Human Molecular Genetics

ARTICLES:

G Meroni, B Franco, N Archidiacono, S Messali, G Andolfi, M Rocchi, and A Ballabio

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region
Hum. Mol. Genet. 1996 5: 423-431; doi:10.1093/hmg/5.4.423 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Gilad, R Khosravi, D Shkedy, T Uziel, Y Ziv, K Savitsky, G Rotman, S Smith, L Chessa, TJ Jorgensen, R Harnik, M Frydman, O Sanal, S Portnoi, Z Goldwicz, NG Jaspers, RA Gatti, G Lenoir, MF Lavin, K Tatsumi, RD Wegner, Y Shiloh, and A Bar-Shira

Predominance of null mutations in ataxia-telangiectasia
Hum. Mol. Genet. 1996 5: 433-439; doi:10.1093/hmg/5.4.433 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E Heard, C Kress, F Mongelard, B Courtier, C Rougeulle, A Ashworth, C Vourc'h, C Babinet, and P Avner

Transgenic mice carrying an Xist-containing YAC
Hum. Mol. Genet. 1996 5: 441-450; doi:10.1093/hmg/5.4.441 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Matsuura, V Episkopou, R Hamvas, and SD Brown

Xist expression from an Xist YAC transgene carried on the mouse Y chromosome
Hum. Mol. Genet. 1996 5: 451-459; doi:10.1093/hmg/5.4.451 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

BS Andresen, P Bross, C Vianey-Saban, P Divry, MT Zabot, CR Roe, MA Nada, A Byskov, TA Kruse, S Neve, K Kristiansen, I Knudsen, MJ Corydon, and N Gregersen

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]
Hum. Mol. Genet. 1996 5: 461-472; doi:10.1093/hmg/5.4.461 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DR Marchington, J Poulton, A Sellar, and IJ Holt

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?
Hum. Mol. Genet. 1996 5: 473-479; doi:10.1093/hmg/5.4.473 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JD Wood, JC MacMillan, PS Harper, PR Lowenstein, and AL Jones

Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain
Hum. Mol. Genet. 1996 5: 481-487; doi:10.1093/hmg/5.4.481 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HM Sadoulet-Puccio, TS Khurana, JB Cohen, and LM Kunkel

Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post- synaptic membrane
Hum. Mol. Genet. 1996 5: 489-496; doi:10.1093/hmg/5.4.489 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Pandya, XJ Xia, BL Landa, KS Arnos, J Israel, J Lloyd, AL James, SR Diehl, SH Blanton, and WE Nance

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
Hum. Mol. Genet. 1996 5: 497-502; doi:10.1093/hmg/5.4.497 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JD Andrews, DN Mancini, SM Singh, and DI Rodenhiser

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31
Hum. Mol. Genet. 1996 5: 503-507; doi:10.1093/hmg/5.4.503 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Rousseau, V el Ghouzzi, AL Delezoide, L Legeai-Mallet, M Le Merrer, A Munnich, and J Bonaventure

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
Hum. Mol. Genet. 1996 5: 509-512; doi:10.1093/hmg/5.4.509 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

HJ Cooke, M Lee, S Kerr, and M Ruggiu

A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads
Hum. Mol. Genet. 1996 5: 513-516; doi:10.1093/hmg/5.4.513 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Y Sun, RD Nicholls, MG Butler, S Saitoh, BE Hainline, and CG Palmer

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
Hum. Mol. Genet. 1996 5: 517-524; doi:10.1093/hmg/5.4.517 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Nystuen, PJ Benke, J Merren, EM Stone, and VC Sheffield

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
Hum. Mol. Genet. 1996 5: 525-531; doi:10.1093/hmg/5.4.525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DA Swanson, CL Freund, L Ploder, RR McInnes, and D Valle

A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders
Hum. Mol. Genet. 1996 5: 533-538; doi:10.1093/hmg/5.4.533 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Peral, AC Ong, JL San Millan, V Gamble, L Rees, and PC Harris

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1)
Hum. Mol. Genet. 1996 5: 539-542; doi:10.1093/hmg/5.4.539 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Z Kibar, VM Der Kaloustian, B Brais, V Hani, FC Fraser, and GA Rouleau

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q
Hum. Mol. Genet. 1996 5: 543-547; doi:10.1093/hmg/5.4.543 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Le Bodic, JD Bignon, O Raguenes, B Mercier, T Georgelin, M Schnee, F Soulard, K Gagne, F Bonneville, JY Muller, L Bachner, and C Ferec

The hereditary pancreatitis gene maps to long arm of chromosome 7
Hum. Mol. Genet. 1996 5: 549-554; doi:10.1093/hmg/5.4.549 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Parmentier, H Lakhdar, C Blanchet-Bardon, S Marchand, L Dubertret, and J Weissenbach

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35 [published erratum appears in Hum Mol Genet 1996 Jun;5(6):862-3]
Hum. Mol. Genet. 1996 5: 555-559; doi:10.1093/hmg/5.4.555 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

MM Maheshwar, R Sandford, M Nellist, JP Cheadle, B Sgotto, M Vaudin, and JR Sampson

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish
Hum. Mol. Genet. 1996 5: 562. [Request Permissions]  

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