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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: LITE: Human Molecular Genetics 06:04 (April 1997 issue)
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Mon, 24 Feb 1997 13:58:40 +0100

==========================================
Human Molecular Genetics - ISSN 1964-6906
Volume 6, No 4
April 1997
==========================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
==========================================
CONTENTS
==========================================

NOTES:

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:-

http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/


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:-

http://www.oup.co.uk/hmg/

        and click on "Contents and Abstracts of Current
        Issues"

=============================================


ARTICLE

        L A Clarke, C S Russell, S Pownall, C L Warrington, A Borowski, J
        E Dimmick, J Toone and F R Jirik

Murine mucopolysaccharidosis type I: targeted disruption of the murine
alpha-L-iduronidase gene  P. 503


REPORTS

        E N Burright, J D Davidson, L A Duvick, B Koshy, H Y Zoghbi and
        H T Orr

Identification of a self-association region within the SCA1 gene product,
ataxin-1  P. 513


        R A Montgomery and H C Dietz

Inhibition of fibrillin-1 expression using U1 snRNA as  a vehicle for the
presentation of antisense targeting sequence  P. 519


        A E O Trezise, R Ratcliff, T E Hawkins, M J Evans, T C Freeman,
        P R Romano, C F Higgins and W H Colledge

Co-ordinate regulation of the cystic fibrosis and multidrug resistance genes in
cystic fibrosis knockout mice  P. 527


        P S N Rowe, C L Oudet, F Francis, C Sinding, S Pannetier, M J
        Econs, T M Strom, T Meitinger, M Garabedian, A David, M-A
        Macher, E Questiaux, E Popowska, E Pronicka, A P Read, A
        Mokrzycki, F H Glorieux, M K Drezner, A Hanauer, H Lehrach, J N
        Goulding and J L H O'Riordan

Distribution of mutations in the PEX gene in families with X-linked
hypophosphataemic rickets  P. 539


        M F Moffatt and W O C M Cookson

Tumour Necrosis Factor haplotypes and asthma  P. 551


        M E Ross, K M Allen, A K Srivastava, T Featherstone, J G Gleeson,
        B Hirsch, B N Harding, E Andermann, R Abdullah, M Berg, D
        Czapansky-Bielman, D J Flanders, R Guerrini, J Motte, A P Mira, I
        Scheffer, S Berkovic, F Scaravilli, R A King, D H Ledbetter, D
        Schlessinger, W B Dobyns and C A Walsh

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a
gene causing neuronal migration defects in human brain  P. 555


        A Nystuen, H Costeff, O N Elpeleg, N Apter, B Bonne-Tamir, H
        Mohrenweiser, N Haider, E M Stone and V C Sheffield

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria
type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3'
untranslated region of the myotonic dystrophy protein kinase gene  P. 563


        J Nakae, T Tajima, T Sugawara, F Arakane, K Hanaki, T Hotsubo,
        N Igarashi, Y Igarashi, T Ishii, N Koda, T Kondo, H Kohno, Y
        Nakagawa, K Tachibana, Y Takeshima, K Tsubouchi, J F Strauss III
        and K Fujieda

Analysis of the steroidogenic acute regulatory protein (StAR) gene in
Japanese patients with congenital lipoid adrenal hyperplasia  P. 571


        T Arinami, M Gao, H Hamaguchi and M Toru

A functional polymorphism in the promoter region of the dopamine D2
receptor gene is associated with schizophrenia  P. 577


        M Vaxillaire, M Rouard, K Yamagata, N Oda, P J Kaisaki, V V
        Boriraj, J-C Chevre, V Boccio, R D Cox, G M Lathrop, P Dussoix, J
        Philippe, J Timsit, G Charpentier, G Velho, G I Bell and P Froguel

Identification of nine novel mutations in the hepatocyte nuclear factor 1
alpha gene associated with maturity-onset diabetes of the young (MODY3)  P. 583


        W Hoppner and M M Ritter

A duplication of 12 bp in the critical cysteine rich domain of the RET
proto-oncogene results in a distinct phenotype of multiple endocrine
neoplasia type 2A  P. 587


        J D Sharp, R B Wheeler, B D Lake, M Savukoski, I E Jarvela, L
        Peltonen, R M Gardiner and R E Williams

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis
map to chromosomes 11p15 and 15q21-23  P. 591


        R E Kelsell, K Evans, C Y Gregory, A T Moore, A C Bird and D M
        Hunt

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to
chromosome 17p  P. 597


        V Nigro, Y Okazaki, A Belsito, G Piluso, Y Matsuda, L Politano, G
        Nigro, C Ventura, C Abbondanza, A M Molinari, D Acompara, M
        Nishimura, Y Hayashizaki and G A Puca

Identification of the Syrian hamster cardiomyopathy gene  P. 601


        M-T Bihoreau, I Ceccherini, J Browne, B Kranzlin, G Romeo, G M
        Lathrop, M R James and N Gretz

Location of the first genetic locus, PKDr1, controlling autosomal dominant
polycystic kidney disease in Han:SPRD cy/+ rat  P. 609


        V Tiranti, A Savoia, F Forti, M-F D'Apolito, M Centra, M Rocchi
        and M Zeviani

Identification of the gene encoding the human mitochondrial RNA
polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence
Tags database  P. 615


        K Lagerstedt, S L Karsten, B-M Carlberg, W J Kleijer, T Tonnesen,
        U Pettersson and M-L Bondeson

Double-strand breaks may initiate the inversion mutation causing the Hunter
syndrome  P. 627


        K Christodoulou, M Tsingis, F Deymeer, P Serdaroglu, C Ozdemir,
        A Al-Shehab, C Bairactaris, I Mavromatis, I Mylonas, A Evoli, K
        Kyriallis and L T Middleton

Mapping of the familial infantile myasthenia (congenital myasthenic
syndrome type 1a) gene to chromosome 17p with evidence of genetic
homogeneity  P. 635


        I Stoilov, A N Akarsu and M Sarfarazi

Identification of three different truncating mutations in cytochrome P4501B1
(CYP1B1) as the principal cause of primary congenital glaucoma
(Buphthalmos) in families linked to the GLC3A locus on 2p21  P. 641


===========================================

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 April 1997 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 March 1997.  If you would like further
details about Human Molecular Genetics, including details of
subscription rates, please contact:-

Journals Subscriptions Department
Oxford University Press
Great Clarendon Street
Oxford  OX2 6DP
United Kingdom
Tel: +44 1865 267907
Fax: +44 1865 267485
E-mail: jnl.info@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.




12/02/97 April issue page 4
************************************************************************
Dr. Arthur A.B. Bergen
Department of Ophthalmogenetics
The Netherlands Ophthalmic Research Institute (IOI)
Royal Academy of Sciences of the Netherlands (KNAW)

** Snail-mail: **           ** FAX: **             ** E-mail: **

P.O.Box 12141               (+31)206916521         A.Bergen@IOI.KNAW.NL
1100 AC  Amsterdam
The Netherlands
************************************************************************


   
 
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