Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 8

Results: 17

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 903, doi. 10.1038/sj.ejhg.5200399

By:

Amati, Francesca;
Conti, Emanuela;
Novelli, Antonio;
Bengala, Mario;
Digilio, Maria Cristina;
Marino, Bruno;
Giannotti, Aldo;
Gabrielli, Orazio;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 897, doi. 10.1038/sj.ejhg.5200395

By:

Neerman-Arbez, Marguerite;
Antonarakis, Stylianos E;
Honsberger, Ariane;
Morris, Michael A

Publication type:

Article

MtDNA-related idiopathic dilated cardiomyopathy.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 847, doi. 10.1038/sj.ejhg.5200380

By:

Tessa, Alessandra;
Vilarinho, Laura;
Casali, Carlo;
Santorelli, Filippo M

Publication type:

Article

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 884, doi. 10.1038/sj.ejhg.5200398

By:

Kjaergaard, Susanne;
Skovby, Flemming;
Schwartz, Marianne

Publication type:

Article

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31–q33: exclusion of candidate genes including EGR1.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 849, doi. 10.1038/sj.ejhg.5200382

By:

Guilbot, Angèle;
Ravisé, Nicole;
Bouhouche, Ahmed;
Coullin, Philippe;
Birouk, Nazha;
Maisonobe, Thierry;
Kuntzer, Thierry;
Vial, Christophe;
Grid, Djamel;
Brice, Alexis;
LeGuern, Eric

Publication type:

Article

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 860, doi. 10.1038/sj.ejhg.5200383

By:

Veldhuisen, Barbera;
Spruit, Lia;
Dauwerse, Hans G;
Breuning, Martijn H;
Peters, Dorien JM

Publication type:

Article

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 920, doi. 10.1038/sj.ejhg.5200384

By:

Meuleman, Jan;
Kuhlenbäumer, Gregor;
Schirmacher, Anja;
Wehnert, Manfred;
De Jonghe, Peter;
De Vriendt, Els;
Young, Peter;
Airaksinen, Eila;
Pou-Serradell, Adolfo;
Prats, José-Maria;
Ringelstein, Bernd;
Stögbauer, Florian;
Van Broeckhoven, Christine;
Timmerman, Vincent

Publication type:

Article

Multiple APC mutations in sporadic flat colorectal adenomas.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 928, doi. 10.1038/sj.ejhg.5200386

By:

van Wyk, René;
Slezak, Premysl;
Kotze, Maritha J;
Jaramillo, Edgar;
Koizumi, Koichi;
Grobbelaar, Johanna J

Publication type:

Article

Germline and gonosomal mosaicism in the ATR-X syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 933, doi. 10.1038/sj.ejhg.5200387

By:

Bachoo, Satvinder;
Gibbons, Richard J

Publication type:

Article

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 873

By:

Röthlisberger, Benno;
Kotzot, Dieter;
Brecevic, Lukrecija;
Koehler, Michael;
Balmer, Damina;
Binkert, Franz;
Schinzel, Albert

Publication type:

Article

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 937, doi. 10.1038/sj.ejhg.5200390

By:

De Brasi, D;
Esposito, T;
Rossi, M;
Parenti, G;
Sperandeo, M P;
Zuppaldi, A;
Bardaro, T;
Ambruzzi, M A;
Zelante, L;
Ciccodicola, A;
Sebastio, G;
D'Urso, M;
Andria, G

Publication type:

Article

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G<sup>3145</sup>TG/A<sup>3145</sup>TG).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 889, doi. 10.1038/sj.ejhg.5200392

By:

Stevanin, G;
David, G;
Dürr, A;
Giunti, P;
Benomar, A;
Abada-Bendib, M;
Lee, M S;
Agid, Y;
Brice, A

Publication type:

Article

Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 941, doi. 10.1038/sj.ejhg.5200410

By:

Dianzani, Irma;
Cotton, Richard GH;
Camaschella, Clara;
Ponzone, Alberto;
Piazza, Alberto;
Landegren, Ulf

Publication type:

Article

Probing the Gene eXpression Database for candidate genes.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 8, p. 910, doi. 10.1038/sj.ejhg.5200405

By:

Steensel, Maurice AM van;
Celli, J;
van Bokhoven, J H;
Brunner, H G

Publication type:

Article

Corrigendum.

Published in:

1999

By:

Grierson, A.J.

Publication type:

Correction Notice

Author index.

Published in:: European Journal of Human Genetics, 1999, v. 7, n. 8, p. 945, doi. 10.1038/sj.ejhg.5200413
Publication type:: Article

Keyword index.

Published in:: European Journal of Human Genetics, 1999, v. 7, n. 8, p. 949, doi. 10.1038/sj.ejhg.5200414
Publication type:: Article