Human Molecular Genetics

REPORTS:

Lúcia Y. Brown, Sylvie Odent, Véronique David, Martine Blayau, Christèle Dubourg, Can Apacik, Mauricio A. Delgado, Bryan D. Hall, James F. Reynolds, Annemarie Sommer, Dagmar Wieczorek, Stephen A. Brown, and Maximilian Muenke

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination
Hum. Mol. Genet. 2001 10: 791-796; doi:10.1093/hmg/10.8.791 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hans Gerd Nothwang, H.G. Kim, J. Aoki, M. Geisterfer, S. Kübart, R. D. Wegner, A. van Moers, L. K. Ashworth, T. Haaf, J. Bell, H. Arai, N. Tommerup, H. H. Ropers, and J. Wirth

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain
Hum. Mol. Genet. 2001 10: 797-806; doi:10.1093/hmg/10.8.797 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Beverly K. Jones, John Levorse, and Shirley M. Tilghman

Deletion of a nuclease-sensitive region between the Igf2 and H19 genes leads to Igf2 misregulation and increased adiposity
Hum. Mol. Genet. 2001 10: 807-814; doi:10.1093/hmg/10.8.807 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Miroslava Ogorelkova, Hans G. Kraft, Christian Ehnholm, and Gerd Utermann

Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians
Hum. Mol. Genet. 2001 10: 815-824; doi:10.1093/hmg/10.8.815 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David H. Gutmann, Carrie A. Haipek, Stephen P. Burke, Chun-Xiao Sun, Daniel R. Scoles, and Stefan M. Pulst

The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the ‘open’ conformation and suppresses cell growth and motility
Hum. Mol. Genet. 2001 10: 825-834; doi:10.1093/hmg/10.8.825 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shazia S. Chaudhry, James Gazzard, Clair Baldock, Jill Dixon, Matthew J. Rock, Gail C. Skinner, Karen P. Steel, Cay M. Kielty, and Michael J. Dixon

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice
Hum. Mol. Genet. 2001 10: 835-843; doi:10.1093/hmg/10.8.835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mário Gomes-Pereira, M. Teresa Fortune, and Darren G. Monckton

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates
Hum. Mol. Genet. 2001 10: 845-854; doi:10.1093/hmg/10.8.845 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mehrdad Khajavi, Ana M. Tari, Nalini B. Patel, Kuniko Tsuji, Doris R. Siwak, Marvin L. Meistrich, Nicholas H. A. Terry, and Tetsuo Ashizawa

‘Mitotic drive’ of expanded CTG repeats in myotonic dystrophy type 1 (DM1)
Hum. Mol. Genet. 2001 10: 855-863; doi:10.1093/hmg/10.8.855 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Darryl Y. Nishimura, Charles C. Searby, Rivka Carmi, Khalil Elbedour, Lionel Van Maldergem, Anne B. Fulton, Byron L. Lam, Berkley R. Powell, Ruth E. Swiderski, Kevin E. Bugge, Neena B. Haider, Anne E. Kwitek-Black, Lihua Ying, David M. Duhl, Susan W. Gorman, Elise Heon, Alessandro Iannaccone, Dominique Bonneau, Leslie G. Biesecker, Samuel G. Jacobson, Edwin M. Stone, and Val C. Sheffield

Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)
Hum. Mol. Genet. 2001 10: 865-874; doi:10.1093/hmg/10.8.865 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Judith Fischer, Bakar Bouadjar, Roland Heilig, Marcel Huber, Caroline Lefèvre, Florence Jobard, Françoise Macari, Ana Bakija-Konsuo, Farid Ait-Belkacem, Jean Weissenbach, Mark Lathrop, Daniel Hohl, and Jean-François Prud’homme

Mutations in the gene encoding SLURP-1 in Mal de Meleda
Hum. Mol. Genet. 2001 10: 875-880; doi:10.1093/hmg/10.8.875 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrizia Zavattari, Rosanna Lampis, Costantino Motzo, Miriam Loddo, Annapaola Mulargia, Michael Whalen, Mario Maioli, Efisio Angius, John A. Todd, and Francesco Cucca

Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci
Hum. Mol. Genet. 2001 10: 881-889; doi:10.1093/hmg/10.8.881 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lyle J. Palmer, Kathleen C. Barnes, Paul R. Burton, Hong Chen, William O.C.M. Cookson, Collaborative Study on the Genetics of Asthma, Klaus A. Deichmann, Robert C. Elston, John W. Holloway, Kevin B. Jacobs, Tarja Laitinen, and Matthias Wjst

Meta-analysis for linkage to asthma and atopy in the chromosome 5q31–33 candidate region
Hum. Mol. Genet. 2001 10: 891-899; doi:10.1093/hmg/10.8.891 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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