Clinical genetics

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
H Leonard, L Colvin, J Christodoulou, T Schiavello, S Williamson, M Davis, D Ravine, S Fyfe, N de Klerk, T Matsuishi, I Kondo, A Clarke, S Hackwell, Y Yamashita

Journal of Medical Genetics May 2003, 40 (5) e52; DOI: 10.1136/jmg.40.5.e52
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia
I Wieland, P Muschke, S Jakubiczka, M Volleth, B Freigang, P F Wieacker

Journal of Medical Genetics May 2004, 41 (5) e54; DOI: 10.1136/jmg.2003.010587
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
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family
Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis, K Psilas, M Grigoriadou, Y Zhao, S Kamaya, G Aperis, M B Petersen, K Zhang

Journal of Medical Genetics Dec 2006, 43 (12) e57; DOI: 10.1136/jmg.2005.040188
Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography
R Surber, H H Sigusch, H Kuehnert, H R Figulla

Journal of Medical Genetics May 2003, 40 (5) e58; DOI: 10.1136/jmg.40.5.e58
Evidence for association between single nucleotide polymorphisms in T complex protein 1 gene and schizophrenia in the Chinese Han population
M S Yang, L Yu, T W Guo, S M Zhu, H J Liu, Y Y Shi, N-F Gu, G Y Feng, L He

Journal of Medical Genetics May 2004, 41 (5) e63; DOI: 10.1136/jmg.2003.011023
A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
Jacinta Bustamante, Capucine Picard, Claire Fieschi, Orchidée Filipe-Santos, Jacqueline Feinberg, Christian Perronne, Ariane Chapgier, Ludovic de Beaucoudrey, Guillaume Vogt, Damien Sanlaville, Arnaud Lemainque, Jean-François Emile, Laurent Abel, Jean-Laurent Casanova

Journal of Medical Genetics Feb 2007, 44 (2) e65; DOI: 10.1136/jmg.2006.043406
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
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
P S Roberts, S Dabora, E A Thiele, D N Franz, S Jozwiak, D J Kwiatkowski

Journal of Medical Genetics May 2004, 41 (5) e69; DOI: 10.1136/jmg.2003.014126
Refined mapping of the gene for otopalatodigital syndrome type I
T Kosho, T Uemura, M Tanimura, H Ohashi, K Muroya, T Ogata

Journal of Medical Genetics Feb 2002, 39 (2) e7; DOI: 10.1136/jmg.39.2.e7

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