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virtual library in human genetics and molecular biology

COMMENTARY

Endothelin receptor-mediated signaling in Hirschsprung
disease
A Chakravarti P.303

ARTICLES

A human modifier of methylation for class I HLA genes
(MEMO-1) maps to chromosomal bands 1p35-36.1
N C Cheng, A J K Chan, M M Beitsma,
F Speleman, A Westerveld and R Versteeg P. 309

Haplotype and interspersion analysis of the FMR1 CGG
repeat identifies two different mutational pathways for the
origin of the fragile X syndrome
E E Eichler, J N Macpherson, A Murray,
P A Jacobs, A Chakravarti and D L Nelson P. 319

Chaperonin-mediated assembly of wild-type and mutant
subunits of human propionyl-CoA carboxylase expressed
in Escherichia coli
T L Kelson, T Ohura and J P Kraus P. 331

A radiation hybrid map of the human genome
G Gyapay, K Schmitt, C Fizames, H Jones,
N Vega-Czarny, D Spillett, D Muselet,
J-F Prud'Homme, C Dib, C Auffray, J Morissette,
J Weissenbach, P N Goodfellow P. 339

REPORTS

Novel mutations of the endothelin-B receptor gene in
isolated patients with Hirschsprung's disease
T Kusafaka, Y Wang and P Puri P. 347

Endothelin-B receptor mutations in patients with isolated
Hirschsprung disease from a non-inbred population
A Auricchio, G Casari, A Staiano and A Ballabio
P. 351

Heterozygous endothelin receptor B (EDNRB) mutations
in isolated Hirschsprung disease
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 P. 355

Characterization of survival motor neuron (SMNT) gene
deletions in asymptomatic carriers of spinal muscular
atrophy
C H Wang, J Xu, T A Carter, B M Ross,
M K Dominski, C A Bellcross, G K Penchaszadeh,
T L Munsat and T C Gilliam P. 359

Large homozygous deletions of the 2q13 region are a
major cause of juvenile nephronophthisis
M Konrad, S Saunier, L Heidet, F Silbermann,
F Benessy, J Calado, D Le Paslier, M Broyer,
M-C Gubler and C Antignac P. 367

A unique origin and multistep process for generation of
expanded DRPLA triplet repeats
H Yanagisawa, K Fujii, S Nagafuchi, Y Nakahori,
Y Nakagome, A Akane, M Nakamura, A Sano,
O Komure, I Kondo, D Kyu Jin, S A Sorensen,
N T Potter, S R Young, K Nakamura, N Nukina,
Y Nagao, K Tadokoro, T Okuyama, T Miyashita,
T Inoue, I Kanazawa and M Yamada P. 373

cDNA cloning and expression of rsca1, the rat counterpart
of the human spinocerebellar ataxia type 1 gene
M Gossen, I Schmitt, K Obst, P Wahle,
J T Epplen and O Riess P. 381

X inactivation analysis and DNA methylation studies of
the ubiquitin activating enzyme E1 and PCTAIRE-1 genes
in human and mouse
L Carrel, C M Clemson, J M Dunn, A P Miller,
P A Hunt, J B Lawrence and H F Willard P. 391

Dopa-responsive dystonia in British patients: new
mutations of the GTP-cyclohydrolase I gene and evidence
for genetic heterogeneity
O Bandmann, T G Nygaard, R Surtees,
C D Marsden, N W Wood and A E Harding P. 403

Mutations in the protoporphyrinogen oxidase gene in
patients with variegate porphyria
J-C Deyback, H Puy, A-M Robreau, J Lamoril,
V Da Silva, B Grandchamp and Y Nordmann P.407

LINKAGE REPORTS

Localization of a non-specific X-linked mental retardation
gene, MRX23, to Xq23-q24
R G Gregg, C Palmer, S Kirkpatrick and
A Simantel P. 411

A locus for autosomal dominant anterior polar cataract on
chromosome 17p
V Berry, A C W Ionides, A T Moore, C Plant,
S S Battacharya and A Shiels P. 415

Human Molecular Genetics is a monthly journal of original
peer-reviewed research, published by Oxford University Press.
In addition to the regular monthly issues, a special review issue,
reviewing important developments in the field, is published each
year.

The papers listed above will appear in the March 1996 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 February 1995. If you would like further
details about Human Molecular Genetics, including details of
subscription rates, please contact:-

Richard Gedye
Oxford University Press
Walton Street
Oxford OX2 6DP
United Kingdom
Tel: +44 1865 267785
Fax: +44 1865 267782
E-Mail: gedyer@oup.co.uk

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