Infectious diseases

Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1
H Donninger, T J Cashmore, T Scriba, D C Petersen, E Janse van Rensburg, V M Hayes

Journal of Medical Genetics Apr 2004, 41 (4) e49; DOI: 10.1136/jmg.2003.013318
Inositol and folate resistant neural tube defects
P Cavalli, A J Copp

Journal of Medical Genetics Feb 2002, 39 (2) e5; DOI: 10.1136/jmg.39.2.e5
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene
M Rodríguez-Ballesteros, M Olarte, L A Aguirre, F Galán, R Galán, L A Vallejo, C Navas, M Villamar, M A Moreno-Pelayo, F Moreno, I del Castillo

Journal of Medical Genetics Nov 2006, 43 (11) e54; DOI: 10.1136/jmg.2006.042440
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
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family
A Lupi, A Rossi, E Campari, F Pecora, A M Lund, N H Elcioglu, M Gultepe, M Di Rocco, G Cetta, A Forlino

Journal of Medical Genetics Dec 2006, 43 (12) e58; DOI: 10.1136/jmg.2006.043315
Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation
A Aboura, P Labrune, F Perreaux, V Poncet, S Brisset, L Foix-L’Helias, G Tachdjian

Journal of Medical Genetics Jan 2003, 40 (1) e6; DOI: 10.1136/jmg.40.1.e6
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel
Q Wang, S Chen, Q Chen, X Wan, J Shen, G A Hoeltge, A A Timur, M T Keating, G E Kirsch

Journal of Medical Genetics May 2004, 41 (5) e66; DOI: 10.1136/jmg.2003.013300
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome
K Fukuchi, T Katsuya, K Sugimoto, M Kuremura, H D Kim, L Li, T Ogihara

Journal of Medical Genetics May 2004, 41 (5) e67; DOI: 10.1136/jmg.2003.014688
Genetic influences on the circulating cytokines involved in osteoclastogenesis
G Livshits, I Pantsulaia, S Trofimov, E Kobyliansky

Journal of Medical Genetics Jun 2004, 41 (6) e76; DOI: 10.1136/jmg.2003.014373
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family
Q J Wang, C Y Lu, N Li, S Q Rao, Y B Shi, D Y Han, X Li, J Y Cao, L M Yu, Q Z Li, M X Guan, W Y Yang, Y Shen

Journal of Medical Genetics Jun 2004, 41 (6) e80; DOI: 10.1136/jmg.2003.012799

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