Human Molecular Genetics

ARTICLES:

David M. Koeller, Michael Woontner, Linda S. Crnic, Bette Kleinschmidt-DeMasters, Janet Stephens, Edgar L. Hunt, and Stephen I. Goodman

Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I
Hum. Mol. Genet. 2002 11: 347-357; doi:10.1093/hmg/11.4.347 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Malika Yousfi, Francoise Lasmoles, Vincent El Ghouzzi, and Pierre J. Marie

Twist haploinsufficiency in Saethre–Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNF expression and caspase-2 activation
Hum. Mol. Genet. 2002 11: 359-369; doi:10.1093/hmg/11.4.359 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

C. Dombrowski, S. Lévesque, M. L. Morel, P. Rouillard, K. Morgan, and F. Rousseau

Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
Hum. Mol. Genet. 2002 11: 371-378; doi:10.1093/hmg/11.4.371 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ania Koziell, Victor Grech, Sagair Hussain, Gary Lee, Ulla Lenkkeri, Karl Tryggvason, and Peter Scambler

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
Hum. Mol. Genet. 2002 11: 379-388; doi:10.1093/hmg/11.4.379 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jon S. Zawistowski, Ilya G. Serebriiskii, Maximilian F. Lee, Erica A. Golemis, and Douglas A. Marchuk

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis
Hum. Mol. Genet. 2002 11: 389-396; doi:10.1093/hmg/11.4.389 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chris Ramsey, Ola Winqvist, Lea Puhakka, Maria Halonen, Aune Moro, Olle Kämpe, Petra Eskelin, Markku Pelto-Huikko, and Leena Peltonen

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response
Hum. Mol. Genet. 2002 11: 397-409; doi:10.1093/hmg/11.4.397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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

A human H19 transgene exhibits impaired paternal-specific imprint acquisition and maintenance in mice
Hum. Mol. Genet. 2002 11: 411-418; doi:10.1093/hmg/11.4.411 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laurence Tiret, Odette Poirier, Viviane Nicaud, Sandrine Barbaux, Stefan-Martin Herrmann, Claire Perret, Ségolène Raoux, Carole Francomme, Géraud Lebard, David Trégouët, and François Cambien

Heterogeneity of linkage disequilibrium in human genes has implications for association studies of common diseases
Hum. Mol. Genet. 2002 11: 419-429; doi:10.1093/hmg/11.4.419 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alice Wong, Lucia Cavelier, Heather E. Collins-Schramm, Michael F. Seldin, Michael McGrogan, Marja-Liisa Savontaus, and Gino A. Cortopassi

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells
Hum. Mol. Genet. 2002 11: 431-438; doi:10.1093/hmg/11.4.431 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elsa Callén, Enrique Samper, María J. Ramírez, Amadeu Creus, Ricard Marcos, Juan J. Ortega, Teresa Olivé, Isabel Badell, María A. Blasco, and Jordi Surrallés

Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia
Hum. Mol. Genet. 2002 11: 439-444; doi:10.1093/hmg/11.4.439 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiao-Ping Zhou, Shannon Kuismanen, Minna Nystrom-Lahti, Païvi Peltomaki, and Charis Eng

Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors
Hum. Mol. Genet. 2002 11: 445-450; doi:10.1093/hmg/11.4.445 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francis Clark and T. A. Thanaraj

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human
Hum. Mol. Genet. 2002 11: 451-464; doi:10.1093/hmg/11.4.451 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Qubai Hu, Bethany H. Cool, Baiping Wang, Mark G. Hearn, and George M. Martin

A candidate molecular mechanism for the association of an intronic polymorphism of FE65 with resistance to very late onset dementia of the Alzheimer type
Hum. Mol. Genet. 2002 11: 465-475; doi:10.1093/hmg/11.4.465 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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