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virtual library in human genetics and molecular biology

ARTICLES

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene
duplications in an ancestral pseudoautosomal region P. 423
Germana Meroni, Brunella Franco, Nicoletta
Archidiacono, Silvia Messali, Grazia Andolfi, Mariano
Rocchi and Andrea Ballabio

Predominance of null mutations in ataxia-telangiectasia P. 433
Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar
Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara
Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik,
Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora
Goldwicz, N. G. J. Jaspers, Richard A. Gatti, Gilbert
Lenoir, Martin F. Lavin, Kouichi Tatsumi, Rolf D.
Wegner. Yosef Shiloh and Anat Bar-Shira


REPORTS

Transgenic mice carrying an Xist-containing YAC P. 441
Edith Heard, Chantal Kress, Fabien Mongelard, Beatrice
Courtier, Claire Rougeulle, Alan Ashworth, Claire
Vourch, Charles Babinet and Philip Avner

Xist expression from an Xist YAC transgene carried on the mouse Y chromosome
P.451
S. Matsuura, V. Episkopou and S. D. M. Brown

Cloning and characterization of human very-long-chain acyl-
CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification
in four patients of 9 different mutations within the VLCAD gene P.461
Brage Storstein Andresen, Peter Bross, Christine Vianey-
Saban, Priscille Divry, Marie-Therese Zabot, Charles R.
Roe, Mohamed A. Nada, Annette Byskov, Torben A.
Kruse, Soren Neve, Karsten Kristiansen, Inga Knudsen,
Morten Juhl Corydon and Niels Gregersen

Do sequence variants in the major non-coding region of the mitochondrial genome
influence mitochondrial mutations associated with disease? P.473
David R. Marchington, Joanna Poulton, Anneke Sellar,
and Ian J. Holt

Partial characterisation of murine huntingtin and apparent variations in the
subcellular localisation of huntingtin in human, mouse and rat brain P.481
Jonathan D. Wood, John C. MacMillan, Peter S. Harper,
Pedro R. Lowenstein and A. Lesley Jones

Cloning and characterization of the human homologue of a dystrophin related
phosphoprotein found at the Torpedo electric organ post-synaptic membrane
P.489
Helene M. Sadoulet-Puccio, Tejvir S. Khurana, Jonathan
B. Cohen and Louis M. Kunkel

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier
genes or polygenic background? P.497
Arti Pandya, Xia-Juan Xia, Barbara L. Landa, Kathleen
S. Arnos, Jamie Israel, Joyce Lloyd, Anthony L. James,
Scott R. Diehl, Susan H. Blanton and Walter E. Nance

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene
includes C5839T, the site of the recurrent substitution mutation in exon 31 P.503
Joseph D. Andrews, Debora N. Mancini, Shiva M. Singh
and David I. Rodenhiser

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type
1 (TD1) P.509
F. Rousseau, V. El Ghouzzi, A. L. Delezoide, L. Legeai-
Mallet, M. Le Merrer, A. Munnich and J. Bonaventure

A murine homologue of the human DAZ gene is autosomal and expressed only in
male and female gonads P.513
Howard J. Cooke, Muriel Lee, Shona Kerr and Matteo
Ruggiu

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19)
Prader-Willi syndrome patient P.517
Yongming Sun, Robert D. Nicholls, Merlin G. Butler,
Shinji Saitoh, Bryan E. Hainline and Catherine G.
Palmer

A cerebellar ataxia locus identified by DNA pooling to search for linkage
disequilibrium in an isolated population from the
Cayman Islands P.525
Arne Nystuen, Paul J. Benke, Joy Merren, Edwin M.
Stone and Val C. Sheffield

A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X
chromosome: implications for X-linked retinal disorders P.533
Deborah A. Swanson, Carol L. Freund, Lynda Ploder,
Roderick R.. McInnes and David Valle

A stable nonsense mutation associated with a case of infantile onset polycystic
kidney disease 1 (PKD1) P.539
Belen Peral, Albert C. M. Ong, Jose L. San Millan, Vicki
Gamble, Lesley Rees and Peter C. Harris

LINKAGE REPORTS

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the
pericentromeric region of chromosome 13q P.543
Zoha Kibar, Vazken M. Der Kaloustian, Bernard Brais,
Valerie Hani, F. Clarke Fraser and Guy A. Rouleau

The hereditary pancreatitis gene maps to long arm of chromosome 7 P.549
Louis Le Bodic, Jean-Denis Bignon, Odile Raguenes,
Bernard Mercier, Thierry Georgelin, Mathieu Schnee,
Francois Soulard, Katia Gagne, Francoise Bonneville,
Jean-Yves Muller, Lucien Bachner and Claude Ferec

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35 P.555
Laurent Parmentier, Hakima Lakhdar, Claudine
Blanchet-Bardon, Sylvie Marchand, Louis Dubertret and
Jean Weissenbach

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 April 1996 issue, which is shortly to be
printed. Copies are scheduled for despatch to subscribers on 20 March 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

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