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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics 05:12 (december issue)
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Wed, 20 Nov 1996 10:55:56 +0100

Human Molecular Genetics - ISSN 1964-6906
Volume 5, No 12
December 1996
Executive Editors:-
K E Davies, Oxford, UK
Huntington 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



        Y N Li, S Gulati, P J Baker, L C Brody, R Banerjee and W D

Cloning, mapping and RNA analysis of the human methionine synthase
gene  P. 1851

        S Gulati, P Baker, Y N Li, B Fowler, W Kruger, L C Brody and R

Defects in human methionine synthase in cblG patients  P. 1859

        D Leclerc, E Campeau, P Goyette, C E Adjalla, B Christensen, M
        Ross, P Eydoux, D S Rosenblatt, R Rozen and R A Gravel

Human methionine ynthase: cDNA cloning and identification of
mutations in patients of the cblG complementation group of
folate/cobalamin disorders  P. 1867

        J G Hodgson, D J Smith, K McCutcheon, H B Koide, K
        Nishiyama, M B Dinulos, M E Stevens, N Bissada, J Nasir, I
        Kanawawa, C M Disteche, E M Rubin and M R Hayden

Human huntingtin derived from YAC transgenes compensates for loss of
murine huntingtin by rescue of the embryonic lethal phenotype  P.1875

        G Stevanin, Y Trottier, G Cancel, A Durr, G David, O Didierjean,
        K Burk, G Imbert, F Saudou, M Abada-Bendib, I Gourfinkel-An,
        A Benomar, N Abbas, T Klockgether, D Grid, Y Agid, J-L Mandel
        and A Brice

Screening for proteins with polyglutamine expansions in autosomal
dominant cerebellar ataxias  P.1887

        F Dutly and A Schinzel

Unequal interchromosomal rearrangements may result in elastin gene
deletions causing the Williams-Beuren syndrome  P.1893

        D J Picketts, D R Higgs, S Bachoo, D J Blake, O W J Quarrell and
        R J Gibbons

ATRX encodes a novel member of the SNF2 family of proteins:
mutations point to a common mechanism underlying the ATR-X
syndrome  P.1899


        J Oshima, C-E Yu, C Piussan, G Klein, J Jabkowski, S Balci, T
        Miki, J Nakura, T Ogihara, J Ells, M de A C Smith, M I
        Melaragno, M Fraccaro, S Scappaticci, J Matthews, S Ouais, A
        Jarzebowicz, G D Schellenberg and G M Martin

Homozygous and compound heterozygous mutations at the Werner
syndrome locus  P.1909

        L Ma, S Golden, L Wu, and R Maxson

The molecular basis of Boston type craniosynostosis: the Pro148His
mutation in the N-terminal arm of the MSX2 homeodomain stabilizes
DNA binding without altering nucleotide sequence preferences  P.1915

        R J Scott, N J Froggatt, R C Trembath, D G R Evans, S V
        Hodgson and E R Maher

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290)
caused by a recurrent 3' APC gene mutation  P.1921

        Y S Hong, D S Kerr, W J Craigen, J Tan, Y Pan, M Lusk and M S

Identification of two mutations in a compound heterozygous child with
dihydrolipoamide dehydrogenase deficiency  P.1925

        L Yuan, N Qian and B Tycko

An extended region of biallelic gene expression and rodent-human
synteny downstream of the imprinted H19 gene on chromosone 11p15.5

        M W Kilpatrick, L A Phylactou, M Godfrey, C H Wu, G Y Wu
        and P Tsipouras

Delivery of a hammerhead ribozyme specifically down-regulates the
production of fibrillin-1 by cultured dermal fibroblasts  P.1939

        A Brinke, L Tagliavacca, J Naylor, P Green, P Giangrande and F

Two chimaeric trancription units result from an inversion breaking intron
1 of the factor VIII gene and a region reportedly affected by
reciprocal translocations in T-cell leukaemia  P.1945

