Human Molecular Genetics

ARTICLES:

Mona D. Shahbazian, Barbara Antalffy, Dawna L. Armstrong, and Huda Y. Zoghbi

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
Hum. Mol. Genet. 2002 11: 115-124; doi:10.1093/hmg/11.2.115 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Fiona C. Broackes-Carter, Nathalie Mouchel, Deborah Gill, Stephen Hyde, John Bassett, and Ann Harris

Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapy
Hum. Mol. Genet. 2002 11: 125-131; doi:10.1093/hmg/11.2.125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael T. Lin, David K. Simon, Colette H. Ahn, Lauren M. Kim, and M. Flint Beal

High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer’s disease brain
Hum. Mol. Genet. 2002 11: 133-145; doi:10.1093/hmg/11.2.133 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kathleen Freson, Gert Matthijs, Chantal Thys, Paul Mariën, Marc F. Hoylaerts, Jos Vermylen, and Chris Van Geet

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation
Hum. Mol. Genet. 2002 11: 147-152; doi:10.1093/hmg/11.2.147 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alessia Errico, Andrea Ballabio, and Elena I. Rugarli

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
Hum. Mol. Genet. 2002 11: 153-163; doi:10.1093/hmg/11.2.153 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bart van de Sluis, Jan Rothuizen, Peter L. Pearson, Bernard A. van Oost, and Cisca Wijmenga

Identification of a new copper metabolism gene by positional cloning in a purebred dog population
Hum. Mol. Genet. 2002 11: 165-173; doi:10.1093/hmg/11.2.165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Natasha J. Caplen, J. Paul Taylor, Victoria S. Statham, Fumiaki Tanaka, Andrew Fire, and Richard A. Morgan

Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference
Hum. Mol. Genet. 2002 11: 175-184; doi:10.1093/hmg/11.2.175 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joël Girouard, Yves Giguère, Robert Delage, and François Rousseau

Prevalence of HFE gene C282Y and H63D mutations in a French–Canadian population of neonates and in referred patients
Hum. Mol. Genet. 2002 11: 185-189; doi:10.1093/hmg/11.2.185 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Walther J. A. A. van den Broek, Marcel R. Nelen, Derick G. Wansink, Marga M. Coerwinkel, Hein te Riele, Patricia J. T. A. Groenen, and Bé Wieringa

Somatic expansion behaviour of the (CTG)_n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch–repair proteins
Hum. Mol. Genet. 2002 11: 191-198; doi:10.1093/hmg/11.2.191 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kyoko Iwao, Ryo Matoba, Noriko Ueno, Akiko Ando, Yasuo Miyoshi, Kenichi Matsubara, Shinzaburo Noguchi, and Kikuya Kato

Molecular classification of primary breast tumors possessing distinct prognostic properties
Hum. Mol. Genet. 2002 11: 199-206; doi:10.1093/hmg/11.2.199 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.