Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 11

Results: 17

Cox proportional hazards survival regression in haplotype-based association analysis using the Stochastic-EM algorithm.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 971, doi. 10.1038/sj.ejhg.5201238

By:

Tregouet, D-A;
Tiret, L

Publication type:

Article

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 907, doi. 10.1038/sj.ejhg.5201224

By:

Mann, Kathy;
Donaghue, Celia;
Fox, Susan P;
Docherty, Zoe;
Ogilvie, Caroline Mackie

Publication type:

Article

Accurate determination of microsatellite allele frequencies in pooled DNA samples.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 925, doi. 10.1038/sj.ejhg.5201234

By:

Schnack, Hugo G;
Bakker, Steven C;
van't Slot, Ruben;
Groot, Bart M;
Sinke, Richard J;
Kahn, Rene S;
Pearson, Peter L

Publication type:

Article

Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 935, doi. 10.1038/sj.ejhg.5201236

By:

Hofman, M K;
Groenendijk, M;
Verkuijlen, P J J H;
Jonkers, I J A M;
Mohrschladt, M F;
Smelt, A H M;
Princen, H M G

Publication type:

Article

Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 942, doi. 10.1038/sj.ejhg.5201237

By:

Gellekink, Henkjan;
Heijer, Martin den;
Kluijtmans, Leo A J;
Blom, Henk J

Publication type:

Article

Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aa-chain gene.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 891, doi. 10.1038/sj.ejhg.5201207

By:

Spena, Silvia;
Duga, Stefano;
Asselta, Rosanna;
Peyvandi, Flora;
Mahasandana, Chularatana;
Malcovati, Massimo;
Tenchini, Maria Luisa

Publication type:

Article

Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 949, doi. 10.1038/sj.ejhg.5201239

By:

Weiss, Lauren A;
Veenstra-VanderWeele, Jeremy;
Newman, Dina L;
Kim, Soo-Jeong;
Dytch, Harvey;
McPeek, Mary Sara;
Cheng, Suzanne;
Ober, Carole;
Cook, Edwin H;
Abney, Mark

Publication type:

Article

Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probands.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 955, doi. 10.1038/sj.ejhg.5201241

By:

Bouzigon, Emmanuelle;
xe9;rie#Chaudru, Val&;
Carpentier, Anne-Sophie;
xe9;lène#Dizier, Marie-H&;
Oryszczyn, Marie-Pierre;
Maccario, Jean;
Kauffmann, Francine;
Demenais, Florence

Publication type:

Article

Molecular diversity at the CYP2D6 locus in the Mediterranean region.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 916, doi. 10.1038/sj.ejhg.5201243

By:

Fuselli, Silvia;
Dupanloup, Isabelle;
Frigato, Elena;
Cruciani, Fulvio;
Scozzari, Rosaria;
Moral, Pedro;
Sistonen, Johanna;
Sajantila, Antti;
Barbujani, Guido

Publication type:

Article

The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing.

Published in:

2004

By:

Salto-Tellez, Manuel;
Koay, Evelyn Siew-Chuan

Publication type:

Correction Notice

Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 975, doi. 10.1038/sj.ejhg.5201251

By:

Church, Heather J;
Cooper, Alan;
Stewart, Fiona;
Thornton, Claire M;
Wraith, J Edmund

Publication type:

Article

Deep genomics in shallow times: the finished sequence of human chromosomes 13 and 19.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 875, doi. 10.1038/sj.ejhg.5201254

By:

Semple, Colin A M

Publication type:

Article

Combining the transmission disequilibrium test and case-control methodology using generalized logistic regression.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 964, doi. 10.1038/sj.ejhg.5201255

By:

Nagelkerke, Nico J D;
Hoebee, Barbara;
Teunis, Peter;
Kimman, Tjeerd G

Publication type:

Article

Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 899, doi. 10.1038/sj.ejhg.5201256

By:

Marroni, Fabio;
Aretini, Paolo;
D'Andrea, Emma;
Caligo, Maria Adelaide;
Cortesi, Laura;
Viel, Alessandra;
Ricevuto, Enrico;
Montagna, Marco;
Cipollini, Giovanna;
Federico, Massimo;
Santarosa, Manuela;
Marchetti, Paolo;
Bailey-Wilson, Joan E;
Bevilacqua, Generoso;
Parmigiani, Giovanni;
Presciuttini, Silvano

Publication type:

Article

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201260

By:

Altug Teber, Ö;
Gillessen-Kaesbach, Gabriele;
Fischer, Sven;
Bü#hringer, Stefan;
Albrecht, Beate;
Albert, Angelika;
Arslan-Kirchner, Mine;
Haan, Eric;
Hagedorn-greiwe, Monika;
Hammans, Christof;
Henn, Wolfram;
Hinkel, Georg Klaus;
Rainer König;
Kunstmann, Erdmute;
Kunze, Jürgen;
Neumannw, Kunzew, Luitgard M;
Prott, Eva-christina;
Rauch, Anita;
Rott, Hans-dieter;
Seide, Heide

Publication type:

Article

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 11, p. 979, doi. 10.1038/sj.ejhg.5201257

By:

Zühlke, C H;
Dalski, A;
Habeck, M;
Straube, K;
Hedrich, K;
Hoeltzenbein, M;
Konstanzer, A;
Hellenbroich, Y;
Schwinger, E

Publication type:

Article

The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing.

Published in:

2004

By:

Salto-Tellez, M;
Siew-Chuan Koay, E

Publication type:

Letter