Journal of Medical Genetics: 46 (10)

Review

Long-range regulation at the SOX9 locus in development and disease
(26 May, 2009)
C T Gordon, T Y Tan, S Benko, D FitzPatrick, S Lyonnet, P G Farlie

Association of chromosome 2q36.1–36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families (4 May, 2009)
J Gu, J Huang, C Li, L Zhao, F Huang, Z Liao, T Li, Q Wei, Z Lin, Y Pan, J Huang, X Wang, Q Lin, C Lu, Y Wu, S Cao, J Wu, H Xu, B Yu, Y Shen
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
(8 June, 2009) Free
E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, F Hildebrandt
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
(7 July, 2009)
K Kanai, S Yoshida, S Hirose, H Oguni, S Kuwabara, S Sawai, A Hiraga, G Fukuma, H Iwasa, T Kojima, S Kaneko
Phenomic determinants of genomic variation in autism spectrum disorders (21 July, 2009)
Y Qiao, N Riendeau, M Koochek, X Liu, Chansonette Harvard, M J Hildebrand, J J A Holden, E Rajcan-Separovic, M E S Lewis

High frequency of de novo mutations in Li–Fraumeni syndrome (25 June, 2009)
K D Gonzalez, C H Buzin, K A Noltner, D Gu, W Li, D Malkin, S S Sommer
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements (16 March, 2009)
L R Rowe, J-Y Lee, L Rector, E B Kaminsky, A R Brothman, C L Martin, S T South
A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome (10 June, 2009)
L Roos, A E Jønch, S Kjaergaard, K Taudorf, H Simonsen, B Hamborg-Petersen, K Brøndum-Nielsen, M Kirchhoff
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy
(6 July, 2009)
Y Bacq, C Gendrot, F Perrotin, L Lefrou, S Chrétien, V Vie-Buret, M-C Brechot, C R Andres

Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome (7 July, 2009)
S M Maas, M P Lombardi, A J van Essen, E L Wakeling, B Castle, I K Temple, V K A Kumar, K Writzl, Raoul C M Hennekam