Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 11

Results: 11

Deletion and duplication screening in the DMD gene using MLPA.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1231, doi. 10.1038/sj.ejhg.5201465

By:

Lalic, Tanja;
Vossen, Rolf H. A. M.;
Coffa, Jordy;
Schouten, Jan P.;
Guc-Scekic, Marija;
Radivojevic, Danijela;
Djurisic, Marina;
Breuning, Martÿn H;
White, Stefan J.;
den Dunnen, Johan T.

Publication type:

Article

Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1192, doi. 10.1038/sj.ejhg.5201473

By:

Bartsch, Oliver;
Loitzsch, Anne;
Kozlowski, Peter;
Mazauric, Marie-Luise;
Hickmann, Gabriele

Publication type:

Article

p.R270X MECP2 mutation and mortality in Rett syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1235, doi. 10.1038/sj.ejhg.5201479

By:

Le Jian;
Archer, Hayley L.;
Ravine, David;
Kerr, Alison;
de Klerk, Nick;
Christodoulou, John;
Bailey, Mark E. S.;
Laurvick, Crystal;
Leonard, Helen

Publication type:

Article

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1186, doi. 10.1038/sj.ejhg.5201480

By:

Faivre, Laurence;
Saugier-Veber, Pascale;
Pais de Barros, Jean-Paul;
Verges, Bruno;
Couret, Bertrand;
Lorcerie, Bernard;
Thauvin, Christel;
Charbonnier, Françoise;
Huet, Frédéric;
Gambert, Philippe;
Frebourg, Thierry;
Duvillard, Laurence

Publication type:

Article

Association of the TSHR gene with Graves' disease: the first disease specific locus.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1223, doi. 10.1038/sj.ejhg.5201485

By:

Dechairo, Bryan M.;
Zabaneh, Delilah;
Collins, Joanne;
Brand, Oliver;
Dawson, Gary J.;
Green, Angie P.;
Mackay, Ian;
Franklyn, Jayne A.;
Connell, John M.;
Wass, John A. H.;
Wiersinga, Wilmar M.;
Hegedus, Laszlo;
Brix, Thomas;
Robinson, Bruce G.;
Hunt, Penny J.;
Weetman, Anthony P.;
Carey, Alisoun H.;
Gough, Stephen C.

Publication type:

Article

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1239, doi. 10.1038/sj.ejhg.5201486

By:

Ghassibé, Michella;
Bayet, Benedicte;
Revencu, Nicole;
Verellen-Dumoulin, Christine;
Gillerot, Yves;
Vanwijck, Romain;
Vikkula, Miikka

Publication type:

Article

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.

Published in:

2005

By:

Koolen, David A..;
Knoers, Nine V. A. M.;
Nillesen, Willy M.;
Slabbers, Gordon H. P. R.;
Smeets, Dominique;
de Leeuw, Nicole;
Sistermans, Erik A.;
de Vries, Bert B. A.

Publication type:

Letter

Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1205, doi. 10.1038/sj.ejhg.5201488

By:

Baptista, Julia;
Prigmore, Elena;
Gribble, Susan M.;
Jacobs, Patricia A.;
Carter, Nigel P.;
Crolla, John A.

Publication type:

Article

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1213, doi. 10.1038/sj.ejhg.5201489

By:

Gouas, Laetitia;
Nicaud, Viviane;
Berthet, Myriam;
Forhan, Anne;
Tiret, Laurence;
Balkau, Beverley;
Guicheney, Pascale

Publication type:

Article

The molecular genetics of haemochromatosis.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1172, doi. 10.1038/sj.ejhg.5201490

By:

Le Gac, Gérald;
Férec, Claude

Publication type:

Article

Technology: A genome sequencing center in every lab.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1167, doi. 10.1038/sj.ejhg.5201504

By:

Zwick, Michael E.

Publication type:

Article