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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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