Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 5

Results: 25

Epistasis between neurochemical gene polymorphisms and risk for ADHD.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 577, doi. 10.1038/ejhg.2010.250

By:

Segurado, Ricardo;
Bellgrove, Mark A.;
Manconi, Francesca;
Gill, Michael;
Hawi, Ziarah

Publication type:

Article

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237

By:

Rosenfeld, Jill A.;
Stephens, Lindsey E.;
Coppinger, Justine;
Ballif, Blake C;
Hoo, Joe J.;
French, Beatrice N.;
Banks, Valerie C.;
Smith, Wendy E.;
Manchester, David;
Tsai, Anne Chun-Hui;
Merrion, Katrina;
Mendoza-Londono, Roberto;
Dupuis, Lucie;
Schultz, Roger;
Torchia, Beth;
Sahoo, Trilochan;
Bejjani, Bassem;
Weaver, David D.;
Shaffer, Lisa G.

Publication type:

Article

Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 588, doi. 10.1038/ejhg.2010.221

By:

McQuillin, Andrew;
Bass, Nicholas;
Anjorin, Adebayo;
Lawrence, Jacob;
Kandaswamy, Radhika;
Lydall, Greg;
Moran, Jennifer;
Sklar, Pamela;
Purcell, Shaun;
Gurling, Hugh

Publication type:

Article

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 1, doi. 10.1038/ejhg.2011.27

By:

Janssens, A. Cecile J. W.;
Ioannidis, John P. A.;
Bedrdosian, Sara;
Boffetta, Paolo;
Dolan, Siobhan M.;
Dowling, Nicole;
Fortier, Isabel;
Freedman, Andrew N.;
Grimshaw, Jeremy M.;
Gulcher, Jeffrey;
Gwinn, Marta;
Hlatky, Mark A.;
Janes, Holly;
Kraft, Peter;
Melillo, Stephanie;
O'Donnell, Christopher J.;
Pencina, Michael J.;
Ransohoff, David;
Schully, Sheri D.;
Seminara, Daniela

Publication type:

Article

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 593, doi. 10.1038/ejhg.2010.240

By:

Sorice, Rossella;
Bione, Silvia;
Sansanelli, Serena;
Ulivi, Sheila;
Athanasakis, Emmanouil;
Lanzara, Carmela;
Nutile, Teresa;
Sala, Cinzia;
Camaschella, Clara;
D'Adamo, Pio;
Gasparini, Paolo;
Ciullo, Marina;
Toniolo, Daniela

Publication type:

Article

Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 494, doi. 10.1038/ejhg.2010.227

By:

Dorval, Michel;
Noguès, Catherine;
Berthet, Pascaline;
Chiquette, Jocelyne;
Gauthier-Villars, Marion;
Lasset, Christine;
Picard, Claude;
Plante, Marie;
Simard, Jacques;
Julian-Reynier, Claire

Publication type:

Article

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 555, doi. 10.1038/ejhg.2010.252

By:

Kariminejad, Ariana;
Kariminejad, Roxana;
Moshtagh, Azadeh;
Zanganeh, Maryam;
Kariminejad, Mohammad Hassan;
Neuenschwander, Stefan;
Okoniewski, Michal;
Wey, Eva;
Schinzel, Albert;
Baumer, Alessandra

Publication type:

Article

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 602, doi. 10.1038/ejhg.2010.225

By:

Cognet, Marie;
Nougayrede, Agnés;
Malan, Valérie;
Callier, Patrick;
Cretolle, Celia;
Faivre, Laurence;
Genevieve, David;
Goldenberg, Alice;
Heron, Delphine;
Mercier, Sandra;
Philip, Nicole;
Sigaudy8, Sabine;
Verloes, Alain;
Sarnacki, Sabine;
Munnich, Arnold;
Vekemans, Michel;
Lyonnet, Stanislas;
Etchevers, Heather;
Amiel, Jeanne;
de Pontual, Loïc

Publication type:

Article

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 507, doi. 10.1038/ejhg.2010.226

By:

Grasshoff, Ute;
Bonin, Michael;
Goehring, Ina;
Ekici, Arif;
Dufke, Andreas;
Cremer, Kirsten;
Wagner, Nicholas;
Rossier, Eva;
Jauch, Anna;
Walter, Michael;
Bauer, Claudia;
Bauer, Peter;
Horber, Karl;
Beck-Woedl, Stefanie;
Wieczorek, Dagmar

Publication type:

Article

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234

By:

Hastings, Rob;
Cobben, Jan-Maarten;
Gillessen-Kaesbach, Gabriele;
Goodship, Judith;
Hove, Hanne;
Kjaergaard, Susanne;
Kemp, Helena;
Kingston, Helen;
Lunt, Peter;
Mansour, Sahar;
McGowan, Ruth;
Metcalfe, Kay;
Murdoch-Davis, Catherine;
Ray, Mary;
Rio, Marlène;
Smithson, Sarah;
Tolmie, John;
Turnpenny, Peter;
van Bon, Bregje;
Wieczorek, Dagmar

Publication type:

Article

Intellectual disability without epilepsy associated with STXBP1 disruption.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 607, doi. 10.1038/ejhg.2010.183

By:

Hamdan, Fadi F.;
Gauthier, Julie;
Dobrzeniecka, Sylvia;
Lortie, Anne;
Mottron, Laurent;
Vanasse, Michel;
D'Anjou, Guy;
Lacaille, Jean Claude;
Rouleau, Guy A.;
Michaud, Jacques L.

