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European Journal of Human Genetics

October 2000, Volume 8, Issue 10
Table of Contents

Journal Home
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Review

Psychological consequences of predictive genetic testing: a systematic review 731
Marita Broadstock, Susan Michie & Theresa Marteau
Abstract    Full Article (PDF)

Articles

Protection of privacy by third-party encryption in genetic research in Iceland 739
Jeffrey R Gulcher, Kristleifur Kristjánsson, Hákon Gudbjartsson & Kári Stefánsson
Abstract    Full Article (PDF)

Inheritance of human longevity in Iceland 743
Hjalti Gudmundsson, Daniel F Gudbjartsson, Augustine Kong, Hákon Gudbjartsson, Mike Frigge, Jeffrey R Gulcher & Kári Stefánsson
Abstract    Full Article (PDF)

Inferring the impact of linguistic boundaries on population differentiation: application to the Afro-Asiatic-Indo-European case 750
Isabelle Dupanloup de Ceuninck, Stefan Schneider, André Langaney & Laurent Excoffier
Abstract    Full Article (PDF)

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland 757
Laura Sarantaus, Pia Huusko, Hannaleena Eerola, Virpi Launonen, Paula Vehmanen, Katrin Rapakko, Elizabeth Gillanders, Kirsi Syrjäkoski, Tommi Kainu, Pia Vahteristo, Ralf Krahe, Kati Pääkkönen, Jaana Hartikainen, Carl Blomqvist, Tuija Löppönen, Kaija Holli, Markku Ryynänen, Ralf Bützow, Åke Borg, Brita Wasteson Arver, Eva Holmberg, Arto Mannermaa, Juha Kere, Olli-Pekka Kallioniemi, Robert Winqvist & Heli Nevanlinna
Abstract    Full Article (PDF)

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes 764
Blake C Ballif, Catherine D Kashork & Lisa G Shaffer
Abstract    Full Article (PDF)

Hereditary spastic paraplegia caused by mutations in the SPG4 gene 771
Joachim Bürger, Nuria Fonknechten, Maria Hoeltzenbein, Luitgart Neumann, Elfriede Bratanoff, Jamilé Hazan & André Reis
Abstract    Full Article (PDF)

A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 777
Cristiana Lo Nigro, Roberto Cusano, Monica Scaranari, Roberta Cinti, Paola Forabosco, Vincenzo Brescia Morra, Giuseppe De Michele, Lucio Santoro, Sally Davies, Jane Hurst, Marcella Devoto, Roberto Ravazzolo & Marco Seri
Abstract    Full Article (PDF)

NRL S50T mutation and the importance of ‘founder effects’ in inherited retinal dystrophies 783
David AR Bessant, Annette M Payne, Catherine Plant, Alan C Bird, Anand Swaroop & Shomi S Bhattacharya
Abstract    Full Article (PDF)

The IL9R region contribution in asthma is supported by genetic association in an isolated population 788
Paula Kauppi, Tarja Laitinen, Vesa Ollikainen, Heikki Mannila, Lauri A Laitinen & Juha Kere
Abstract    Full Article (PDF)

Short Reports

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family 793
Ieke B Ginjaar, Alexander LJ Kneppers, Jan-Douwe M v d Meulen, Louise VB Anderson, Mattie Bremmer-Bout, Judith CT van Deutekom, Jitske Weegenaar, Johan T den Dunnen & Egbert Bakker
Abstract    Full Article (PDF)

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly 797
L Pasquier, C Dubourg, M Blayau, L Lazaro, B Le Marec, V David & S Odent
Abstract    Full Article (PDF)

Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome 801
Anne Bergman & Elisabeth Blennow
Abstract    Full Article (PDF)

A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin 805
N Simon Thomas, Andrew R Collins, Terry J Hassold & Patricia A Jacobs
Abstract    Full Article (PDF)

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 809
F Sangiuolo, E Bruscia, F Capon, S Servidei, B Dallapiccola & G Novelli
Abstract    Full Article (PDF)

Course Profile

From developmental biology to dysmorphology 813
Roberto Ravazzolo, Giulio Cossu & Raoul CM Hennekam
Full Article (PDF)

© Macmillan Publishers Ltd 2000

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