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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics - May 1995 contents
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Thu, 13 Apr 1995 15:25:38 +0100

=====================================================================
Human Molecular Genetics - ISSN 1964-6906
Volume 4, No 5
MAY 1995
=====================================================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
=====================================================================
CONTENTS
=====================================================================

ARTICLES

A heterogeneous set of FMR1 proteins is widely distributed in mouse
tissues and is modulated in cell culture
     E W Khandjian, A Fortin, A Thibodeau, S Tremblay,
     F Cote, D Devys, J-L Mandel and F Rousseau                 P.783

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional
repressors cloned from the DiGeorge syndrome critical region
     V Lamour, Y Lecluse, C Desmaze, M Spector, M Bodescot,
     A Aurias, M A Osley and M Lipinski                         P.791

Sex-specific meiotic recombination in the Prader-Willi/Angelman
syndrome imprinted region
     W P Robinson and M Lalande                                 P.801

Molecular features of the CAG repeats and clinical manifestation of
Machado-Joseph disease
     H Maruyama, S Nakamura, Z Matsuyama, T Sakai, M Doyu,
     G Sobue, M Seto, M Tsujihata, T Oh-i, T Nishio, N Sunohara,
     R Takahashi, M Hayashi, I Nishino, T Ohtake, T Oda,
     M Nishimura, T Saida, H Matsumoto, M Baba, Y Kawaguchi,
     A Kakizuka and H Kawakami                                  P.807

Reverse replication timing for the XIST gene in human fibroblasts
     R S Hansen, T K Canfield, and S M Gartler                  P.813

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung
disease
     M Angrist, S Bolk, B Thiel, E G Puffenberger, R M Hofstra,
     C H C M Buys, D T Cass and A Chakravarti                   P.821

High resolution DNA Fiber-FISH for genomic DNA mapping and colour
bar-coding of large genes
     R J Florijn, L A J Bonden, H Vrolijk, J Wiegant,
     J-W Vaandrager, F Baas, J T den Dunnen, H J Tanke,
     G-J B van Ommen and A K Raap                               P.831

A novel dystrophin isoform is required for normal retinal
electrophysiology
     V N D'Souza, N thi Man, G E Morris, W Karges,
     D-A M Pillers and P N Ray                                  P.837

Structural organisation and developmental expression pattern of the
mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic
dystrophy locus
     G Jansen, D Bachner, M Coerwinkel, N Wormskamp, H Hameister
     and B Wieringa                                             P.843


REPORTS

No evidence that common allelic variation in the Amyloid Precursor
Protein (APP) gene confers susceptibility to Alzheimer's disease
     M B Liddell, A J Bayer and M J Owen                        P.853

The human Y chromosome homologue of XG: transcription of a naturally
truncated gene
     P A Weller, R Critcher, P N Goodfellow, J German
     and N A Ellis                                              P.859

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology
and is a site of chromosomal instability
     A Klink, K Schiebel, M Winkelmann, E Rao, B Horsthemke,
     H-J Ludecke, U Claussen, G Scherer and G Rappold           P.869

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM
region on chromosome 11p15.1 and demonstration of a founder effect in
Ashkenazi Jews
     B Glaser, K C Chiu, L Liu, R Anker, A Nestorowicz,
     N J Cox, H Landau, N Kaiser, P S Thornton, C A Stanley,
     E Cerasi, L Baker, H Donis-Keller and M A Permutt          P.879

The distribution of linkage disequilibrium over anonymous genome
regions
     A C Peterson, A Di Rienzo, A-E Lehesjoki, A de la Chappelle,
     M Slatkin and N B Freimer                                  P.887

Characterization of FMR1 proteins isolated from different tissues
     C Verheij, E de Graff, C E Bakker, R Willemsen,
     P J Willems, N Meijer, H Galjaard, A J J Reuser,
     B A Oostra and A T Hoogeveen                               P.895

Human cell mutants with very low mitochondrial DNA copy number (rhod)
     F Vaillant and P Nagley                                    P.903

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous
system are differentially spliced in the 5' part of the gene
     G Danglot, V Regnier, D Fauvet, G Vassal, M Kujas
     and A Bernheim                                             P.915

Mitochondrial DNA diversity in the Kuna Amerinds of Panama
     O Batista, C J Kolman and E Bermingham                     P.921

Localization of a novel X-linked congenital stationary night
blindness locus: close linkage to the RP3 type retinitis pigmentosa
gene region
     A A B Bergen, J B ten Brink, F Riemslag,
     E J M Schuurman and N Tijmes                               P.931

Nucleotide sequence analysis of the apolipoprotein B 3' VNTR
     D L Ellsworth, M D Shriver and E Boerwinkle                P.937

A third locus for hereditary haemorrhagic telangiectasia maps to
chromosome 12q
     P Vincent, H Plauchu, J Hazan, S Faure,
     J Weissenbach and J Godet                                  P.945

Correlation between fragment size at D4F104S1 and age at onset or at
wheelchair use, with a possible generational effect, accounts for
much phenotypic variation in 4q35-facioscapulohumeral muscular
dystrophy (FSHD)
     P W Lunt, P E Jardine, M C Koch, J Maynard, M Osborn,
     M Williams, P S Harper and  M Upadhyaya                    P.951

A homozygous nonsense mutation in the alpha3 chain gene of laminin 5
(LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
     S Kivirikko, J A McGrath, C Baudoin, D Aberdam,
     S Ciatti, M G S Dunnill, J R McMillan, R A J Eady,
     J-P Ortonne, G Meneguzzi, J Uitto and A M Christiano       P.959

Definition of the blepharophimosis, ptosis, epicanthus inversus
syndrome critical region at chromosome 3q23 based on the analysis of
the chromosomal anomalies
     C T Lawson, C Toomes, A Fryer, M J M Carette, G M Taylor,
     Y Fukushima and M J Dixon                                  P.963

MUTATION REPORT

Molecular analysis of type II 3beta-hydroxysteroid dehydrogenase gene
in Japanese patients with classical 3beta-hydroxysteroid
dehydrogenase deficiency
     T Tajima, K Fujieda, J Nakae, N Shinohara,
     M Yoshimoto, T Baba, E-i Kinoshita, Y Igarashi
     and T Oomura                                               P.969

Author index                                                    P.973


=====================================================================
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 May 1995 issue, which is
shortly to be printed.  Copies are scheduled for despatch to
subscribers on 1 May 1995.  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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