Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 1

Results: 19

New year, new faces and new copy.

Published in:

2005

By:

van Ommen, GertJan B.

Publication type:

Editorial

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 26, doi. 10.1038/sj.ejhg.5201250

By:

Jacobs, Howard T.;
Hutchin, Timothy P.;
Timo Käppi;
Gillies, Greta;
Minkkinen, Kia;
Walker, John;
Thompson, Karen;
Rovio, Anja T.;
Carella, Massimo;
Melchionda, Salvatore;
Zelante, Leopoldo;
Gasparini, Paolo;
Pyykkö, Ilmari;
Shah, Zahid H.;
Zeviani, Massimo;
Mueller, Robert F.

Publication type:

Article

Screening for FXTAS.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201318

By:

Jacquemont, Sébastien

Publication type:

Article

Situs ambiguus in a female fetus with balanced (X;21) translocation-evidence for functional nullisomy of the ZIC3 gene?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201213

By:

Fritz, Barbara;
Kunz, Jürgen;
Knudsen, Gun Peggy Strømstad;
Louwen, Frank;
Kennerknecht, Ingo;
Eiben, Bernd;
Orstavik, Karen Helene;
Friedrich, Ursula;
Rehder, Helga

Publication type:

Article

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 124, doi. 10.1038/sj.ejhg.5201270

By:

C.#Evans, Julie;
Archer, Hayley L.;
Whatley, Sharon D.;
Kerr, Alison;
Clarke, Angus;
Butler, Rachel

Publication type:

Article

Family-based association study of DYX1C1 variants in autism.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201272

By:

Ylisaukko-oja, Tero;
Peyrard-Janvid, Myriam;
Lindgren, Cecilia M.;
Rehnström, Karola;
Vanhala, Raija;
Peltonen, Leena;
Järvelä, Irma;
Kere, Juha

Publication type:

Article

Overdispersion of allele frequency differences between populations: implications for meta-analyses of genotypic disease associations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 79, doi. 10.1038/sj.ejhg.5201275

By:

Molony, Cliona M.;
Fitzgerald, Anthony P.;
Shields, Denis C.

Publication type:

Article

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201276

By:

Nellist, Mark;
Sancak, Ozgur;
Goedbloed, Miriam A.;
Rohe, Christan;
van Netten, Diana;
Mayer, Karin;
Tucker-Williams, Aimee;
van den Ouweland, Ans M. W.;
Halley, Dicky J. J.

Publication type:

Article

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 6, doi. 10.1038/sj.ejhg.5201279

By:

van Karnebeek, Clara D. M.;
Jansweijer, Maaike C. E.;
Leenders, Arnold G. E.;
Offringa, Martin;
Hennekam, Raoul C. M.

Publication type:

Article

Fc?receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 96, doi. 10.1038/sj.ejhg.5201285

By:

de Rose, Virginia;
Arduino, Carlo;
Cappello, Nazario;
Piana, Rita;
Salmin, Paola;
Bardessono, Marco;
Goia, Manuela;
Padoan, Rita;
Bignamini, Elisabetta;
Costantini, Diana;
Pizzamiglio, Giovanna;
Bennato, Veronica;
Colombo, Carla;
Giunta, AnnaMaria;
Piazza, Alberto

Publication type:

Article

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201281

By:

Vermeulen, Stefan J.;
Speleman, Frank;
Vanransbeeck, Leen;
Verspeet, Jasmien;
Menten, Björn;
Verschraegen-Spae, Marie-Rose;
de Wilde, Philippe;
Messiaen, Ludwine;
Michaelis, Ron C.;
Leroy, Jules G.

Publication type:

Article

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 86, doi. 10.1038/sj.ejhg.5201282

By:

Janošíková, Bohumila;
Zavadáková, Petra;
Kožich, Viktor

Publication type:

Article

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 118, doi. 10.1038/sj.ejhg.5201286

By:

Dalski, Andreas;
Atici, Jassemien;
Kreuz, Friedmar R.;
Hellenbroich, Yorck;
Schwinger, Eberhard;
Christine Zühlke

Publication type:

Article

Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 69, doi. 10.1038/sj.ejhg.5201287

By:

Stuhrmann, Manfred;
Strassburg, Christian;
Schmidtke, Jörg

Publication type:

Article

Interaction between obesity-susceptibility loci in chromosome regions 2p25-p24 and 13q13-q21.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 102, doi. 10.1038/sj.ejhg.5201292

By:

Chuanhui Dong;
Wei-Dong Li;
Ding Li;
Price, R. Arlen

Publication type:

Article

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 41, doi. 10.1038/sj.ejhg.5201293

By:

Luciani, Judith J.;
Depetris, Danielle;
Missirian, Chantal;
Mignon-Ravix, Cécile;
Metzler-Guillemain, Catherine;
Megarbane, André;
Moncla, Anne;
Mattei, Marie-Geneviève

Publication type:

Article

Biological variations, genetic polymorphisms and familial resemblance of TNF-aand IL-6 concentrations: STANISLAS cohort.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 109, doi. 10.1038/sj.ejhg.5201294

By:

Haddy, Nadia;
Sass, Catherine;
Maumus, Sandy;
Marie, Bérangère;
Droesch, Suzanne;
Siest, Gérard;
Lambert, Daniel;
Visvikis, Sophie

Publication type:

Article

Duchenne Muscular Dystrophy: Stalled at the junction?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 4, doi. 10.1038/sj.ejhg.5201304

By:

Ségalat, Laurent;
Anderson, Judy E.

Publication type:

Article

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201312

By:

van Esch, Hilde;
Dom, Rene;
Bex, Dorien;
Salden, Ivo;
Caeckebeke, Jo;
Wibail, Alain;
Borghgraef, Martine;
Legius, Eric;
Fryns, Jean-Pierre;
Matthijs, Gert

Publication type:

Article