Human Molecular Genetics

REVIEWS:

A Chakravarti

Endothelin receptor-mediated signaling in hirschsprung disease
Hum. Mol. Genet. 1996 5: 303-307. [Request Permissions]  

ARTICLES:

NC Cheng, AJ Chan, MM Beitsma, F Speleman, A Westerveld, and R Versteeg

A human modifier of methylation for class I HLA genes (MEMO-1) maps to chromosomal bands 1p35-36.1
Hum. Mol. Genet. 1996 5: 309-317; doi:10.1093/hmg/5.3.309 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

EE Eichler, JN Macpherson, A Murray, PA Jacobs, A Chakravarti, and DL Nelson

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
Hum. Mol. Genet. 1996 5: 319-330; doi:10.1093/hmg/5.3.319 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

TL Kelson, T Ohura, and JP Kraus

Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli
Hum. Mol. Genet. 1996 5: 331-337; doi:10.1093/hmg/5.3.331 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Gyapay, K Schmitt, C Fizames, H Jones, N Vega-Czarny, D Spillett, D Muselet, JF Prud'Homme, C Dib, C Auffray, J Morissette, J Weissenbach, and PN Goodfellow

A radiation hybrid map of the human genome
Hum. Mol. Genet. 1996 5: 339-346; doi:10.1093/hmg/5.3.339 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

T Kusafuka, Y Wang, and P Puri

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease
Hum. Mol. Genet. 1996 5: 347-349; doi:10.1093/hmg/5.3.347 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A Auricchio, G Casari, A Staiano, and A Ballabio

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
Hum. Mol. Genet. 1996 5: 351-354; doi:10.1093/hmg/5.3.351 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Amiel, T Attie, D Jan, A Pelet, P Edery, C Bidaud, D Lacombe, P Tam, J Simeoni, E Flori, C Nihoul-Fekete, A Munnich, and S Lyonnet

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
Hum. Mol. Genet. 1996 5: 355-357; doi:10.1093/hmg/5.3.355 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CH Wang, J Xu, TA Carter, BM Ross, MK Dominski, CA Bellcross, GK Penchaszadeh, TL Munsat, and TC Gilliam

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy
Hum. Mol. Genet. 1996 5: 359-365; doi:10.1093/hmg/5.3.359 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Konrad, S Saunier, L Heidet, F Silbermann, F Benessy, J Calado, D Le Paslier, M Broyer, MC Gubler, and C Antignac

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
Hum. Mol. Genet. 1996 5: 367-371; doi:10.1093/hmg/5.3.367 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Yanagisawa, K Fujii, S Nagafuchi, Y Nakahori, Y Nakagome, A Akane, M Nakamura, A Sano, O Komure, I Kondo, DK Jin, SA Sorensen, NT Potter, SR Young, K Nakamura, N Nukina, Y Nagao, K Tadokoro, T Okuyama, T Miyashita, T Inoue, I Kanazawa, and M Yamada

A unique origin and multistep process for the generation of expanded DRPLA triplet repeats
Hum. Mol. Genet. 1996 5: 373-379; doi:10.1093/hmg/5.3.373 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M Gossen, I Schmitt, K Obst, P Wahle, JT Epplen, and O Riess

cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene
Hum. Mol. Genet. 1996 5: 381-389; doi:10.1093/hmg/5.3.381 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Carrel, CM Clemson, JM Dunn, AP Miller, PA Hunt, JB Lawrence, and HF Willard

X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse
Hum. Mol. Genet. 1996 5: 391-401; doi:10.1093/hmg/5.3.391 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

O Bandmann, TG Nygaard, R Surtees, CD Marsden, NW Wood, and AE Harding

Dopa-responsive dystonia in British patients: new mutations of the GTP- cyclohydrolase I gene and evidence for genetic heterogeneity
Hum. Mol. Genet. 1996 5: 403-406; doi:10.1093/hmg/5.3.403 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC Deybach, H Puy, AM Robreau, J Lamoril, V Da Silva, B Grandchamp, and Y Nordmann

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria
Hum. Mol. Genet. 1996 5: 407-410; doi:10.1093/hmg/5.3.407 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RG Gregg, C Palmer, S Kirkpatrick, and A Simantel

Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24
Hum. Mol. Genet. 1996 5: 411-414; doi:10.1093/hmg/5.3.411 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Berry, AC Ionides, AT Moore, C Plant, SS Bhattacharya, and A Shiels

A locus for autosomal dominant anterior polar cataract on chromosome 17p
Hum. Mol. Genet. 1996 5: 415-419; doi:10.1093/hmg/5.3.415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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