetics Sep 2002, 39 (9) e55; DOI: 10.1136/jmg.39.9.e55
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
J C Sánchez-Gutiérrez, T Benlloch, M A Leal, B Samper, I García-Ripoll, J E Felíu

Journal of Medical Genetics Sep 2002, 39 (9) e56; DOI: 10.1136/jmg.39.9.e56
Women’s preferences and consultants’ communication of risk in consultations about familial breast cancer: impact on patient outcomes
E A Lobb, P N Butow, B Meiser, A Barratt, C Gaff, M A Young, J Kirk, M Gattas, M Gleeson, K Tucker

Journal of Medical Genetics May 2003, 40 (5) e56; DOI: 10.1136/jmg.40.5.e56
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
J Douglas, K Tatton-Brown, K Coleman, S Guerrero, J Berg, T R P Cole, D FitzPatrick, Y Gillerot, H E Hughes, D Pilz, F L Raymond, I K Temple, A Irrthum, J P Schouten, N Rahman

Journal of Medical Genetics Sep 2005, 42 (9) e56; DOI: 10.1136/jmg.2005.031930
Comprehensive diagnosis of Rett’s syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients
Y Petel-Galil, B Ben-Zeev, I Greenbaum, M Vecsler, B Goldman, H Lohi, B A Minassian, E Gak

Journal of Medical Genetics Dec 2006, 43 (12) e56; DOI: 10.1136/jmg.2006.041285
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly
P A Gupta, D D Wallis, T O Chin, H Northrup, V T Tran-Fadulu, J A Towbin, D M Milewicz

Journal of Medical Genetics May 2004, 41 (5) e56; DOI: 10.1136/jmg.2003.012880
The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
R A Whittall, S Matheus, T Cranston, G J Miller, S E Humphries

Journal of Medical Genetics Sep 2002, 39 (9) e57; DOI: 10.1136/jmg.39.9.e57
Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families
W J Yang, J F Huang, C L Yao, Z J Fan, D L Ge, W Q Gan, G Y Huang, R T Hui, Y Shen, B Q Qiang, D F Gu

Journal of Medical Genetics May 2003, 40 (5) e57; DOI: 10.1136/jmg.40.5.e57

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