        C G Bonnemann, M R Passos-Bueno, E M McNally, M Vainzof, E
        de Sa Moreira, S K Marie, R C M Pavanello, S Noguchi, E Ozawa,
        M Zatz and L M Kunkel

Genomic screening for beta-sarcoglycan gene mutations: missense
mutations may cause severe limb-girdle muscular dystrophy type 2E
(LGMD 2E)  P.1953

        M Vainzof, M R Passos-Bueno, M Canovas, E S Moreira, R C M
        Pavanello, S K Marie, L V B Anderson, C G Bonnemann, E M
        McNally, V Nigro, L M Kunkel and M Zatz

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular
dystrophies  P.1963

        C Brahe, O Clermont, S Zappata, F Tiziano, J Melki and G Neri

Frameshift mutation in the survival motor neuron gene in a severe case of
SMA type I  P.1971

        X-Y Zhou, A van der Spoel, R Rottier, G Hale, R Willemsen, G T
        Berry, P Strisciuglio, G Andria and A d'Azzo

Molecular and biochemical analysis of protective protein/cathepsin A
mutations: correlation with clinical severity in galactosialidosis  P.1977

        L W J Klomp and J D Gitlin

Expression of the ceruloplasmin gene in the human retina and brain:
implications for a pathogenic model in aceruloplasminemia  P.1989

        J C T van Deutekom, E Bakker, R J L F Lemmers, M J R van der
        Wielen, E Bik, M H Hofker, G W Padberg and R R Frants

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units
between chromosomes 4q35 and 10q26: implications for genetic
counselling and etiology of FSHD1  P.1997

        Z Shan, P Hirschmann, T Seebacher, A Edelmann, A Jauch, J
        Morell, P Urbitsch and P H Vogt

A SPGY copy homologous to the mouse gene Dazla and the Drosophila
gene boule is autosomal and expressed only in the human male gonad

        P H Yen, N N Chai and E C Salido

The human autosomal gene DAZLA: testis specificity and a candidate for
male infertility  P.2013

        F Piccolo, M Jeanpierre, F Leturcq, C Dode, K Azibi, A Toutain,
        L Merlini, L Jarre, C Navarro, R Krishnamoorthy, F M S Tome, J
        A Urtizberea, J S Beckmann, K P Campbell and J-C Kaplan

A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly
predating their migration out of India  P.2019

        S M Ivanchuk, S M Myers, C Eng and L M Mulligan

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor
complex, in Hirschsprung disease  P.2023

        K W Brown, A J Villar, W Bickmore, J Clayton-Smith, D
        Catchpoole, E R Maher and W Reik

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to
biallelic IGF2 expression through an H19-independent pathway  P.2027

        S Gilad, A Bar-Shira, R Harnik, D Shkedy, Y Ziv, R Khosravi, K
        Brown, L Vanagaite, G Xu, M Frydman, M F Lavin, D Hill, D A
        Tagle and Y Shiloh

Ataxia telangiectasia: founder effect among North African Jews  P.2033

        D J Day, P W Speiser, E Schulze, M Bettendorf, J Fitness, F
        Barany and P C White

Identification of non-amplifying CYP21 genes when using PCR-based
diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia
(CAH) affected pedigrees  P.2039


        M Maw, B Kar, J Biswas, P Biswas, D Nancarrow, R Bridges, G
        Kumaramanickavel, M Denton and S S Badrinath

Linkage of blepharophimosis syndrome in a large Indian pedigree to
chromosome 7p  P.2049

        J Tyson, S Bellman, V Newton, P Simpson, S Malcolm, M E
        Pembrey and M Bitner-Glindzicz

Mapping of DFN2 to Xq22  P.2055

        A Weber, T F Wienker, M Jung, D Easton, H J Dean, C Heinrichs,
        A Reis and A J L Clark

Linkage of the gene for the triple A syndrome to chromosome 12q13 near
the type II keratin gene cluster  P.2061


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

The papers listed above will appear in the December 1996 issue,
which is shortly to be printed. Copies are scheduled for despatch
to subscribers on 20 November 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.
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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