Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 5

Results: 17

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 561, doi. 10.1038/sj.ejhg.5201568

By:

Plaschke, Jens;
Linnebacher, Michael;
Kloor, Matthias;
Gebert, Johannes;
Cremer, Friedrich W;
Tinschert, Sigrid;
Aust, Daniela E;
von Knebel Doeberitz, Magnus;
Schackert, Hans K

Publication type:

Article

Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 577, doi. 10.1038/sj.ejhg.5201572

By:

Immel, Uta-Dorothee;
Krawczak, Michael;
Udolph, Jürgen;
Richter, Angela;
Rodig, Heike;
Kleiber, Manfred;
Klintschar, Michael

Publication type:

Article

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201577

By:

Hampshire, Daniel J;
Ayub, Mohammed;
Springell, Kelly;
Roberts, Emma;
Jafri, Hussain;
Rashid, Yasmin;
Bond, Jacquelyn;
Riley, John H;
Woods, C Geoffrey

Publication type:

Article

A text-mining analysis of the human phenome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 535, doi. 10.1038/sj.ejhg.5201585

By:

van Driel, Marc A;
Bruggeman, Jorn;
Vriend, Gert;
Brunner, Han G;
Leunissen, Jack A M

Publication type:

Article

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 549, doi. 10.1038/sj.ejhg.5201586

By:

Robertson, Stephen P;
Thompson, Sarah;
Morgan, Timothy;
Holder-Espinasse, Muriel;
Martinot-Duquenoy, Véronique;
Wilkie, Andrew O M;
Manouvrier-Hanu, Sylvie

Publication type:

Article

Schizophrenia genetics: uncovering positional candidate genes.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 512, doi. 10.1038/sj.ejhg.5201587

By:

Karayiorgou, Maria;
Gogos, Joseph A

Publication type:

Article

Clinical genetics: Medical genetics.

Published in:

2006

By:

Stoll, Claude

Publication type:

Book Review

Human Genome: Which proteins contribute to human-chimpanzee differences?

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 506, doi. 10.1038/sj.ejhg.5201596

By:

Fay, Justin

Publication type:

Article

Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 507, doi. 10.1038/sj.ejhg.5201597

By:

Tassabehji, May;
Donnai, Dian

Publication type:

Article

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 588, doi. 10.1038/sj.ejhg.5201598

By:

Soini, Sirpa;
Ibarreta, Dolores;
Anastasiadou, Violetta;
Aymé, Ségolène;
Braga, Suzanne;
Cornel, Martina;
Coviello, Domenico A;
Evers-Kiebooms, Gerry;
Geraedts, Joep;
Gianaroli, Luca;
Harper, Joyce;
Kosztolanyi, György;
Lundin, Kersti;
Rodrigues-Cerezo, Emilio;
Sermon, Karen;
Sequeiros, Jorge;
Tranebjaerg, Lisbeth;
Kääriäinen, Helena

Publication type:

Article

The need for interaction between assisted reproduction technology and genetics.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 509, doi. 10.1038/sj.ejhg.5201600

By:

Kääriäinen, H

Publication type:

Article

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590

By:

Férec, Claude;
Casals, Teresa;
Chuzhanova, Nadia;
Macek Jr., Milan;
Bienvenu, Thierry;
Holubova, Andrea;
King, Caitriona;
McDevitt, Trudi;
Castellani, Carlo;
Farrell, Philip M;
Sheridan, Molly;
Pantaleo, Sarah-Jane;
Loumi, Ourida;
Messaoud, Taieb;
Cuppens, Harry;
Torricelli, Francesca;
Cutting, Garry R;
Williamson, Robert;
Ramos, Maria Jesus Alonso;
Pignatti, Pier Franco

Publication type:

Article

Use of phenotypic covariates in association analysis by sequential addition of cases.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 529, doi. 10.1038/sj.ejhg.5201604

By:

Macgregor, Stuart;
Craddock, Nick;
Holmans, Peter A

Publication type:

Article

New variants in the mitochondrial genomes of schizophrenic patients.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 520, doi. 10.1038/sj.ejhg.5201606

By:

Martorell, Lourdes;
Segués, Teresa;
Folch, Gerard;
Valero, Joaquín;
Joven, Jorge;
Labad, Antonio;
Vilella, Elisabet

Publication type:

Article

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 555, doi. 10.1038/sj.ejhg.5201607

By:

Vanmolkot, Kaate R J;
Kors, Esther E;
Turk, Ulku;
Turkdogan, Dylsad;
Keyser, Antoine;
Broos, Ludo A M;
Kia, Sima Kheradmand;
van den Heuvel, Jeroen J M W;
Black, David F;
Haan, Joost;
Frants, Rune R;
Barone, Virginia;
Ferrari, Michel D;
Casari, Giorgio;
Koenderink, Jan B;
van den Maagdenberg, Arn M J M

Publication type:

Article

A novel mutation in JARID1C gene associated with mental retardation.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 5, p. 583, doi. 10.1038/sj.ejhg.5201608

By:

Santos, Cristina;
Rodriguez-Revenga, Laia;
Madrigal, Irene;
Badenas, Celia;
Pineda, Merce;
Milà, Montserrat

Publication type:

Article

Assisted reproduction and genetics.

Published in:

2006

By:

Kääriäinen, Helena

Publication type:

Editorial