Molecular genetics

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui

Journal of Medical Genetics May 2007, 44 (5) 341-346; DOI: 10.1136/jmg.2006.045880
Genetic variants in brain-derived neurotrophic factor associated with Alzheimer’s disease
R Huang, J Huang, H Cathcart, S Smith, S E Poduslo

Journal of Medical Genetics Feb 2007, 44 (2) e66; DOI: 10.1136/jmg.2006.044883
Replication of twelve association studies for Huntington’s disease residual age of onset in large Venezuelan kindreds
J M Andresen, J Gayán, S S Cherny, D Brocklebank, G Alkorta-Aranburu, E A Addis, L R Cardon, D E Housman, N S Wexler

Journal of Medical Genetics Jan 2007, 44 (1) 44-50; DOI: 10.1136/jmg.2006.045153
Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1
Douglas R Stewart, Christopher L Corless, Brian P Rubin, Michael C Heinrich, Ludwine M Messiaen, Lisa J Kessler, Paul J Zhang, David G Brooks

Journal of Medical Genetics Jan 2007, 44 (1) e61; DOI: 10.1136/jmg.2006.043075
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
C Vollmert, O Windl, W Xiang, A Rosenberger, I Zerr, H-E Wichmann, H Bickeböller, T Illig, H A Kretzschmar

Journal of Medical Genetics Oct 2006, 43 (10) e53; DOI: 10.1136/jmg.2006.040931
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, V-F Mautner

Journal of Medical Genetics Oct 2006, 43 (10) 810-813; DOI: 10.1136/jmg.2006.041095
Predicting disease genes using protein–protein interactions
M Oti, B Snel, M A Huynen, H G Brunner

Journal of Medical Genetics Aug 2006, 43 (8) 691-698; DOI: 10.1136/jmg.2006.041376
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases
A Abid, M Ismail, S Q Mehdi, S Khaliq

Journal of Medical Genetics Apr 2006, 43 (4) 378-381; DOI: 10.1136/jmg.2005.035055
Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism
H Yasuda, S Okinaga, M Yamaya, T Ohrui, M Higuchi, M Shinkawa, S Itabashi, K Nakayama, M Asada, A Kikuchi, S Shibahara, H Sasaki

Journal of Medical Genetics Apr 2006, 43 (4) e17; DOI: 10.1136/jmg.2005.035824
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
S V Tavtigian, A M Deffenbaugh, L Yin, T Judkins, T Scholl, P B Samollow, D de Silva, A Zharkikh, A Thomas

Journal of Medical Genetics Apr 2006, 43 (4) 295-305; DOI: 10.1136/jmg.2005.033878

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Molecular genetics

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