Journal of Medical Genetics: 43 (10)

Electronic letters

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23 (17 October, 2006)
E Pras, O Mahler, V Kumar, M Frydman, N Gefen, E Pras, J F Hejtmancik
Angiotensinogen and transforming growth factor β1: novel genes in the pathogenesis of Crohn’s disease (17 October, 2006)
G E Hume, E V Fowler, D Lincoln, R Eri, D Templeton, T H Florin, J A Cavanaugh, G L Radford-Smith
Iron genes, iron load and risk of Alzheimer’s disease (17 October, 2006)
D J Lehmann, M Worwood, R Ellis, V L J Wimhurst, A T Merryweather-Clarke, D R Warden, A D Smith, K J H Robson
Significant association of a M129V independent polymorphism in the 5′ UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study
(17 October, 2006)
C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, H A Kretzschmar

The molecular genetics of Marfan syndrome and related disorders (29 March, 2006) Free
P N Robinson, E Arteaga-Solis, C Baldock, G Collod-Béroud, P Booms, A De Paepe, H C Dietz, G Guo, P A Handford, D P Judge, C M Kielty, B Loeys, D M Milewicz, A Ney, F Ramirez, D P Reinhardt, K Tiedemann, P Whiteman, M Godfrey

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development (11 May, 2006)
C Bouchet, J Steffann, J Corcos, S Monnot, V Paquis, A Rötig, S Lebon, P Levy, G Royer, I Giurgea, N Gigarel, A Benachi, Y Dumez, A Munnich, J P Bonnefont
SMAD4 mutations found in unselected HHT patients
(13 April, 2006)
C J Gallione, J A Richards, T G W Letteboer, D Rushlow, N L Prigoda, T P Leedom, A Ganguly, A Castells, J K Ploos van Amstel, C J J Westermann, R E Pyeritz, D A Marchuk
Polymorphisms of the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study
(24 May, 2006)
Yan-fang Guo, Dong-hai Xiong, Hui Shen, Lan-juan Zhao, Peng Xiao, Yan Guo, Wei Wang, Tie-lin Yang, Robert R Recker, Hong-wen Deng
Size bias of fragile X premutation alleles in late-onset movement disorders (24 May, 2006)
Sebastien Jacquemont, Maureen A Leehey, Randi J Hagerman, Laurel A Beckett, Paul J Hagerman

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1 (29 March, 2006)
M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, V-F Mautner
Very mild cases of Rett syndrome with skewed X inactivation (11 May, 2006)
P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, J Gärtner
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect (17 May, 2006)
Dau-Ming Niu, Betau Hwang, Han-Wei Hwang, Nana H Wang, Jer-Yuarn Wu, Pi-Chang Lee, Jen-Chung Chien, Ru-Chi Shieh, Yuan-Tsong Chen

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
(11 November, 2005)
M C Bonaglia, R Giorda, E Mani, G Aceti, B-M Anderlid, A Baroncini, T Pramparo, O Zuffardi
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
(5 May, 2006)
R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, M J H Baars, L C D Wijnaendts, I Stolte-Dijkstra, M Alders, J M van Hagen