Human Molecular Genetics

ARTICLES:

Bastiaan Hoogendoorn, Sharon L. Coleman, Carol A. Guy, Kaye Smith, Tim Bowen, Paul R. Buckland, and Michael C. O'Donovan

Functional analysis of human promoter polymorphisms
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2249-2254; doi:10.1093/hmg/ddg246 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pedro Brites, Alison M. Motley, Pierre Gressens, Petra A.W. Mooyer, Ingrid Ploegaert, Vincent Everts, Philippe Evrard, Peter Carmeliet, Mieke Dewerchin, Luc Schoonjans, Marinus Duran, Hans R. Waterham, Ronald J.A. Wanders, and Myriam Baes

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2255-2267; doi:10.1093/hmg/ddg236 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sarah Hutchinson, Andre Furger, Dorothy Halliday, Daniel P. Judge, Andrew Jefferson, Harry C. Dietz, Helen Firth, and Penny A. Handford

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2269-2276; doi:10.1093/hmg/ddg241 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jean-Michel Itier, Pablo Ibáñez, María Angeles Mena, Nacer Abbas, Charles Cohen-Salmon, Georg Andrees Bohme, Michel Laville, Jeremy Pratt, Olga Corti, Laurent Pradier, Gwénäelle Ret, Chantal Joubert, Magali Periquet, Francisco Araujo, Julia Negroni, María José Casarejos, Santiago Canals, Rosa Solano, Alba Serrano, Eva Gallego, Marina Sánchez, Patrice Denèfle, Jesús Benavides, Günter Tremp, Thomas A. Rooney, Alexis Brice, and Justo García de Yébenes

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2277-2291; doi:10.1093/hmg/ddg239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yuko Hoki, Ryoko Araki, Akira Fujimori, Tatsuya Ohhata, Haruhiko Koseki, Ryutaro Fukumura, Miki Nakamura, Hirokazu Takahashi, Yuko Noda, Seiji Kito, and Masumi Abe

Growth retardation and skin abnormalities of the Recql4-deficient mouse
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2293-2299; doi:10.1093/hmg/ddg254 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paola Giuliano, Tiziana de Cristofaro, Adelina Affaitati, Grazia M. Pizzulo, Antonio Feliciello, Chiara Criscuolo, Giuseppe De Michele, Alessandro Filla, Enrico V. Avvedimento, and Stelio Varrone

DNA damage induced by polyglutamine-expanded proteins
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2301-2309; doi:10.1093/hmg/ddg242 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mirjam M. de Jong, Ilja M. Nolte, Elisabeth G. E. de Vries, Michael Schaapveld, Jan H. Kleibeuker, Elvira Oosterom, Jan C. Oosterwijk, Annemarie H. van der Hout, Gerrit van der Steege, Marcel Bruinenberg, H. Marike Boezen, Gerard J. te Meerman, and Winette T. A. van der Graaf

The HLA class III subregion is responsible for an increased breast cancer risk
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2311-2319; doi:10.1093/hmg/ddg245 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ji Hyun Lee, Ji Ha Choi, Wan Namkung, John W. Hanrahan, Joon Chang, Si Young Song, Seung Woo Park, Dong Soo Kim, Joo-Heon Yoon, Yousin Suh, In-Jin Jang, Joo Hyun Nam, Sung Joon Kim, Mi-Ook Cho, Jong-Eun Lee, Kyung Hwan Kim, and Min Goo Lee

A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases
Hum. Mol. Genet. 2003 12: 2321-2332; doi:10.1093/hmg/ddg243 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Lynne C. Olds and Eric Sibley

Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2333-2340; doi:10.1093/hmg/ddg244 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard J. Temperley, Sara H. Seneca, Katarzyna Tonska, Ewa Bartnik, Laurence A. Bindoff, Robert N. Lightowlers, and Zofia M.A. Chrzanowska-Lightowlers

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2341-2348; doi:10.1093/hmg/ddg238 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Clelia Tiziana Storlazzi, Fredrik Mertens, Antonio Nascimento, Margareth Isaksson, Johan Wejde, Otte Brosjö, Nils Mandahl, and Ioannis Panagopoulos

Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2349-2358; doi:10.1093/hmg/ddg237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Subramaniam Ganesh, Naomi Tsurutani, Toshimitsu Suzuki, Kazunori Ueda, Kishan Lal Agarwala, Hiroyuki Osada, Antonio V. Delgado-Escueta, and Kazuhiro Yamakawa

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain
Human Molecular Genetics Advance Access published on July 29, 2003
Hum. Mol. Genet. 2003 12: 2359-2368; doi:10.1093/hmg/ddg253 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Caroline Lefèvre, Stéphanie Audebert, Florence Jobard, Bakar Bouadjar, Hakima Lakhdar, Omar Boughdene-Stambouli, Claudine Blanchet-Bardon, Roland Heilig, Mario Foglio, Jean Weissenbach, Mark Lathrop, Jean-François Prud'homme, and Judith Fischer

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2369-2378; doi:10.1093/hmg/ddg235 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Charles E. Patek, Stewart Fleming, Colin G. Miles, Christopher O. Bellamy, Michael Ladomery, Lee Spraggon, John Mullins, Nicholas D. Hastie, and Martin L. Hooper

Murine Denys–Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis
Human Molecular Genetics Advance Access published on July 22, 2003
Hum. Mol. Genet. 2003 12: 2379-2394; doi:10.1093/hmg/ddg240 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

W. H. Irwin McLean, Alan D. Irvine, Kevin J. Hamill, Neil V. Whittock, Carrie M. Coleman-Campbell, Jemima E. Mellerio, Gabrielle S. Ashton, Patricia J. H. Dopping-Hepenstal, Robin A. J. Eady, Tanvir Jamil, Rodney J. Phillips, S. Ghulam Shabbir, Tahir S. Haroon, Khawar Khurshid, Jonathan E. Moore, Brian Page, Jonathan Darling, David J. Atherton, Maurice A. M. van Steensel, Colin S. Munro, Frances J. D. Smith, and John A. McGrath

An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
Human Molecular Genetics Advance Access published on July 15, 2003
Hum. Mol. Genet. 2003 12: 2395-2409; doi:10.1093/hmg/ddg234 [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.