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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: LITE: HMG TOC JAN 98
From: Arthur Bergen <a.bergen@ioi.knaw.nl>
Date: Tue, 2 Dec 1997 10:05:14 MET
Organization: ioi.knaw.nl
Priority: normal

============================================
Human Molecular Genetics - ISSN 1964-6906
Volume 7, No 1
January 1998
============================================
Executive Editors:-
K E Davies, Oxford, UK
Huntingdon 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"

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

Reconstructing hominid Y evolution: X-homologous
block, created by X-Y transposition, was disrupted
by Yp inversion through LINE-LINE recombination
p. 1.
  A. Schwartz, D.C. Chan, L.G. Brown,
  R. Alagappan, D. Pettay, C. Disteche,
  B. McGillivray, A. de la Chapelle and
  D.C. Page.


Members of the olfactory receptor gene family are
contained in large blocks of DNA duplicated
polymorphically near the ends of human
chromosomes p. 13.
  B.J. Trask, C. Friedman,
  A. Martin-Gallardo, L. Rowen,
  C. Akinbami, J. Blankenship, C. Collins,
  D. Giorgi, S. Iadonato, F. Johnson,
  W-L. Kuo, H. Massa, T. Morrish,
  S. Naylor, O.T.H. Nguyen, S. Rouquier,
  T. Smith, D.J. Wong, J. Youngblom and
  G. van den Engh.


A genome scan for loci influencing total serum
immunoglobulin levels: possible linkage of IgA
to the chromosome 13 atopy locus p. 27.
  S. Wiltshire, S. Bhattacharyya,
  J.A. Faux, N.I. Leaves, S.E. Daniels,
  M.F. Moffatt, A. James, A.W. Musk
  and W.O.C.M. Cookson.


Exhaustive scanning approach to screen all the
mitochondrial tRNA genes for mutations and its
application to the investigation of 35 independent
patients with mitochondrial disorders p. 33.
  D. Sternberg, C. Danan, A. Lombes,
  P. Laforet, E. Girodon, M. Goossens
  and S. Amselem.


Estimation of the genetic contribution of
presenilin-1 and -2 mutations in a population-
based study of presenile Alzheimer disease p. 43.
  M. Cruts, C.M. van Duijn,
  H. Backhovens, M. Van den Broeck,
  A. Wehnert, S. Serneels, R. Sherrington,
  M. Hutton, J. Hardy, P.H. St George-
  Hyslop, A. Hofman and
  C. Van Broeckhoven.


Generalized glycogen storage and cardiomegaly in
a knockout mouse model of Pompe disease p. 53
  A.G.A. Bijvoet, E.H.M van de Kamp,
  M.A. Kroos, J-H. Ding, B.Z. Yang,
  P. Visser, C.E. Bakker, M.Ph. Verbeet,
  B.A. Oostra, A.J.J. Reuser and A.T. van
  der Ploeg.


Evidence for a novel gene for familial febrile
convulsions, FEB2, linked to chromosome 19p in
an extended family from the Midwest p. 63.
  E.W. Johnson, J. Dubovsky, S.S. Rich,
  C.A. O'Donovan, H.T. Orr, V.E. Anderson,
  A. Gil-Nagel, P. Ahmann, C.G. Dokken,
  D.T. Schneider and J.L. Weber.


Expansions of CAG repeat tracts are frequent in a
yeast mutant defective in Okazaki fragment
maturation p.69.
  J.K. Schweitzer and D.M. Livingston.


Human beta-mannosidase cDNA characterization
and first identification of a mutation associated
with human beta-mannosidosis p.75.
  A.H. Alkhayat, S.A. Kraemer,
  J.R. Leipprandt, M. Macek, W.J. Kleijer
  and K.H. Friderici.


Biosynthesis and intracellular targeting of the
CLN3 protein defective in Batten disease p.85.
  I. Jarvela, M. Sainio, T. Rantamaki,
  V.M. Olkkonen, O. Carpen, L. Peltonen
  and A. Jalanko.


The mouse H19 locus mediates a transition
between imprinted and non-imprinted DNA
replication patterns p. 91.
  J.M. Greally, D.J. Starr, S. Hwang,
  L. Song, M. Jaarola and S. Zemel.


Characterisation of the coding sequence and fine
mapping of the human DFFRY gene and
comparative expression analysis and mapping to
the Sxrb interval of the mouse Y chromosome of
the Dffry gene p. 97.
  G.M. Brown, R.A. Furlong, C.A. Sargent,
  R.P. Erickson, G. Longepied, M. Mitchell,
  M.H. Jones, T.B. Hargreave, H.J. Cooke
  and N.A. Affara.


In vitro reactivation of the FMR1 gene involved in
fragile X syndrome p. 109.
  P. Chiurazzi, M.G. Pomponi,
  R. Willemsen, B.A. Oostra and G. Neri.


Cloning of the cDNA and gene encoding mouse
lysosomal sialidase and correction of sialidase
deficiency in human sialidosis and mouse SM/J
fibroblasts p.115.
  S.A. Igdoura, C. Gafuik, C. Mertineit,
  F. Saberi, A.V. Pshezhetsky, M. Potier,
  J.M. Trasler and R.A. Gravel.


Truncated forms of the androgen receptor are
associated with polyglutamine expansion in
X-linked spinal and bulbar muscular atrophy
p. 121.
  R. Butler, P.N. Leigh, M.J. McPhaul and
  J-M. Gallo.


Hirschsprung disease in MEN 2A: increased
spectrum of RET exon 10 genotypes and strong
genotype-phenotype correlation p. 129.
  R.A. Decker, M.L. Peacock and
  P. Watson.


Emerin deletions occurring on both Xq28 inversion
backgrounds p. 135.
  K. Small and S.T. Warren.


Fine mapping of de novo CMT1A and HNPP
rearrangements within CMT1A-REPs evidences
two distinct sex-dependent mechanisms and
candidate sequences involved in recombination
p. 141.
  J. Lopes, N. Ravise, A. Vandenberghe,
  F. Palau, V. Ionasescu, M. Mayer,
  N. Levy, N. Wood, N. Tachi,
  P. Bouche, P. Latour, M. Ruberg,
  A. Brice and E. LeGuern.


Liver glycogenosis due to phosphorylase kinase
deficiency: PHKG2 gene structure and mutations
associated with cirrhosis p. 149.
  B. Burwinkel, S. Shiomi, A.A. Zaben and
  M.W. Kilimann.


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

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 1998 issue, which is shortly to be printed.
Copies are scheduled for despatch to subscribers
on 18 December 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.orders@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.






************************************************************************
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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