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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics 5:4 (preview issue april 1996)
From: "Bergen (ioi)" <A.A.Bergen@AMC.UVA.NL>
Date: Tue, 27 Feb 1996 15:11:39 +0100

==========================================
Human Molecular Genetics - ISSN 1964-6906
Volume 5, No 4
April 1996
==========================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
==========================================
CONTENTS
==========================================

ARTICLES

Characterization of a cluster of sulfatase genes on Xp22.3
suggests gene duplications in an ancestral pseudoautosomal
region  P. 423
        Germana Meroni, Brunella Franco, Nicoletta
        Archidiacono, Silvia Messali, Grazia Andolfi, Mariano
        Rocchi and Andrea Ballabio

Predominance of null mutations in ataxia-telangiectasia P. 433
        Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar
        Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara
        Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik,
        Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora
        Goldwicz, N. G. J. Jaspers, Richard A. Gatti, Gilbert
        Lenoir, Martin F. Lavin, Kouichi Tatsumi, Rolf D.
        Wegner. Yosef Shiloh and Anat Bar-Shira


REPORTS

Transgenic mice carrying an Xist-containing YAC      P. 441
        Edith Heard, Chantal Kress, Fabien Mongelard, Beatrice
        Courtier, Claire Rougeulle, Alan Ashworth, Claire
        Vourch, Charles Babinet and Philip Avner

Xist expression from an Xist YAC transgene carried on the
mouse Y chromosome    P.451
        S. Matsuura, V. Episkopou and S. D. M. Brown

Cloning and characterization of human very-long-chain acyl-
CoA dehydrogenase cDNA, chromosomal assignment of the
gene and identification in four patients of 9 different mutations
within the VLCAD gene    P.461
        Brage Storstein Andresen, Peter Bross, Christine Vianey-
        Saban, Priscille Divry, Marie-Therese Zabot, Charles R.
        Roe, Mohamed A. Nada, Annette Byskov, Torben A.
        Kruse, Soren Neve, Karsten Kristiansen, Inga Knudsen,
        Morten Juhl Corydon and Niels Gregersen

Do sequence variants in the major non-coding region of the
mitochondrial genome influence mitochondrial mutations
associated with disease?    P.473
        David R. Marchington, Joanna Poulton, Anneke Sellar,
        and Ian J. Holt

Partial characterisation of murine huntingtin and apparent
variations in the subcellular localisation of huntingtin in human,
mouse and rat brain    P.481
        Jonathan D. Wood, John C. MacMillan, Peter S. Harper,
        Pedro R. Lowenstein and A. Lesley Jones

Cloning and characterization of the human homologue of a
dystrophin related phosphoprotein found at the Torpedo electric
organ post-synaptic membrane    P.489
        Helene M. Sadoulet-Puccio, Tejvir S. Khurana, Jonathan
        B. Cohen and Louis M. Kunkel

Phenotypic variation in Waardenburg syndrome: mutational
heterogeneity, modifier genes or polygenic background?    P.497
        Arti Pandya, Xia-Juan Xia, Barbara L. Landa, Kathleen
        S. Arnos, Jamie Israel, Joyce Lloyd, Anthony L. James,
        Scott R. Diehl, Susan H. Blanton and Walter E. Nance

Site and sequence specific DNA methylation in the
neurofibromatosis (NF1) gene includes C5839T, the site of the
recurrent substitution mutation in exon 31    P.503
        Joseph D. Andrews, Debora N. Mancini, Shiva M. Singh
        and David I. Rodenhiser

Missense FGFR3 mutations create cysteine residues in
thanatophoric dwarfism type 1 (TD1)    P.509
        F. Rousseau, V. El Ghouzzi, A. L. Delezoide, L. Legeai-
        Mallet, M. Le Merrer, A. Munnich and J. Bonaventure

A murine homologue of the human DAZ gene is autosomal and
expressed only in male and female gonads    P.513
        Howard J. Cooke, Muriel Lee, Shona Kerr and Matteo
        Ruggiu

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19)
Prader-Willi syndrome patient    P.517
        Yongming Sun, Robert D. Nicholls, Merlin G. Butler,
        Shinji Saitoh, Bryan E. Hainline and Catherine G.
        Palmer

A cerebellar ataxia locus identified by DNA pooling to search
for linkage disequilibrium in an isolated population from the
Cayman Islands    P.525
        Arne Nystuen, Paul J. Benke, Joy Merren, Edwin M.
        Stone and Val C. Sheffield

A ubiquitin C-terminal hydrolase gene on the proximal short
arm of the X chromosome: implications for X-linked retinal
disorders    P.533
        Deborah A. Swanson, Carol L. Freund, Lynda Ploder,
        Roderick R.. McInnes and David Valle

A stable nonsense mutation associated with a case of infantile
onset polycystic kidney disease 1 (PKD1)    P.539
        Belen Peral, Albert C. M. Ong, Jose L. San Millan, Vicki
        Gamble, Lesley Rees and Peter C. Harris

LINKAGE REPORTS

The gene responsible for Clouston hidrotic ectodermal dysplasia
maps to the pericentromeric region of chromosome 13q   P.543
        Zoha Kibar, Vazken M. Der Kaloustian, Bernard Brais,
        Valerie Hani, F. Clarke Fraser and Guy A. Rouleau

The hereditary pancreatitis gene maps to long arm of
chromosome 7    P.549
        Louis Le Bodic, Jean-Denis Bignon, Odile Raguenes,
        Bernard Mercier, Thierry Georgelin, Mathieu Schnee,
        Francois Soulard, Katia Gagne, Francoise Bonneville,
        Jean-Yves Muller, Lucien Bachner and Claude Ferec

Mapping of a second locus for lamellar ichthyosis to
chromosome 2q33-35    P.555
        Laurent Parmentier, Hakima Lakhdar, Claudine
        Blanchet-Bardon, Sylvie Marchand, Louis Dubertret and
        Jean Weissenbach


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

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 1996 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 March 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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