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Subject: LITE: TOC HMG
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Fri, 25 Jul 1997 17:51:01 +0200

Human Molecular Genetics - ISSN 1964-6906
Volume 6, No 9
September 1997
Executive Editors:-
K E Davies, Oxford, UK
Huntingdon F Willard, Cleveland, OH, USA


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:-


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:-


 and click on "Contents and Abstracts of Current



 N E Lamb, E Feingold, A Savage, D Avramopoulos, S Freeman, Y
 Gu, A Hallberg, J Hersey, G Karadima, D Pettay, D Saker, J Shen,
 L Taft, M Mikkelsen, M B Petersen, T Hassold and S L Sherman

Characterization of susceptible chiasma configurations that increase
the risk for maternal nondisjunction of chromosome 21  P. 1391


 H Zouali, E H Hani, A Philippi, N Vionnet, J S Beckmann, F
 Demenais and P Froguel

A susceptibility locus for early-onset non-insulin-dependent (type 2)
diabetes mellitus maps to chromosome 20q, proximal to the
phosphoenolpyruvate carboxykinase gene  P. 1401

 I van Bakel, T Sepp, S Ward, J R W Yates and A J Green

Mutations in the TSC2 gene: analysis of the complete coding sequence
using the protein truncation test (PTT)  P. 1409

 S Millington-Ward, B O'Neill, G Tuohy, N Al-Jandal, A-S Kiang,
 P F Kenna, A Palfi, P Hayden, F Mansergh, A Kennan, P
 Humphries and G J Farrar

Strategies in vitro for gene therapies directed to dominant mutations
P. 1415

 F Foucault, C Vaury, A Barakat, D Thibout, P Planchon, C Jaulin,
 F Praz and M Amor-Gueret

Characterization of a new BLM mutation associated with a topoisomerase
IIalpha defect in a patient with Bloom's syndrome  P. 1427

 I Danko, P Williams, H Herweiger, G Zhang, J S Latendresse, I Bock
 and J A Wolff

High expression of naked plasmid DNA in muscles of young rodents  P.

  A Pallavicini, R Zimbello, N Tiso, T Muraro, L Rampoldi, S
 Bortoluzzi, G Valle, G Lanfranchi and G A Danieli

The preliminary transcript map of a human skeletal muscle P. 1445

 C L Kelly, W J Rhead, W K Kutschke, A E Brix, D A Hamm, C A
 Pinkert, J R Lindsey and P A Wood

Functional correction of short-chain acyl-coA dehydrogenase
deficiency in transgenic mice: implications for gene therapy of human
mitochondrial enzyme deficiencies  P. 1451

 J Janata, N Kogekar and W A Fenton

Expression and kinetic characterization of methylmalonyl-CoA mutase
from patients with the mut- phenotype: evidence for naturally
occurring interallelic complementation  P. 1457

 F Corbin, M Bouillon, A Fortin, S Morin, F Rousseau and E W

The fragile X mental retardation protein is associated with poly(A)+
mRNA in actively translating polyribosomes  P. 1465

 T J Watnick, K B Piontek, T M Cordal, H Weber, M A Gandolph,
 F Qian, X M Lens, H P H Neumann and G G Germino

An unusual pattern of mutation in the duplicated portion of PKD1 is
revealed by use of a novel strategy for mutation detection  P. 1473

 R Sandford, B Sgotto, S Aparicio, S Brenner, M Vaudin, R K
 Wilson, S Chissoe, K Pepin, A Bateman, C Chothia, J Hughes and
 P Harris

Comparative analysis of the polycystic kidney disease 1 (PKD1) gene
reveals an integral membrane glycoprotein with multiple evolutionary
conserved domains  P. 1483

 R Y Walder, H Shalev, T M H Brennan, R Carmi, K Elbedour, D A
 Scott, A Hanauer, A L Mark, S Patil, E M Stone and V C Sheffield

Familial hypomagnesemia maps to chromosome 9q, not to the X
chromosome: genetic linkage mapping and analysis of a balanced
translocation breakpoint  P. 1491

