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|
Letter |
| MtDNA-related idiopathic dilated cardiomyopathy |
847 |
| Alessandra Tessa,
Laura Vilarinho,
Carlo Casali & Filippo M Santorelli
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Full Article (PDF)
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Articles |
| Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1 |
849 |
| Angèle Guilbot,
Nicole Ravisé,
Ahmed Bouhouche,
Philippe Coullin,
Nazha Birouk,
Thierry Maisonobe,
Thierry Kuntzer,
Christophe Vial,
Djamel Grid,
Alexis Brice & Eric LeGuern
|
|
Abstract
Full Article (PDF)
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| Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2) |
860 |
| Barbera Veldhuisen,
Lia Spruit,
Hans G Dauwerse,
Martijn H Breuning & Dorien JM Peters
|
|
Abstract
Full Article (PDF)
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|
| Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes |
873 |
| Benno Röthlisberger,
Dieter Kotzot,
Lukrecija Brecevic,
Michael Koehler,
Damina Balmer,
Franz Binkert & Albert Schinzel
|
|
Abstract
Full Article (PDF)
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|
| Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli |
884 |
| Susanne Kjaergaard,
Flemming Skovby & Marianne Schwartz
|
|
Abstract
Full Article (PDF)
|
|
| Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG) |
889 |
| G Stevanin,
G David,
A Dürr,
P Giunti,
A Benomar,
M Abada-Bendib,
M S Lee,
Y Agid & A Brice
|
|
Abstract
Full Article (PDF)
|
|
| The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster |
897 |
| Marguerite Neerman-Arbez,
Stylianos E Antonarakis,
Ariane Honsberger & Michael A Morris
|
|
Abstract
Full Article (PDF)
|
|
| Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome |
903 |
| Francesca Amati,
Emanuela Conti,
Antonio Novelli,
Mario Bengala,
Maria Cristina Digilio,
Bruno Marino,
Aldo Giannotti,
Orazio Gabrielli,
Giuseppe Novelli & Bruno Dallapiccola
|
|
Abstract
Full Article (PDF)
|
|
| Probing the Gene eXpression Database for candidate genes |
910 |
| Maurice AM van Steensel,
J Celli,
JH van Bokhoven & HG Brunner
|
|
Abstract
Full Article (PDF)
|
|
| Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25 |
920 |
| Jan Meuleman,
Gregor Kuhlenbäumer,
Anja Schirmacher,
Manfred Wehnert,
Peter De Jonghe,
Els De Vriendt,
Peter Young,
Eila Airaksinen,
Adolfo Pou-Serradell,
José-Maria Prats,
Bernd Ringelstein,
Florian Stögbauer,
Christine Van Broeckhoven & Vincent Timmerman
|
|
Abstract
Full Article (PDF)
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|
Short Reports |
| Multiple APC mutations in sporadic flat colorectal adenomas |
928 |
| René van Wyk,
Premysl Slezak,
Maritha J Kotze,
Edgar Jaramillo,
Koichi Koizumi & Johanna J Grobbelaar
|
|
Abstract
Full Article (PDF)
|
|
| Germline and gonosomal mosaicism in the ATR-X syndrome |
933 |
| Satvinder Bachoo & Richard J Gibbons
|
|
Abstract
Full Article (PDF)
|
|
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of  7-sterol reductase in Italy and report of three novel mutations |
937 |
| D De Brasi,
T Esposito,
M Rossi,
G Parenti,
MP Sperandeo,
A Zuppaldi,
T Bardaro,
MA Ambruzzi,
L Zelante,
A Ciccodicola,
G Sebastio,
M D'Urso & G Andria
|
|
Abstract
Full Article (PDF)
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|
Meeting Report |
| Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy |
941 |
| Irma Dianzani,
Richard GH Cotton,
Clara Camaschella,
Alberto Ponzone,
Alberto Piazza & Ulf Landegren
|
|
Full Article (PDF)
|
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Corrigendum |
|
944 |
|
|
|
Full Article (PDF)
|
|
Author Index |
|
945 |
|
|
|
Full Article (PDF)
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|
Keyword Index |
|
949 |
|
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Full Article (PDF)
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