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  Arthur Bergen: LITE: Preview Human Molecular Genetics 4:12 (dec 1995 issue)  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Preview Human Molecular Genetics 4:12 (dec 1995 issue)
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Mon, 6 Nov 1995 17:51:57 +0100

=============================================
Human Molecular Genetics - ISSN 1964-6906
Volume 4, No 12
December 1995
=============================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
=============================================
CONTENTS
=============================================


ARTICLES

Identification of centromeric antigens in dicentric Robertsonian
 translocations: CENP-C AND CENP-E are necessary
components of functional centromeres
     B A Sullivan and S Schwartz                                P.2189

Population survey of the human FMR1 CGG repeat
 substructure suggests biased polarity for the loss of AGG
interruptions
        E E Eichler, H A Hammond, J N Macpherson, P A
        Ward and D L Nelson                                     P.2199

Highly conserved 3' UTR and expression pattern of FXR1
points to a divergent gene regulation of FXR1 and FMR1
        J F Coy, Z Sedlacek, D Bachner, H Hameister, S Joos,
        P Lichter, H Delius and A Poustka               P.2209

Oncogenic conversion of a novel orphan nuclear receptor by
chromosome translocation
        Y Labelle, J Zucman, G Stenman, L-G Kindblom, J
        Knight, C Turc-Carel, B Dockhorn-Dworniczak, N
        Mandahl, C Desmaze, M Peter, A Aurias, O Delattre
        and G Thomas                                    P.2219

REPORTS

Non-disjunction in human sperm: evidence for an effect of
increasing paternal age
        D K Griffin, M A Abruzzo, E A Millie, L A Sheean, E
        Feingold, S L Sherman and T J Hassold   P.2227

Germline mutations in the von Hippel-Lindau disease (VHL)
gene in Japanese VHL
        Clinical Research Group for VHL in Japan        P.2233

Stability of the Huntington disease (CAG)n repeat in a late-
onset form occurring on the Island of Crete
        M Tzagournissakis, C O Fesdjian, P Shashidharan and
        A Plaitakis                                     P.2239

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-
bisphophate 5-phosphatase in the Golgi apparatus
        S F Suchy, I M Olivos-Glander and R L Nussbaum                                                          P.2245

Homologous unequal cross-over involving a 2.8 kb direct repeat
as a mechanism for the generation of allelic variants of the
human cytochrome P450 CYP2D6 gene
        V M Steen, A Molven, N K Aarskog and A-K
        Gulbrandsen                                     P.2251

Distinct transcription start sites generate two forms of BRCA1
mRNA
        C-F Xu, M A Brown, J A Chambers, B Griffiths,
        H Nicolai and E Solomon                 P.2259

Mouse Brca1: localization, sequence analysis and identification
of evolutionarily conserved domains                                     K J Abel, Junzhe X, G-Y Yin, R H Lyons, M H
        Meisler and B L Weber                   P.2265

Murine Brca1: sequence and significance for human missense
mutations
        S K Sharan, M Wims and A Bradley                P.2275

Liposome-mediated gene transfer and expression via the skin
        M Y Alexander and R J Akhurst           P.2279

Allele-specific replication timing in imprinted domains: absence
of asynchrony at several loci
        H Kawame, S M Gartler and R S Hansen    P.2287

Mutation analysis of the TSC2 gene in an African-American
family
        A Kumar, R S Kandt, C Wolpert, A D Roses, M A
        Pericak-Vance and J R Gilbert           P.2295

T->A transversion 11 bp from a splice acceptor site in the human
gene for steroidogenic acute regulatory protein causes congenital
lipoid adrenal hyperplasia
        M-K Tee, D Lin, T Sugawara, J A Holt, Y
        Guiguen, B Buckingham, J F Strauss III and W L Miller                                                   P.2299

RBM3, a novel human gene in Xp11.23 with a putative RNA-
binding domain
        J M J Derry, J A Kerns and U Francke            P.2307

Breakpoint characterization of the ret/PTC oncogene in human
papillary thyroid carcinoma
        P A Smanik, T L Furminger, E L Mazzaferri and S M
        Jhiang                                          P.2313

Analysis of the OA1 gene reveals mutations in only one-third of
patients with X-linked ocular albinism
        M V Schiaffino, M T Bassi, L Galli, A Renieri, M
        Bruttini, F De Nigris, A A B Bergen, S J Charles, J R W
        Yates, A Meindl, R A Lewis, R A King and A Ballabio                                                     P.2319

Analysis of the CMT1A-REP repeat: mapping crossover
breakpoints in CMT1A and HNPP
        H Kiyosawa, M W Lensch and P F Chance   P.2327

Characterization of the large deletion in the GALC gene found
in patients with Krabbe disease
        P Luzi, M A Rafi and D A Wenger         P.2335

