Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 7

Results: 12

Founder mutations among the Dutch.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 591, doi. 10.1038/sj.ejhg.5201151

By:

Zeegers, Maurice PA;
van Poppel, Frans;
Vlietinck, Robert;
Spruijt, Liesbeth;
Ostrer, Harry

Publication type:

Article

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 551, doi. 10.1038/sj.ejhg.5201174

By:

Tipney, Hannah J.;
Hinsley, Timothy A.;
Brass, Andrew;
Metcalfe, Kay;
Donnai, Dian;
Tassabehji, May

Publication type:

Article

Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 513, doi. 10.1038/sj.ejhg.5201178

By:

Lebedev, Igor N.;
Ostroverkhova, Nadezhda V.;
Nikitina, Tatyana V.;
Sukhanova, Natalia N.;
Nazarenko, Sergey A.

Publication type:

Article

Association between schizophrenia and DRD3 or HTR2 receptor gene variants.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 535, doi. 10.1038/sj.ejhg.5201180

By:

Baritaki, S;
Rizos, E;
Zafiropoulos, A;
Soufla, G;
Katsafouros, K;
Gourvas, V;
Spandidos, DA

Publication type:

Article

Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 521, doi. 10.1038/sj.ejhg.5201187

By:

Gaspar, Dinamar A.;
Matioli, Sergio R.;
Pavanello, Rita de Cássia;
Araújo, Belmino C.;
Alonso, Nivaldo;
Wyszynski, Diego;
Passos-Bueno, Maria Rita

Publication type:

Article

Linkage disequilibrium in young genetically isolated Dutch population.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 527, doi. 10.1038/sj.ejhg.5201188

By:

Aulchenko, Yurii S.;
Heutink, Peter;
Mackay, Ian;
Bertoli-Avella, Aida M.;
Pullen, Jan;
Vaessen, Norbert;
Rademaker, Tessa AM;
Sandkuijl, Lodewijk A.;
Cardon, Lon;
Oostra, Ben;
van Duijn, Cornelia M.

Publication type:

Article

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 561, doi. 10.1038/sj.ejhg.5201189

By:

Fogli, Anne;
Schiffmann, Raphael;
Hugendubler, Lynne;
Combes, Patricia;
Bertini, Enrico;
Rodriguez, Diana;
Kimball, Scot R.;
Boespflug-Tanguy, Odile

Publication type:

Article

Are common disease susceptibility alleles the same in outbred and founder populations?

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 584, doi. 10.1038/sj.ejhg.5201191

By:

Newman, Dina L.;
Hoffjan, Sabine;
Bourgain, Catherine;
Abney, Mark;
Nicolae, Raluca I.;
Profits, Elle T.;
Grow, Michael A.;
Walker, Karen;
Steiner, Lori;
Parry, Rodney;
Reynolds, Rebecca;
McPeek, Mary Sara;
Cheng, Suzanne;
Ober, Carole

Publication type:

Article

β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 567, doi. 10.1038/sj.ejhg.5201192

By:

Van Moorsel, Coline HM;
Van Wijngaarden, Erwin E.;
Ivo Fac Fokkema;
Den Dunnen, Johan T.;
Roos, Dirk;
van Zwieten, Rob;
Giordano, Piero C.;
Harteveld, Cornelis L.

Publication type:

Article

Efficient two-trait-locus linkage analysis through program optimization and parallelization: application to hypercholesterolemia.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 542, doi. 10.1038/sj.ejhg.5201196

By:

Dietter, Johannes;
Spiegel, Alexander;
an Mey, Dieter;
Pflug, Hans-Joachim;
Al-Kateb, Hussam;
Hoffmann, Katrin;
Wienker, Thomas F.;
Strauch, Konstantin

Publication type:

Article

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4?Mb region.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 574, doi. 10.1038/sj.ejhg.5201197

By:

Michon, Laetitia;
Morl&eacute, Laurette;
Bozon, Muriel;
Duret, Laurent;
Zech, Jean-Christophe;
Godet, Jacqueline;
Plauchu, Henry;
Edery, Patrick

Publication type:

Article

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 579, doi. 10.1038/sj.ejhg.5201200

By:

Novell, Antonio;
Valente, Enza Maria;
bERNARDINI, Laura;
Ceccarini, Caterina;
Sinibaldi, Lorenzo;
Caputo, Viviana;
Cavalli, Pietro;
Dallapiccola, Bruno

Publication type:

Article