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| Letter |
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| MtDNA-related idiopathic dilated cardiomyopathy FREE |
| Alessandra Tessa, Laura Vilarinho, Carlo Casali & Filippo M Santorelli |
| Abstract | PDF |
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| 847 |
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| Articles |
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| Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1 FREE |
| Angèle Guilbot, Nicole Ravisé, Ahmed Bouhouche, Philippe Coullin, Nazha Birouk, Thierry Maisonobe, Thierry Kuntzer, Christophe Vial, Djamel Grid, Alexis Brice & Eric LeGuern |
| Abstract | PDF |
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| 849 |
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| Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2) FREE |
| Barbera Veldhuisen, Lia Spruit, Hans G Dauwerse, Martijn H Breuning & Dorien JM Peters |
| Abstract | PDF |
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| 860 |
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| Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes FREE |
| Benno Röthlisberger, Dieter Kotzot, Lukrecija Brecevic, Michael Koehler, Damina Balmer, Franz Binkert & Albert Schinzel |
| Abstract | PDF |
|
| 873 |
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| Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli FREE |
| Susanne Kjaergaard, Flemming Skovby & Marianne Schwartz |
| Abstract | PDF |
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| 884 |
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| Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG) FREE |
| G Stevanin, G David, A Dürr, P Giunti, A Benomar, M Abada-Bendib, M S Lee, Y Agid & A Brice |
| Abstract | PDF |
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| 889 |
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| The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster FREE |
| Marguerite Neerman-Arbez, Stylianos E Antonarakis, Ariane Honsberger & Michael A Morris |
| Abstract | PDF |
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| 897 |
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| Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome FREE |
| Francesca Amati, Emanuela Conti, Antonio Novelli, Mario Bengala, Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Orazio Gabrielli, Giuseppe Novelli & Bruno Dallapiccola |
| Abstract | PDF |
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| 903 |
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| Probing the Gene eXpression Database for candidate genes FREE |
| Maurice AM van Steensel, J Celli, J H van Bokhoven & H G Brunner |
| Abstract | PDF |
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| 910 |
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| Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25 FREE |
| 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 | PDF |
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| 920 |
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| Short report |
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| Multiple APC mutations in sporadic flat colorectal adenomas FREE |
| René van Wyk, Premysl Slezak, Maritha J Kotze, Edgar Jaramillo, Koichi Koizumi & Johanna J Grobbelaar |
| Abstract | PDF |
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| 928 |
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| Germline and gonosomal mosaicism in the ATR-X syndrome FREE |
| Satvinder Bachoo & Richard J Gibbons |
| Abstract | PDF |
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| 933 |
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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of  7-sterol reductase in Italy and report of three novel mutations FREE |
| D De Brasi, T Esposito, M Rossi, G Parenti, M P Sperandeo, A Zuppaldi, T Bardaro, M A Ambruzzi, L Zelante, A Ciccodicola, G Sebastio, M D'Urso & G Andria |
| Abstract | PDF |
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| 937 |
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| Meeting report |
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| Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy FREE |
| Irma Dianzani, Richard GH Cotton, Clara Camaschella, Alberto Ponzone, Alberto Piazza & Ulf Landegren |
| Abstract | PDF |
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| 941 |
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| Corrigendum |
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| Corrigendum FREE |
| Abstract | PDF |
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| 944 |
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| Author index |
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| Author index FREE |
| Abstract | PDF |
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| 945 |
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| Keyword index |
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| Keyword index FREE |
| Abstract | PDF |
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| 949 |
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| December 1999, Volume 7, Number 8 |
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