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European Journal of Human Genetics
January 1999, Volume 7, Issue 1
Table of Contents
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Editorial |
| Further growth in 1999 |
1 |
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Full Article (PDF)
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Articles |
| New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling |
2 |
| HJ Tanke,
J Wiegant,
RPM van Gijlswijk,
V Bezrookove,
H Pattenier,
RJ Heetebrij,
EG Talman,
AK Raap & J Vrolijk
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Abstract
Full Article (PDF)
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| An integrated map of chromosome 18 CAG trinucleotide repeat loci |
12 |
| Andy J Grierson,
Marjon van Groenigen,
Nancy PB Groot,
Kerstin Lindblad,
Jan MN Hoovers,
Martin Schalling,
Jackie de Belleroche & Frank Baas
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Abstract
Full Article (PDF)
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| Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) |
20 |
| Fatima Abidi,
Sylvie Jacquot,
Christopher Lassiter,
Elizabeth Trivier,
André Hanauer & Charles E Schwartz
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Abstract
Full Article (PDF)
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| Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome |
27 |
| Vincent El Ghouzzi,
Elisabeth Lajeunie,
Martine Le Merrer,
Valérie Cormier-Daire,
Dominique Renier,
Arnold Munnich & Jacky Bonaventure
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Abstract
Full Article (PDF)
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| Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes |
34 |
| Birgit Weber,
Xiao-Hui Guo,
Wim J Kleijer,
Jacques JP van de Kamp,
Ben JHM Poorthuis & John J Hopwood
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Abstract
Full Article (PDF)
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| Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene |
45 |
| Kristien Verhoeven,
Robbert JH Ensink,
Valeria Tiranti,
Patrick LM Huygen,
David F Johnson,
Isabelle Schatteman,
Lut Van Laer,
Margriet Verstreken,
Paul Van de Heyning,
Nathan Fischel-Ghodsian,
Massimo Zeviani,
Cor WRJ Cremers,
Patrick J Willems & Guy Van Camp
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Abstract
Full Article (PDF)
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| Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene |
52 |
| M Wijker,
NV Morgan,
S Herterich,
CGM van Berkel,
AJ Tipping,
HJ Gross,
JJP Gille,
G Pals,
M Savino,
C Altay,
S Mohan,
I Dokal,
J Cavenagh,
J Marsh,
M Van Weel,
JJ Ortega,
D Schuler,
E Samochatova,
M Karwacki,
AN Bekassy,
M Abecasis,
W Ebell,
ML Kwee,
T de Ravel,
RA Gibson,
E Gluckman,
F Arwert,
H Joenje,
A Savoia,
H Hoehn,
JC Pronk & CG Mathew
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Abstract
Full Article (PDF)
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Review |
| Spectrum of mutations in fucosidosis |
60 |
| Patrick J Willems,
Hee-Chan Seo,
Paul Coucke,
Rossana Tonlorenzi & John S O'Brien
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Abstract
Full Article (PDF)
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Articles |
| Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome |
68 |
| Asli Silahtaroglu,
Frans A Hol,
Peter KA Jensen,
Martin Erdel,
Hans-Christoph Duba,
Monique PA Geurds,
Nine VAM Knoers,
Edwin CM Mariman,
Zeynep Tümer,
Gerd Utermann,
Jutta Wirth,
Merete Bugge & Niels Tommerup
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Abstract
Full Article (PDF)
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| Lamellar Ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus |
77 |
| L Parmentier,
C Clepet,
O Boughdene-Stambouli,
H Lakhdar,
C Blanchet-Bardon,
L Dubertret,
E Wunderle,
F Pulcini,
C Fizames & J Weissenbach
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Abstract
Full Article (PDF)
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| Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33 |
88 |
| Sandrine Marquet,
Laurent Abel,
Dominique Hillaire & Alain Dessein
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Abstract
Full Article (PDF)
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Meeting Report |
| First International SNP Meeting at Skokloster, Sweden, August 1998. Enthusiasm mixed with scepticism about single-nucleotide polymorphism markers for dissecting complex disorders |
98 |
| Ann-Christine Syvånen,
Ulf Landegren,
Anders Isaksson,
Ulf Gyllensten & Anthony Brookes
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Abstract
Full Article (PDF)
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Errata |
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102 |
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Full Article (PDF)
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