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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics -- October 1996 issue
From: "Bergen (ioi)" <A.A.Bergen@AMC.UVA.NL>
Date: Tue, 3 Sep 1996 16:41:26 +0200

Human Molecular Genetics - ISSN 1964-6906
Volume 5, No 10
October 1996
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA


1. Tables of contents for Human Molecular Genetics from
May 1995 to the latest issue can be found on the
HUM-MOLGEN web site at:-


2.     Abstracts for the papers listed below will shortly be
        available at the Oxford University Press World Wide
        Web site. Simply go to the Human Molecular Genetics home
        page at:-


        and click on "Contents and Abstracts of Current



        A A J Migchielsen, M L Breuer, M S Hershfield and
        D Valerio

Full genetic rescue of adenosine-deaminase-deficient mice
through introduction of the human gene  P. 1523

        A J Gladwin, J Dixon, S K Loftus, S Edwards, J J
        Wasmuth, R C M Hennekam and M J Dixon

Treacher Collins syndrome may result from insertions,
deletions or splicing mutations which introduce a termination
codon into the gene  P. 1533

        L Pulkkinen, F J D Smith, H Shimizu, S Murata, H
        Yaoita, H Hachisuka, T Nishikawa, W H I McLean
        and J Uitto

Homozygous deletion mutations in the plectin gene (PLEC1)
in patients with epidermolysis bullosa simplex associated
with late-onset muscular dystrophy  P. 1539

        W Wuyts, W Van Hul, J Wauters, M Nemtsova, E
        Reyniers, E Van Hul, K De Boulle, B B A de Vries, J
        Hendrickx, I Herrygers, P Bossuyt, W Balemans, E
        Fransen, L Vits, P Coucke, N J Nowack, T B Shows,
        L Mallet, A M W van den Ouweland, J McGaughran,
        D J J Halley and P J Willems

Positional cloning of a gene involved in hereditary multiple
exostoses  P. 1547


        C N Tennyson, G Y Dally, P N Ray and R G Worton

Expression of the dystrophin isoform Dp71 in differentiating
human fetal myogenic cultures  P. 1559

        S T Winokur, U Bengtsson, J C Vargas, J J Wasmuth
        and M R Altherr

The evolutionary distribution and structural organization of
the homeobox-containing repeat D4Z4 indicates a functional
role for the ancestral copy in the FSHD region  P.1567

        T Iwashita, H Murakami, N Asai and M Takahashi

Mechanism of Ret dysfunction by Hirschsprung mutations
affecting its extracellular domain  P.1577

        W Liu, C Qian, K Comeau, T Brenn, H Furthmayr
        and U Francke

Mutant fibrillin-1 monomers lacking EGF-like domains
disrupt microfibril assembly and cause severe Marfan
syndrome  P.1581

        S L Bressler, M D Gray, B L Sopher, Q Hu, M G
        Hearn, D G Pham, M B Dinulos, K-I Fukuchi, S S
        Sisodia, M A Miller, C M Disteche and G M Martin

cDNA cloning and chromosome mapping of the human Fe65
gene: interaction of the conserved cytoplasmic domains of the
human beta-amyloid precursor protein and its homologues
with the mouse Fe65 protein  P.1589

        H J Klamut, L O Bosnoyan-Collins, R G Worton, P N
        Ray and H L Davis

Identification of a transcriptional enhancer within muscle
intron 1 of the human dystrophin gene  P.1599

        S J Engle, D E Womer, P M Davies, G Boivin, A
        Sahota, H A Simmonds, P J Stambrook and J A

HPRT-APRT deficient mice are not a model for Lesch-
Nyhan syndrome  P. 1607

        F Pagani, R Garcia, R Pariyarath, C Stuani, B
        Gridelli, G Paone and F E Baralle

Expression of lysosomal acid lipase mutants detected in three
patients with cholesteryl ester storage disease  P.1611

        M B Theophilos, D W Cox and J F B Mercer

The toxic milk mouse is a murine model of Wilson disease  P. 1619

        F J Cameron, R M Hageman, C Cooke-Yarborough,
        C Kwok, L L Goodwin, D O Sillence and A H

A novel germ line mutation in SOX9 causes familial
campomelic dysplasia and sex reversal  P. 1625

        P R Fain, E N Kort, C Yousry, M R James and M Litt

A high resolution CEPH crossover mapping panel and
integrated map of chromosome 11  P. 1631

        J-L Berge-Lefranc, P Jay, A Massacrier, P Cau, M G
        Mattei, S Bauer, C Marsollier, P Berta and M Fontes

Characterization of the human jumonji gene  P. 1637

        M M Lanterman, J R Dickinson and D J Danner

Functional analysis in Saccharomyces cerevisiae of naturally
occurring amino acid substitutions in human
dihydrolipoamide dehydrogenase  P. 1643

        R Allikmets, B Gerrard, A Hutchinson and M Dean

Characterization of the human ABC superfamily: isolation
and mapping of 21 new genes using the Expressed Sequence
Tags database  P. 1649

        R J Pomponio, V Narasimhan, T R Reynolds, G A
        Buck, L F Povirk and B Wolf

Deletion/insertion mutation that causes biotinidase deficiency
may result from the formation of a quasipalindromic structure
P. 1657

        P Valverde, E Healy, S Sikkink, F Haldane, A J
        Thody, A Carothers, I J Jackson and J L Rees

The Asp84Glu variant of the melanocortin 1 receptor (MC1R)
is associated with melanoma  P. 1663


        A M Shearman, T J Hudson, J M Andresen, X Wu, R
        L Sohn, F Haluska, D E Housman and J S Weiss

The gene for Schnyder's crystalline corneal dystrophy maps
to chromosome 1p34.1-p36  P. 1667

        B Leube, D Rudnicki, T Ratzlaff, K R Kessler, R
        Benecke and G Auburger

Idiopathic torsion dystonia: assignment of a gene to
chromosome 18p in a German family with adult onset,
autosomal dominant inheritance and purely focal distribution
P. 1673

        J D Ohmen, H-Y Yang, K K Yamamoto, H-Y Zhao,
        Y Ma, L G Bentley, Z Huang, S Gerwehr, S
        Pressman, C McElree, S Targan, J I Rotter and N

Susceptibility locus for inflammatory bowel disease on
chromosome 16 has a role in Crohn's disease, but not in
ulcerative colitis  P. 1679

        E LeGuern, A Guilbot, M Kessali, N Ravise, J Tassin,
        T Maisonobe, D Grid and A Brice

Homozygosity mapping of an autosomal recessive form of
demyelinating Charcot-Marie-Tooth disease to
chromosome 5q23-q33  P. 1685

        S Wayne, V M Der Kaloustian, M Schloss, R
        Polomeno, D A Scott, J F Hejtmancik, V C Sheffield
        and R J H Smith

Localization of the Usher Syndrome type ID gene (Ush1D) to
chromosome 10  P. 1689


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

The papers listed above will appear in the October 1996 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 September 1996.  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

Copyright in the table of contents listed above is held by
Oxford University Press, but you are welcome to circulate
them further, provided that Oxford University Press is
credited as publisher and copyright holder.

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