Human Molecular Genetics

ARTICLES:

YP Goldberg, MA Kalchman, M Metzler, J Nasir, J Zeisler, R Graham, HB Koide, J O'Kusky, AH Sharp, CA Ross, F Jirik, and MR Hayden

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
Hum. Mol. Genet. 1996 5: 177-185; doi:10.1093/hmg/5.2.177 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CM Wilke, BK Hall, A Hoge, W Paradee, DI Smith, and TW Glover

FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites
Hum. Mol. Genet. 1996 5: 187-195; doi:10.1093/hmg/5.2.187 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HA Bentlage and G Attardi

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number
Hum. Mol. Genet. 1996 5: 197-205; doi:10.1093/hmg/5.2.197 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

P Limprasert, N Nouri, RA Heyman, C Nopparatana, M Kamonsilp, PL Deininger, and BJ Keats

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats
Hum. Mol. Genet. 1996 5: 207-213; doi:10.1093/hmg/5.2.207 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

GM Martin, CE Ogburn, LM Colgin, AM Gown, SD Edland, and RJ Monnat, Jr

Somatic mutations are frequent and increase with age in human kidney epithelial cells
Hum. Mol. Genet. 1996 5: 215-221; doi:10.1093/hmg/5.2.215 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

U Schell, J Wienberg, A Kohler, P Bray-Ward, DE Ward, WG Wilson, WP Allen, RR Lebel, JR Sawyer, PL Campbell, DJ Aughton, HH Punnett, EJ Lammer, FT Kao, DC Ward, and M Muenke

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21
Hum. Mol. Genet. 1996 5: 223-229; doi:10.1093/hmg/5.2.223 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Kivirikko, JA McGrath, L Pulkkinen, J Uitto, and AM Christiano

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
Hum. Mol. Genet. 1996 5: 231-237; doi:10.1093/hmg/5.2.231 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

LH Reid, A West, DG Gioeli, KK Phillips, KF Kelleher, D Araujo, EJ Stanbridge, SF Dowdy, DS Gerhard, and BE Weissman

Localization of a tumor suppressor gene in 11p15.5 using the G401 Wilms' tumor assay
Hum. Mol. Genet. 1996 5: 239-247; doi:10.1093/hmg/5.2.239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

PJ Wilson, V Ramesh, A Kristiansen, C Bove, S Jozwiak, DJ Kwiatkowski, MP Short, and JL Haines

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients
Hum. Mol. Genet. 1996 5: 249-256; doi:10.1093/hmg/5.2.249 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Velasco, C Valero, A Valero, F Moreno, and C Hernandez-Chico

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype [published erratum appears in Hum Mol Genet 1996 May;5(5):710]
Hum. Mol. Genet. 1996 5: 257-263; doi:10.1093/hmg/5.2.257 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CL Bevan, BB Brown, HR Davies, BA Evans, IA Hughes, and MN Patterson

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome
Hum. Mol. Genet. 1996 5: 265-273; doi:10.1093/hmg/5.2.265 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Chakrabarti, SJ Knight, AV Flannery, and KE Davies

A candidate gene for mild mental handicap at the FRAXE fragile site
Hum. Mol. Genet. 1996 5: 275-282; doi:10.1093/hmg/5.2.275 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JB de Haan, F Cristiano, R Iannello, C Bladier, MJ Kelner, and I Kola

Elevation in the ratio of Cu/Zn-superoxide dismutase to glutathione peroxidase activity induces features of cellular senescence and this effect is mediated by hydrogen peroxide
Hum. Mol. Genet. 1996 5: 283-292; doi:10.1093/hmg/5.2.283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SS Strautnieks, RJ Thompson, A Hanukoglu, MJ Dillon, I Hanukoglu, U Kuhnle, J Seckl, RM Gardiner, and E Chung

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2- 13.11 and 12p13.1-pter by homozygosity mapping
Hum. Mol. Genet. 1996 5: 293-299; doi:10.1093/hmg/5.2.293 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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