Human Molecular Genetics

ARTICLES:

David R. FitzPatrick, Jacqueline Ramsay, Niolette I. McGill, Mary Shade, Andrew D. Carothers, and Nicholas D. Hastie

Transcriptome analysis of human autosomal trisomy
Hum. Mol. Genet. 2002 11: 3249-3256; doi:10.1093/hmg/11.26.3249 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kaiyi Li, Maricela A. Ramirez, Esmie Rose, and Arthur L. Beaudet

A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor
Hum. Mol. Genet. 2002 11: 3257-3265; doi:10.1093/hmg/11.26.3257 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rosemary A. Fisher, Matthew D. Hodges, Helene C. Rees, Neil J. Sebire, Michael J. Seckl, Edward S. Newlands, David R. Genest, and Diego H. Castrillon

The maternally transcribed gene p57^KIP2 (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles
Hum. Mol. Genet. 2002 11: 3267-3272; doi:10.1093/hmg/11.26.3267 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pascale de Lonlay, Claude Mugnier, Damien Sanlaville, Karine Chantrel-Groussard, Paule Bénit, Sophie Lebon, Dominique Chrétien, Noman Kadhom, Safa Saker, Gabor Gyapay, Serge Romana, Jean Weissenbach, Arnold Munnich, Pierre Rustin, and Agnès Rötig

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes
Hum. Mol. Genet. 2002 11: 3273-3281; doi:10.1093/hmg/11.26.3273 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stefano Campanaro, Chiara Romualdi, Marina Fanin, Barbara Celegato, Beniamina Pacchioni, Silvia Trevisan, Paolo Laveder, Cristiano De Pittà, Elena Pegoraro, Yukiko K. Hayashi, Giorgio Valle, Corrado Angelini, and Gerolamo Lanfranchi

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
Hum. Mol. Genet. 2002 11: 3283-3298; doi:10.1093/hmg/11.26.3283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chris Ramsey, Alex Bukrinsky, and Leena Peltonen

Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting
Hum. Mol. Genet. 2002 11: 3299-3308; doi:10.1093/hmg/11.26.3299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Heon-Jin Lee, Ibrahim M. Adham, Günter Schwarz, Matthias Kneussel, Jörn O. Sass, Wolfgang Engel, and Jochen Reiss

Molybdenum cofactor-deficient mice resemble the phenotype of human patients
Hum. Mol. Genet. 2002 11: 3309-3317; doi:10.1093/hmg/11.26.3309 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chris T. Esapa, Matthew A. Benson, Jörn E. Schröder, Enca Martin-Rendon, Martin Brockington, Susan C. Brown, Francesco Muntoni, Stephan Kröger, and Derek J. Blake

Functional requirements for fukutin-related protein in the Golgi apparatus
Hum. Mol. Genet. 2002 11: 3319-3331; doi:10.1093/hmg/11.26.3319 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S. Squire, J.M. Raymackers, C. Vandebrouck, A. Potter, J. Tinsley, R. Fisher, J.M. Gillis, and K.E. Davies

Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system
Hum. Mol. Genet. 2002 11: 3333-3344; doi:10.1093/hmg/11.26.3333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David Morgan, Lorraine Eley, John Sayer, Tom Strachan, Laura M. Yates, A. Scott Craighead, and Judith A. Goodship

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle
Hum. Mol. Genet. 2002 11: 3345-3350; doi:10.1093/hmg/11.26.3345 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dominique Helmlinger, Gaël Yvert, Serge Picaud, Karine Merienne, José Sahel, Jean-Louis Mandel, and Didier Devys

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice
Hum. Mol. Genet. 2002 11: 3351-3359; doi:10.1093/hmg/11.26.3351 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C. Melissa Dobson, Timothy Wai, Daniel Leclerc, Hakan Kadir, Monica Narang, Jordan P. Lerner-Ellis, Thomas J. Hudson, David S. Rosenblatt, and Roy A. Gravel

Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria
Hum. Mol. Genet. 2002 11: 3361-3369; doi:10.1093/hmg/11.26.3361 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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