Journal of Medical Genetics: 38 (10)

Electronic letter

The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications
(1 October, 2001)
Clara Ruiz-Ponte, Ana Vega, Roberto Conde, Francisco Barros, Angel Carracedo
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene (1 October, 2001)
Mirella Filocamo, Stefano Regis, Raffaella Mazzotti, Giancarlo Parenti, Marina Stroppiano, Rosanna Gatti
No evidence of allelic heterogeneity in theDYT1 gene of European patients with early onset torsion dystonia
(1 October, 2001)
Sylvie Tuffery-Giraud, Laurent Cavalier, Agathe Roubertie, Caroline Guittard, Soukeyna Carles, Patrick Calvas, Bernard Echenne, Philippe Coubes, Mireille Claustres
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
(1 October, 2001)
Myrna Mustapha, Nabiha Salem, Valérie Delague, Eliane Chouery, Michella Ghassibeh, Myriam Rai, Jacques Loiselet, Christine Petit, André Mégarbané

Review article

The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review (1 October, 2001)
Kristi J Jones, Graeme Morgan, Heather Johnston, Vivienne Tobias, Robert A Ouvrier, Ian Wilkinson, Kathryn N North

Original articles

A dominant gene for developmental dyslexia on chromosome 3 (1 October, 2001)
Jaana Nopola-Hemmi, Birgitta Myllyluoma, Tuomas Haltia, Mikko Taipale, Vesa Ollikainen, Timo Ahonen, Arja Voutilainen, Juha Kere, Elisabeth Widén
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies (1 October, 2001)
Michaela Jaksch, Stephanie Kleinle, Curt Scharfe, Thomas Klopstock, Dieter Pongratz, Josef Müller-Höcker, Klaus-D Gerbitz, Sabina Liechti-Gallati, Hanns Lochmuller, Rita Horvath
An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality (1 October, 2001)
N L Shannon, E L Maltby, A S Rigby, O W J Quarrell

Short report

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 (1 October, 2001)
Daniel J Hampshire, Emma Roberts, Yanick Crow, Jacquelyn Bond, Ammar Mubaidin, Abdul-Latif Wriekat, Amir Al-Din, C Geoffrey Woods

Letters to the editor

Surveillance or surgery? A description of the factors that influence high risk premenopausal women's decisions about prophylactic oophorectomy (1 October, 2001)
Nina Hallowell, Ian Jacobs, Martin Richards, James Mackay, Martin Gore
Oncology nurse training in cancer genetics (1 October, 2001)
Clara Gaff, Kristiina Aittomäki, Robert Williamson
Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners (1 October, 2001)
L Henneman, I Bramsen, H M van der Ploeg, H J Adèr, H E van der Horst, J J P Gille, L P ten Kate
Functional characterisation of mitochondrial tRNA^Tyrmutation (5877G→A) associated with familial chronic progressive external ophthalmoplegia
(1 October, 2001)
Ko Sahashi, Makoto Yoneda, Kinji Ohno, Masashi Tanaka, Tohru Ibi, Kentaro Sahashi
Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions (1 October, 2001)
P Syrris, A Murray, N D Carter, W M McKenna, S Jeffery
Triplication of several PAR1 genes and part of theHomo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia
(1 October, 2001)
Norman L J Ross, Jian Yang, Carole A Sargent, Catherine A Boucher, Shinichiro Nanko, Rekha Wadekar, Nic A Williams, Nabeel A Affara, Timothy J Crow
Potential mapping of corneal dermoids to Xq24-qter (1 October, 2001)
Peer Dar, Ali A Javed, Myrna Ben-Yishay, Jose C Ferreira, Andrew D Paterson, Susan J Gross, David Chitayat, Bernice E Morrow, Harold M Nitowsky
Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect (1 October, 2001)
Lionel Willatt, Andrew J Green, Dorothy Trump

Notice

Inherited Disorders and their Genes in Different European Populations (1 October, 2001)

Correction

Correction for vol. 37, p. 897 (1 October, 2001) Free

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Table of contents

October 2001 - Volume 38 - 10

Electronic letter

Review article

Original articles

Short report

Letters to the editor

Notice

Correction

Issue Information

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Table of contents

October 2001 - Volume 38 - 10

Electronic letter

Review article

Original articles

Short report

Letters to the editor

Notice

Correction

Issue Information