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  Bergen (ioi): LITE: Human Molecular Genetics 06:01 (Januari 1997 issue)  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics 06:01 (Januari 1997 issue)
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Mon, 2 Dec 1996 14:10:30 +0100

==========================================
Human Molecular Genetics - ISSN 1964-6906
Volume 6, No 1
January 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"

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

ARTICLES

        J R Vermeesch, P Petit, A Kermouni, J-C Renauld, H Van Den
        Berghe and P Marynen

The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region,
has an autosomal origin, escapes X inactivation and is expressed from the
Y   P. 1


        V Regnier, M Meddeb, G Lecointre, F Richard, A Duverger, V
        C Nguyen, B Dutrillaux, A Bernheim and G Danglot

Emergence and scattering of multiple neurofibromatosis (NF1)-related
sequences during hominoid evolution suggest a process of
pericentromeric interchromosomal transposition  P. 9


        International Collaborative Study Group for Bartter-like
        Syndromes, consisting of Group 1: L Karolyi, M Konrad, A
        Kockerling, A Ziegler, D K Zimmermann, B Roth, C Wieg, K-H
        Grzeschik, M C Koch, H W Seyberth; Group 2: R Vargas, L
        Forestier, G Jean, M Deschaux, G F Rizzoni, P Niaudet, C
        Antignac; Group 3: D Feldmann, F Lorridon, E Cougoureux, F
        Laroze, J-L Alessandri, L David, P Saunier, G Deschenes; Group
        4: F Hildebrandt, M Vollmer, W Proesmans, M Brandis; Group
        5: L P W J van den Heuvel, H H Lemmink, W Nillesen, L A H
        Monnens, N V A M Knoers; Group 6: L M Guay-Woodford, C J
        Wright, G Madrigal and S C Hebert.

Mutations in the gene encoding the inwardly-rectifying renal potassium
channel, ROMK, cause the antenatal variant of Bartter syndrome:
evidence for genetic heterogeneity  P. 17


REPORTS

        H Chaib, J Kaplan, S Gerber, C Vincent, H Ayadi, R Slim, A
        Munnich,  J Weissenbach and C Petit

A newly identified locus for Usher syndrome type 1, USH1E, maps to
chromosome 21q21  P. 27


        N Brass, D Heckel, U Sahin, M Pfreundschuh, G W Sybrecht
        and E Meese

Translation initiation factor eIF-4gamma is encoded by an amplified gene
and induces an immune response in squamous cell lung carcinoma  P.33


        C Lalueza, A Perez-Perez, E Prats, L Cornudella and D Turbon

Lack of founding Amerindian mitochondrial DNA lineages in extinct
Aborigines from Tierra del Fuego-Patagonia  P.41


        A C W Ionides, V Berry, D S Mackay, A T Moore, S S
        Bhattacharya and A Shiels

A locus for autosomal dominant posterior polar cataract on chromosome 1p  P. 47


        G Bignell, G Micklem, M R Stratton, A Ashworth and R
        Wooster

The BRC repeats are conserved in mammalian BRCA2 proteins  P.53


        P J Mogayzel, Jr., K A Henning, M L Bittner, E A Novotny, E
        M Schwiebert, W B Guggino, Y Jiang and M A Rosenfeld

Functional human CFTR produced by stable Chinese hamster ovary cell
lines derived using yeast artificial chromosomes  P. 59


        D Broccoli, L Chong, S Oelmann, A A Fernald, N Marziliano, B
        van Steensel, D Kipling, M M Le Beau and T de Lange

Comparison of the human and mouse genes encoding the telomeric
protein, TRF1: chromosomal localization, expression and conserved
protein domains  P. 69


        S Hofferbert, N C Schanen, F Chehab and U Francke

Trinucleotide repeats in the human genome: size distributions for all
possible triplets and detection of expanded disease alleles in a group of
Huntington disease individuals by the Repeat Expansion Detection
method  P. 77


        H Teng, M Jorissen, H Van Poppel, E Legius, J-J Cassiman and
        H Cuppens

Increased proportion of exon 9 alternatively spliced CFTR transcripts in
vas deferens compared with nasal epithelial cells  P. 85


        J Meyer, P Sudbeck, M Held, T Wagner, M Lienhard Schmitz, F
        D Bricarelli, E Eggermont, U Friedrich, O A Haas, A Kobelt, J
        G Leroy, L Van Maldergem, E Michel, B Mitulla, R A Pfeiffer,
        A Schinzel, H Schmidt and G Scherer

Mutational analyis of the SOX9 gene in campomelic dysplasia and
autosomal sex reversal: lack of genotype/phenotype correlations  P. 91


        M Schwartz, N Sorensen, F J Hansen, J M Hertz, S Norby, L
        Tranebjaerg and F Skovby

Quantification, by solid-phase minisequencing, of the telomeric and
centromeric copies of the survival motor neuron gene in families with
spinal muscular atrophy  P. 99


        M G Dunlop, S M Farrington, A D Carothers, A H Wyllie, L
        Sharp, J Burn, B Liu, K W Kinzler and B Vogelstein

Cancer risk associated with germline DNA mismatch repair gene
mutations  P. 105


        G Levy, F Levi-Acobas, S Blanchard, S Gerber, D Larget-Piet,
        V Chenal, X-Z Liu, V Newton, K P Steel, S D M Brown, A
        Munnich, J Kaplan, C Petit and D Weil

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher
syndrome type 1B  P. 111


        V C Sheffield, M E Pierpont, D Nishimura, J S Beck, T L Burns,
        M A Berg, E M Stone, S R Patil and R M Lauer

Identification of a complex congenital heart defect susceptibility locus by
using DNA pooling and shared segment analysis  P. 117


        A Gladwin, D Donnai, K Metcalfe, C Schrander-Stumpel, L
        Brueton, A Verloes, A Aylsworth, H Toriello, R Winter and M
        Dixon

Localisation of a gene for oculodentodigital syndrome to human
chromosome 6q22-q24  P. 123


        A J Jeffreys and R Neumann

Somatic mutation processes at a human minisatellite  P. 129


        M Oldridge, P W Lunt, E H Zackai, D M McDonald-McGinn, M
        Muenke, D M Moloney, S R F Twigg, J K Heath, T D Howard,
        G Hoganson, D M Gagnon, E W Jabs and A O M Wilkie

Genotype-phenotype correlation for nucleotide substitutions in the IgII-
IgIII linker of FGFR2  P. 137


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

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 January 1997 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 December 1996.  If you would like further
details about Human Molecular Genetics, including details of
subscription rates, please contact:-

Marion Tatham
Journals Customer Services
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.


21/11/96 January 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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