A gene (SRPX) encoding a sushi-repeat-containing protein is
deleted in patients with X-linked retinitis pigmentosa
        A Meindl, M R S Carvalho, K Herrmann, B Lorenz, H
        Achatz, B Lorenz, E Apfelstedt-Sylla, B Wittwer, M
        Ross and T Meitinger                            P.2339

Identification of a novel gene, ETX1, from Xp21.1, a candidate
gene for X-linked retinitis pigmentosa (RP3)
        K L Dry, M A Aldred, A J Edgar, J Brown, F D C
        Manson, M-F Ho, J Prosser, L J Hardwick, A A
        Lennon, K Thomson, M Van Keuren, D M Kurnit, A C
        Bird, M Jay, A P Monaco and A F Wright  P.2347

Structural characterization of the FKHR gene and its
rearrangement in alveolar rhabdomyosarcoma
        R J Davis, J L Bennicelli, R A Macina, L M Nycum, J A
        Biegel and F G Barr                             P.2355

Molecular genetic analysis of familial early-onset Alzheimer's
disease linked to chromosome 14q24.3
        M Cruts, H Backhovens, S-Y Wang, G Van Gassen,
        J Theuns, C De Jonghe, A Wehnert, J De Voecht, G De
        Winter, P Cras, M Bruyland, N Datson, J Weissenbach,
        J T den Dunnen, J-J Martin, L Hendriks and C Van
        Broeckhoven                                     P.2363

Mutations of the presenilin I gene in families with early-onset
Alzheimer's disease
        D Campion, J-M Flaman, A Brice, D Hannequin, B
        Dubois, C Martin, V Moreau, F Charbonnier, O
        Didierjean, S Tardieu, C Penet, M Puel, F Pasquier, F
        Le Doze, G Bellis, A Calenda, R Heilig, M Martinez, J
        Mallet, M Bellis, F Clerget-Darpoux, Y Agid and T
        Frebourg                                        P.2373

Imprinting mutations in the Beckwith-Wiedemann syndrome
suggested by an altered imprinting pattern in the IGF2-H19
domain
        W Reik, K W Brown, H Schneid, Y Le Bouc, W
        Bickmore and E R Maher                  P.2379

LINKAGE REPORTS

Partial characterization and assignment of the gene for
protoporphyrinogen oxidase and variegate porphyra to human
chromosome 1q23
        A G Roberts, S D Whatley, J Daniels, P Holmans, I
        Fenton, M J Owen, P Thompson, C Long and G H Elder
                                                        P.2387

A human recessive neurosensory nonsyndromic hearing
impairment locus is a potential homologue of the murine
deafness (dn) locus
        P K Jain, K Fukushima, D Deshmukh, A Ramesh, E
        Thomas, A K Lalwani, S Kumar, B Ploplis, H Skarka,
        C R Srikumari Srisailapathy, S Wayne, R I S Zbar, I C
        Verma, R J H Smith and E R Wilcox               P.2391

Linkage of congenital hereditary endothelial dystrophy to
chromosome 20
        N M G Toma, N D Ebenezer, C F Inglehearn, C Plant, L
        A Ficker and S S Bhattacharya           P.2395

A gene for monilethrix is closely linked to the type II keratin
gene cluster at 12q13
        E Healy, S C Holmes, C E Belgaid, A M Stephenson, W
        H I McLean, J L Rees and C S Munro      P.2399


MUTATION REPORTS

Improved oligonucleotide primer set for molecular diagnosis of
X-linked agammaglobulinaemia: predominance of amino acid
substitutions in the catalytic domain of Bruton's tyrosine kinase
        I Vorechovsky, Liping Luo, G de Saint Basile, L
        Hammarstrom, A D B Webster and C I E Smith
                                                        P.2403

Mutation of the endothelin-receptor B gene in Waardenburg-
Hirschsprung disease
        T Attie, M Till, A Pelet, J Amiel, P Edery, L Boutrand,
        A Munnich and S Lyonnet                 P.2407

A novel CAG repeat configuration in the SCA1 gene:
implications for the molecular diagnostics of spinocerebellar
ataxia type 1
        F Quan, J Janas and B W Popovich                P.2411

A novel Ser156Cys mutation in the tissue inhibitor of
metalloproteinases-3 (TIMP3 in Sorsby's fundus dystrophy with
unusual clinical features
        U Felbor, H Stohr, T Amann, U Schonherr and B H F       Weber                                           P.2415

Interstitial 22q11 microdeletion excluding the ADU breakpoint
in a patient with DiGeorge syndrome
        A Levy, S Demczuk, A Aurias, D Depetris, M-G Mattei
        and N Philip                                    P.2417


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

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