 B M de Gouyon, W Zhao, J Laporte, J-L Mandel, A Metzenberg and
 G E Herman

Characterization of mutations in the myotubularin gene in 26 patients
with X-linked myotubular myopathy  P. 1499

 J Laporte, C Guiraud-Chaumeil, M-C Vincent, J-L Mandel, S M
 Tanner, S Liechti-Gallati, C Wallgren-Pettersson, N Dahl, W Kress,
 P A Bolhuis, M Fardeau, F Samson, E Bertini and members of the
 ENMC International Consortium on Myotubular Myopathy

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy
P. 1505

 J Swensen, M Hoffman, M H Skolnick and S L Neuhausen

Identification of a 14 kb deletion involving the promoter region of
BRCA1 in a breast cancer family  P. 1513

 V Colomer, S Engelender, A H Sharp, K Duan, J K Cooper, A
 Lanahan, G Lyford, P Worley and C A Ross

Huntingtin-associated protein 1 (HAP1) binds to a trio-like
polypeptide with a rac1 guanine nucleotide exchange factor domain  P.

 A Knoll, H Schunkert, K Reichwald, A H J Danser, D Bauer, M
 Platzer, G Stein and A Rosenthal

Human renin binding protein: complete genomic sequence and association
of an intronic T/C polymorphism with the prorenin level in males  P.

 B T Lamb, L M Call, H H Slunt, K A Bardel, A M Lawler, C B
 Eckman, S G Younkin, G Holtz, S L Wagner, D L Price, S S
 Sisodia and J D Gearhart

Altered metabolism of familial Alzheimer's disease-linked amyloid
precursor protein variants in yeast artificial chromosome transgenic
mice  P. 1535

 J A Joyce, W K Lam, D J Catchpoole, P Jenks, W Reik, E R
 Maher and P N Schofield

Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-
Wiedemann syndrome  P. 1543

 N dos Santos, D R H de Bruijn, M Balemans, B Janssen, F Gartner,
 J M Lopes, B de Leeuw and A Geurts van Kessel

Nuclear localization of SYT, SSX and the synovial sarcoma-associated
SYT- SSX fusion proteins  P. 1549

 D Brett, S Whitehouse, P Antonson, J Shipley, C Cooper and G

The SYT protein involved in the t(X;18) synovial sarcoma is a
transcriptional activator localised in nuclear bodies  P. 1559

 P Bois, A Collick, J Brown and A J Jeffreys

Human minisatellite MS32 (D1S8) displays somatic but not germline
instability in transgenic mice  P. 1565

 B Weber, X-H Guo, J E Wraith, A Cooper, W J Kleijer, S Bunge
 and J J Hopwood

Novel mutations in Sanfilippo A syndrome: implications for enzyme
function  P. 1573

 S Ezer, D Schlessinger, A Srivastava and J Kere

Anhidrotic Ectodermal Dysplasia (EDA) protein expressed in MCF-7 cells
associates with cell membrane and induces rounding  P. 1581

 B M Ferguson, N Brockdorff, E Formstone, T Ngyuen, J E
 Kronmiller and J Zonana

Cloning of Tabby, the murine homolog of the human EDA gene: evidence
for a membrane-associated protein with a short collagenous domain  P.

 L T Reiter, T Murakami, T Koeuth, R A Gibbs and J R Lupski

The human COX10 gene is disrupted during homologous recombination
between the 24 kb proximal and distal CMT1A-REPs  P. 1595

 L Zelante, P Gasparini, X Estivill, S Melchionda, L D'Agruma, N
 Govea, M Mila, M Della Monica, J Lutfi, M Shohat, E Mansfield,
 K Delgrosso, E Rappaport, S Surrey and P Fortina

Connexin 26 mutations associated with the most common form of non-
syndromic neurosensory autosomal recessive deafness (DFNB1) in
Mediterraneans  P. 1605


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 September 1997 issue, which
is shortly to be printed. Copies are scheduled for despatch to
subscribers on 20 August 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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