Publication type:

Article

Homozygosity mapping in outbred families with mental retardation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167

By:

Schuurs-Hoeijmakers, Janneke H. M.;
Hehir-Kwa, Jayne Y.;
Pfundt, Rolph;
van Bon, Bregje W. M.;
de Leeuw, Nicole;
Kleefstra, Tjitske;
Willemsen, Michèl A.;
van Kessel, Ad Geurts;
Brunner, Han G.;
Veltman, Joris A.;
van Bokhoven, Hans;
de Brouwer, Arjan P. M.;
de Vries, Bert B. A.

Publication type:

Article

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 540, doi. 10.1038/ejhg.2010.245

By:

Bhoj, Elizabeth J.;
Ramos, Purita;
Baker, Linda A.;
Cost, Nicholas;
Nordenskjöld, Agneta;
Elder, Frederick F.;
Bleyl, Steven B.;
Bowles, Neil E.;
Arrington, Cammon B.;
Delhomme, Brigitte;
Vanhoutteghem, Amandine;
Djian, Philippe;
Zinn, Andrew R.

Publication type:

Article

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 583, doi. 10.1038/ejhg.2010.205

By:

Leutenegger, Anne-Louise;
Sahbatou, Mourad;
Gazal, Steven;
Cann, Howard;
Génin, Emmanuelle

Publication type:

Article

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 561, doi. 10.1038/ejhg.2010.229

By:

Warby, Simon C.;
Visscher, Henk;
Collins, Jennifer A.;
Doty, Crystal N.;
Carter, Catherine;
Butland, Stefanie L.;
Hayden, Anna R.;
Kanazawa, Ichiro;
Ross, Colin J.;
Hayden, Michael R.

Publication type:

Article

The effect of genome-wide association scan quality control on imputation outcome for common variants.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 610, doi. 10.1038/ejhg.2010.242

By:

Southam, Lorraine;
Panoutsopoulou, Kalliope;
Rayner, N. William;
Chapman, Kay;
Durrant, Caroline;
Ferreira, Teresa;
Arden, Nigel;
Carr, Andrew;
Deloukas, Panos;
Doherty, Michael;
Loughlin, John;
McCaskie, Andrew;
Ollier, William E. R.;
Ralston, Stuart;
Spector, Timothy D.;
Valdes, Ana M.;
Wallis, Gillian A.;
Wilkinson, J. Mark;
Marchini, Jonathan;
Zeggini, Eleftheria

Publication type:

Article

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 520, doi. 10.1038/ejhg.2010.239

By:

Hoffjan, Sabine;
Waldmüller, Stephan;
Blankenfeldt, Wulf;
Kötting, Judith;
Gehle, Petra;
Binner, Priska;
Epplen, Joerg T.;
Scheffold, Thomas

Publication type:

Article

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 567, doi. 10.1038/ejhg.2010.233

By:

Coenen, Marieke J. H.;
Tieleman, Alide A.;
Schijvenaars, Mascha M. V. A. P.;
Leferink, Maike;
Ranum, Laura P. W.;
Scheffer, Hans;
van Engelen, Baziel G. M.

Publication type:

Article

Clinical utility gene card for: von Willebrand disease.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 1, doi. 10.1038/ejhg.2010.222

By:

Cumming, Anthony M.;
Keeney, Stephen;
Jenkins, P. Vincent;
Nash, Michael J.;
O'Donnell, James S.

Publication type:

Article

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 525, doi. 10.1038/ejhg.2010.253

By:

Herholz, Jana;
Meloni, Alessandra;
Marongiu, Mara;
Chiappe, Francesca;
Deiana, Manila;
Herrero, Carmen Roche;
Zampino, Giuseppe;
Hamamy, Hanan;
Zalloum, Yusra;
Waaler, Per Erik;
Crisponi, Giangiorgio;
Crisponi, Laura;
Rutsch, Frank

Publication type:

Article

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 500, doi. 10.1038/ejhg.2010.241

By:

Julian-Reynier, Claire;
Mancini, Julien;
Mouret-Fourme, Emmanuelle;
Gauthier-Villars, Marion;
Bonadona, Valérie;
Berthet, Pascaline;
Fricker, Jean-Pierre;
Caron, Olivier;
Luporsi, Elisabeth;
Noguès, Catherine

Publication type:

Article

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 534, doi. 10.1038/ejhg.2010.215

By:

Lynch, Sally Ann;
Foulds, Nicola;
Thuresson, Ann-Charlotte;
Collins, Amanda L.;
Annerén, Göran;
Hedberg, Bernt-Oves;
Delaney, Carol A.;
Iremonger, James;
Murray, Caroline M.;
Crolla, John A.;
Costigan, Colm;
Lam, Wayne;
Fitzpatrick, David R.;
Regan, Regina;
Ennis, Sean;
Sharkey, Freddie

Publication type:

Article

Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 571, doi. 10.1038/ejhg.2010.230

By:

Ottoni, Claudio;
Ricaut, François-X.;
Vanderheyden, Nancy;
Brucato, Nicolas;
Waelkens, Marc;
Decorte, Ronny

Publication type:

Article

Clinical utility gene card for: Diamond Blackfan anemia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 1, doi. 10.1038/ejhg.2010.247

By:

Vlachos, Adrianna;
Dahl, Niklas;
Dianzani, Irma;
Lipton, Jeffrey M.

Publication type:

Article

Clinical utility gene card for: α-1-antitrypsin deficiency.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 1, doi. 10.1038/ejhg.2010.246

By:

Janciauskiene, Sabina;
Ferrarotti, Ilaria;
Laenger, Florian;
Jonigk, Danny;
Luisetti, Maurizio

Publication type:

Article