Human Molecular Genetics

ARTICLES:

Ulrica Ribbhammar, Line Flornes, Liselotte Bäckdahl, Holger Luthman, Sigbjörn Fossum, and Johnny C. Lorentzen

High resolution mapping of an arthritis susceptibility locus on rat chromosome 4, and characterization of regulated phenotypes
Human Molecular Genetics Advance Access published on July 8, 2003
Hum. Mol. Genet. 2003 12: 2087-2096; doi:10.1093/hmg/ddg224 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lídia Feliubadaló, María Lourdes Arbonés, Sandra Mañas, Josep Chillarón, Joana Visa, Margot Rodés, Ferran Rousaud, Antonio Zorzano, Manuel Palacín, and Virginia Nunes

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2097-2108; doi:10.1093/hmg/ddg228 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T. Peters, C. Thaete, S. Wolf, A. Popp, R. Sedlmeier, J. Grosse, M.C. Nehls, A. Russ, and V. Schlueter

A mouse model for cystinuria type I
Hum. Mol. Genet. 2003 12: 2109-2120; doi:10.1093/hmg/ddg189 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yongping Yang, Srividya Swaminathan, Betty K. Martin, and Shyam K. Sharan

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model
Human Molecular Genetics Advance Access published on July 8, 2003
Hum. Mol. Genet. 2003 12: 2121-2131; doi:10.1093/hmg/ddg222 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Svend Kjær and Carlos F. Ibáñez

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2133-2144; doi:10.1093/hmg/ddg227 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wei Yu, Blake C. Ballif, Catherine D. Kashork, Heidi A. Heilstedt, Leslie A. Howard, Wei-Wen Cai, Lisa D. White, Wenbin Liu, Arthur L. Beaudet, Bassem A. Bejjani, Chad A. Shaw, and Lisa G. Shaffer

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2145-2152; doi:10.1093/hmg/ddg230 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Blake C. Ballif, Wei Yu, Chad A. Shaw, Catherine D. Kashork, and Lisa G. Shaffer

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2153-2165; doi:10.1093/hmg/ddg231 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Brian P. Chadwick and Huntington F. Willard

Chromatin of the Barr body: histone and non-histone proteins associated with or excluded from the inactive X chromosome
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2167-2178; doi:10.1093/hmg/ddg229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Adrienne K. Mehalow, Shuhei Kameya, Richard S. Smith, Norman L. Hawes, James M. Denegre, James A. Young, Lesley Bechtold, Neena B. Haider, Ulrich Tepass, John R. Heckenlively, Bo Chang, Jürgen K. Naggert, and Patsy M. Nishina

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2179-2189; doi:10.1093/hmg/ddg232 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Roberto Bomprezzi, Markus Ringnér, Seungchan Kim, Michael L. Bittner, Javed Khan, Yidong Chen, Abdel Elkahloun, Aimee Yu, Bibiana Bielekova, Paul S. Meltzer, Roland Martin, Henry F. McFarland, and Jeffrey M. Trent

Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease
Human Molecular Genetics Advance Access published on July 8, 2003
Hum. Mol. Genet. 2003 12: 2191-2199; doi:10.1093/hmg/ddg221 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Lluís Armengol, Miguel Angel Pujana, Joseph Cheung, Stephen W. Scherer, and Xavier Estivill

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
Human Molecular Genetics Advance Access published on July 8, 2003
Hum. Mol. Genet. 2003 12: 2201-2208; doi:10.1093/hmg/ddg223 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria F. Paz, Susan Wei, Juan C. Cigudosa, Sandra Rodriguez-Perales, Miguel A. Peinado, Tim Hui-Ming Huang, and Manel Esteller

Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferases
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2209-2219; doi:10.1093/hmg/ddg226 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susan McLeskey Kiefer, Kevin K. Ohlemiller, Jing Yang, Bradley W. McDill, Jürgen Kohlhase, and Michael Rauchman

Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2221-2227; doi:10.1093/hmg/ddg233 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anne-Marie Laurent, Meizhang Li, Stephanie Sherman, Gérard Roizès, and Jérôme Buard

Recombination across the centromere of disjoined and non-disjoined chromosome 21
Human Molecular Genetics Advance Access published on July 8, 2003
Hum. Mol. Genet. 2003 12: 2229-2239; doi:10.1093/hmg/ddg220 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alison T. Merryweather-Clarke, Estelle Cadet, Adrian Bomford, Dominique Capron, Vip Viprakasit, Anne Miller, Paddy J. McHugh, Roger W. Chapman, Jennifer J. Pointon, Victoria L.C. Wimhurst, Karen J. Livesey, Voravarn Tanphaichitr, Jacques Rochette, and Kathryn J.H. Robson

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2241-2247; doi:10.1093/hmg/ddg225 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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