Human Molecular Genetics

ARTICLES:

Thomas Sander, Herbert Schulz, Kathrin Saar, Elena Gennaro, M. Concetta Riggio, Amedeo Bianchi, Federico Zara, David Luna, Christine Bulteau, Anna Kaminska, Dorothée Ville, Cécile Cieuta, Fabienne Picard, Jean-François Prud’homme, Louise Bate, Anders Sundquist, R. Mark Gardiner, Guus A.M.A.J. Janssen, Gerrit-Jan de Haan, Dorothée G.A. Kasteleijn-Nolst-Trenité, Adri Bader, Dick Lindhout, Olaf Riess, Thomas F. Wienker, Dieter Janz, and André Reis

Genome search for susceptibility loci of common idiopathic generalised epilepsies
Hum. Mol. Genet. 2000 9: 1465-1472; doi:10.1093/hmg/9.10.1465 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jill Dixon, Cord Brakebusch, Reinhard Fässler, and Michael J. Dixon

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome
Hum. Mol. Genet. 2000 9: 1473-1480; doi:10.1093/hmg/9.10.1473 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Malcolm W. Turner, Leonie Dinan, Susan Heatley, Dominic L. Jack, Barry Boettcher, Susan Lester, James McCluskey, and Don Roberton

Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians
Hum. Mol. Genet. 2000 9: 1481-1486; doi:10.1093/hmg/9.10.1481 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Filippo Tamanini, Laura L. Kirkpatrick, Joris Schonkeren, Leontine van Unen, Carola Bontekoe, Cathy Bakker, David L. Nelson, Hans Galjaard, Ben A. Oostra, and André T. Hoogeveen

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
Hum. Mol. Genet. 2000 9: 1487-1493; doi:10.1093/hmg/9.10.1487 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David H. Gutmann, Jessica Donahoe, Arie Perry, Nancy Lemke, Karen Gorse, Kanokwan Kittiniyom, Sandra A. Rempel, Jorge A. Gutierrez, and Irene F. Newsham

Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas
Hum. Mol. Genet. 2000 9: 1495-1500; doi:10.1093/hmg/9.10.1495 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stanislav Kmoch, Hana Hartmannová, Blanka Stibùrková, Jakub Krijt, Marie Zikánová, and Ivan Sebesta

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients
Hum. Mol. Genet. 2000 9: 1501-1513; doi:10.1093/hmg/9.10.1501 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rosemary L. Brown, A. Neil Pollock, Kenneth G. Couchman, Michael Hodges, David O. Hutchinson, Rupene Waaka, Patrick Lynch, Tommie V. McCarthy, and Kathryn M. Stowell

A novel ryanodine receptor mutation and genotype–phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree
Hum. Mol. Genet. 2000 9: 1515-1524; doi:10.1093/hmg/9.10.1515 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alexander S. Hill, Nicola J. Foot, Tracy L. Chaplin, and Bryan D. Young

The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific Alu-mediated recombination
Hum. Mol. Genet. 2000 9: 1525-1532; doi:10.1093/hmg/9.10.1525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kati Asumalahti, Tarja Laitinen, Raija Itkonen-Vatjus, Marja-Liisa Lokki, Sari Suomela, Erna Snellman, Ulpu Saarialho-Kere, and Juha Kere

A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele
Hum. Mol. Genet. 2000 9: 1533-1542; doi:10.1093/hmg/9.10.1533 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jozsef P. Nemes, Kellie A. Benzow, and Michael D. Koob

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
Hum. Mol. Genet. 2000 9: 1543-1551; doi:10.1093/hmg/9.10.1543 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sean Grimmond, Nick Van Hateren, Pam Siggers, Ruth Arkell, Rachel Larder, Marcelo Bento Soares, Maria de Fatima Bonaldo, Lee Smith, Zuzanna Tymowska-Lalanne, Christine Wells, and Andy Greenfield

Sexually dimorphic expression of protease nexin-1 and vanin-1 in the developing mouse gonad prior to overt differentiation suggests a role in mammalian sexual development
Hum. Mol. Genet. 2000 9: 1553-1560; doi:10.1093/hmg/9.10.1553 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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