Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 1

Results: 22

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 123, doi. 10.1038/sj.ejhg.5201444

By:

Blasi, Francesca;
Bacchelli, Elena;
Carone, Simona;
Toma, Claudio;
Monaco, Anthony P.;
Bailey, Anthony J.;
Maestrini, Elena

Publication type:

Article

A review of international and UK-based ethical guidelines for researchers conducting nontherapeutic genetic studies in developing countries.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 9, doi. 10.1038/sj.ejhg.5201497

By:

Choudhury, Shormila Roy;
Knapp, Leslie A.

Publication type:

Article

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 85, doi. 10.1038/sj.ejhg.5201498

By:

Pompei, Fiorenza;
Ciminelli, Bianca Maria;
Bombieri, Cristina;
Ciccacci, Cinzia;
Koudova, Monika;
Giorgi, Silvia;
Belpinati, Francesca;
Begnini, Angela;
Cerny, Milos;
Des Georges, Marie;
Claustres, Mireille;
Ferec, Claude;
Macek, Milan;
Modiano, Guido;
Pignatti, Pier Franco

Publication type:

Article

Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 101, doi. 10.1038/sj.ejhg.5201499

By:

Garner, Chad;
Best, Steve;
Menzel, Stephan;
Rooks, Helen;
Spector, Tim D.;
Thein, Swee Lay

Publication type:

Article

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201502

By:

Disabella, Eliana;
Grasso, Maurizia;
Marziliano, Nicola;
Ansaldi, Silvia;
Lucchelli, Claudia;
Porcu, Emanuele;
Tagliani, Marilena;
Pilotto, Andrea;
Diegoli, Marta;
Lanzarini, Luca;
Malattia, Clara;
Pelliccia, Antonio;
Ficcadenti, Anna;
Gabrielli, Orazio;
Arbustini, Eloisa

Publication type:

Article

Analysing DNA patents in relation with diagnostic genetic testing.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 26, doi. 10.1038/sj.ejhg.5201503

By:

Verbeure, Birgit;
Matthijs, Gert;
Van Overwalle, Geertrui

Publication type:

Article

Replication of IGF2-INS-TH<sup>*</sup>5 haplotype effect on obesity in older men and study of related phenotypes.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 109, doi. 10.1038/sj.ejhg.5201505

By:

Rodríguez, Santiago;
Gaunt, Tom R.;
Dennison, Elaine;
Xiao-He Chen;
Syddall, Holly E.;
Phillips, David I. W.;
Cooper, Cyrus;
Day, Ian N. M.

Publication type:

Article

Genetics of human heterotaxias.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 17, doi. 10.1038/sj.ejhg.5201506

By:

Lirong Zhu;
Belmont, John W.;
Ware, Stephanie M.

Publication type:

Article

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 39, doi. 10.1038/sj.ejhg.5201507

By:

Kress, Wolfram;
Schropp, Christian;
Lieb, Gabriele;
Petersen, Birgit;
Büsse-Ratzka, Maria;
Kunz, Jürgen;
Reinhart, Edeltraut;
Schäfer, Wolf-Dieter;
Sold, Johanna;
Hoppe, Florian;
Pahnke, Jan;
Trusen, Andreas;
Sörensen, Niels;
Krauss, Jürgen;
Collmann, Hartmut

Publication type:

Article

Evidence of genetic enrichment for exceptional survival using a family approach: the Leiden Longevity Study.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 79, doi. 10.1038/sj.ejhg.5201508

By:

Schoenmaker, Manja;
de Craen, Anton J. M.;
de Meijer, Paul H. E. M.;
Beekman, Marian;
Blauw, Gerard J.;
Slagboom, P. Eline;
Westendorp, Rudi G. J.

Publication type:

Article

Improving the accuracy of BRCA1/2 mutation prediction: validation of the novel country-customized IC software.

Published in:

2006

By:

Capalbo, Carlo;
Ricevuto, Enrico;
Vestri, Annarita;
Sidoni, Tina;
Buffone, Amelia;
Cortesi, Enrico;
Marchetti, Paolo;
Scambia, Giovanni;
Tomao, Silverio;
Rinaldi, Christian;
Zani, Massimo;
Ferraro, Sergio;
Frati, Luigi;
Screpanti, Isabella;
Gulino, Alberto;
Giannini, Giuseppe

Publication type:

Letter

On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201513

By:

Trabetti, Elisabetta;
Biscuola, Michele;
Cavallari, Ugo;
Malerba, Giovanni;
Girelli, Domenico;
Olivieri, Oliviero;
Martinelli, Nicola;
Corrocher, Roberto;
Pignatti, Pier Franco

Publication type:

Article

Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 55, doi. 10.1038/sj.ejhg.5201515

By:

Jalkanen, Reetta;
Pronicka, Ewa;
Tyynismaa, Henna;
Hanauer, Andre;
Walder, Roxanne;
Alitalo, Tiina

Publication type:

Article

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 63, doi. 10.1038/sj.ejhg.5201517

By:

Pastrello, Chiara;
Baglioni, Silvana;
Tibiletti, Maria Grazia;
Papi, Laura;
Fornasarig, Mara;
Morabito, Alberto;
Agostini, Marco;
Genuardi, Maurizio;
Viel, Alessandra

Publication type:

Article

Reply to Bottomley et al.

Published in:

2006

By:

Shastry, Barkur S.;
Trese, Michael T.

Publication type:

Letter

Association of β<sub>2</sub> adrenergic receptor polymorphisms and related haplotypes with triglyceride and LDL-cholesterol levels.

Published in:

2006

By:

Petrone, Antonio;
Zavarella, Sara;
Iacobellis, Gianluca;
Zampetti, Simona;
Vania, Andrea;
Di Pietro, Sergio;
Galgani, Andrea;
Leonetti, Frida;
Di Mario, Umberto;
Buzzetti, Raffaella

Publication type:

Letter

Genome-wide linkage scan for spontaneous DZ twinning.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 117, doi. 10.1038/sj.ejhg.5201522

By:

Derom, Catherine;
Jawaheer, Damini;
Chen, Wei V.;
McBride, Kim L.;
Xiangli Xiao;
Amos, Chris;
Gregersen, Peter K.;
Vlietinck, Robert

Publication type:

Article

Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’.

Published in:

2006

By:

Bottomley, Helen M.;
Downey, Louise M.;
Inglehearn, Chris F.;
Toomes, Carmel

Publication type:

Letter

Clock genes as a link between addiction and obesity.

Published in:

2006

By:

Manev, Hari;
Uz, Tolga

Publication type:

Letter

Cancer Transcriptomics: Modeling metastasis.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 1, doi. 10.1038/sj.ejhg.5201525

By:

Ramaswamy, Sridhar

Publication type:

Article

Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 69, doi. 10.1038/sj.ejhg.5201527

By:

Chadha, Sapna;
Miller, Katie;
Farwell, Lisa;
Sacks, Steven;
Daly, Mark J.;
Rioux, John D.;
Vyse, Timothy J.

Publication type:

Article

Mouse models: Psoriasis: an epidermal disease after all?

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201543

By:

Gudjonsson, Johann E.;
Elder, James T.

Publication type:

Article