Human Molecular Genetics

ARTICLES:

Hsan-Jan Yen, Marwan K. Tayeh, Robert F. Mullins, Edwin M. Stone, Val C. Sheffield, and Diane C. Slusarski

Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
Human Molecular Genetics Advance Access published on January 6, 2006
Hum. Mol. Genet. 2006 15: 667-677; doi:10.1093/hmg/ddi468 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Raymonda Varon, Véronique Dutrannoy, Georg Weikert, Caterina Tanzarella, Antonio Antoccia, Lars Stöckl, Emanuela Spadoni, Lars-Arne Krüger, Alessandra di Masi, Karl Sperling, Martin Digweed, and Paola Maraschio

Mild Nijmegen breakage syndrome phenotype due to alternative splicing
Human Molecular Genetics Advance Access published on January 13, 2006
Hum. Mol. Genet. 2006 15: 679-689; doi:10.1093/hmg/ddi482 [Abstract] [Full Text] [PDF] [Request Permissions]  

Gretta Abou-Sleymane, Frédéric Chalmel, Dominique Helmlinger, Aurélie Lardenois, Christelle Thibault, Chantal Weber, Karine Mérienne, Jean-Louis Mandel, Olivier Poch, Didier Devys, and Yvon Trottier

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program
Human Molecular Genetics Advance Access published on January 24, 2006
Hum. Mol. Genet. 2006 15: 691-703; doi:10.1093/hmg/ddi483 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Robert A. Waterland, Juan-Ru Lin, Charlotte A. Smith, and Randy L. Jirtle

Post-weaning diet affects genomic imprinting at the insulin-like growth factor 2 (Igf2) locus
Human Molecular Genetics Advance Access published on January 18, 2006
Hum. Mol. Genet. 2006 15: 705-716; doi:10.1093/hmg/ddi484 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Jung Ha Choo, Jeong Do Kim, Jae Hoon Chung, Lisa Stubbs, and Joomyeong Kim

Allele-specific deposition of macroH2A1 in imprinting control regions
Human Molecular Genetics Advance Access published on January 18, 2006
Hum. Mol. Genet. 2006 15: 717-724; doi:10.1093/hmg/ddi485 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Bethan Britt-Compton, Jan Rowson, Matthew Locke, Ian Mackenzie, David Kipling, and Duncan M. Baird

Structural stability and chromosome-specific telomere length is governed by cis-acting determinants in humans
Human Molecular Genetics Advance Access published on January 18, 2006
Hum. Mol. Genet. 2006 15: 725-733; doi:10.1093/hmg/ddi486 [Abstract] [Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Graham Casey, Phillippa J. Neville, Xin Liu, Sarah J. Plummer, Mine S. Cicek, Lisa M. Krumroy, Anthony P. Curran, Michelle R. McGreevy, William J. Catalona, Eric A. Klein, and John S. Witte

Podocalyxin variants and risk of prostate cancer and tumor aggressiveness
Human Molecular Genetics Advance Access published on January 24, 2006
Hum. Mol. Genet. 2006 15: 735-741; doi:10.1093/hmg/ddi487 [Abstract] [Full Text] [PDF] [Request Permissions]  

Gary M. Wilson, Stephane Flibotte, Vikramjit Chopra, Brianna L. Melnyk, William G. Honer, and Robert A. Holt

DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling
Human Molecular Genetics Advance Access published on January 24, 2006
Hum. Mol. Genet. 2006 15: 743-749; doi:10.1093/hmg/ddi489 [Abstract] [Full Text] [PDF] [Request Permissions]  

Erwin van Wijk, Bert van der Zwaag, Theo Peters, Ulrike Zimmermann, Heleen te Brinke, Ferry F.J. Kersten, Tina Märker, Elena Aller, Lies H. Hoefsloot, Cor W.R.J. Cremers, Frans P.M. Cremers, Uwe Wolfrum, Marlies Knipper, Ronald Roepman, and Hannie Kremer

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
Human Molecular Genetics Advance Access published on January 24, 2006
Hum. Mol. Genet. 2006 15: 751-765; doi:10.1093/hmg/ddi490 [Abstract] [Full Text] [PDF] [Request Permissions]  

Caroline Lefèvre, Bakar Bouadjar, Véronique Ferrand, Gianluca Tadini, André Mégarbané, Mark Lathrop, Jean-François Prud'homme, and Judith Fischer

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Human Molecular Genetics Advance Access published on January 25, 2006
Hum. Mol. Genet. 2006 15: 767-776; doi:10.1093/hmg/ddi491 [Abstract] [Full Text] [PDF] [Request Permissions]  

Shipra Agrawal and Charis Eng

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer
Human Molecular Genetics Advance Access published on January 25, 2006
Hum. Mol. Genet. 2006 15: 777-787; doi:10.1093/hmg/ddi492 [Abstract] [Full Text] [PDF] [Request Permissions]  

Jane Gibson, Newton E. Morton, and Andrew Collins

Extended tracts of homozygosity in outbred human populations
Human Molecular Genetics Advance Access published on January 25, 2006
Hum. Mol. Genet. 2006 15: 789-795; doi:10.1093/hmg/ddi493 [Abstract] [Full Text] [PDF] [Request Permissions]  

G.-T. Ho, N. Soranzo, E.R. Nimmo, A. Tenesa, D.B. Goldstein, and J. Satsangi

ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach
Human Molecular Genetics Advance Access published on January 24, 2006
Hum. Mol. Genet. 2006 15: 797-805; doi:10.1093/hmg/ddi494 [Abstract] [Full Text] [PDF] [Request Permissions]  

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