Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 11

Results: 19

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1202, doi. 10.1038/ejhg.2010.107
By:
- Keller, Lina;
- Welander, Hedvig;
- Huei-Hsin Chiang;
- Tjernberg, Lars O.;
- Nennesmo, Inger;
- Wallin, Åsa K.;
- Graff, Caroline
Publication type:
Article
Population structure and genome-wide patterns of variation in Ireland and Britain.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1248, doi. 10.1038/ejhg.2010.87
By:
- O'Dushlaine, Colm T.;
- Morris, Derek;
- Moskvina, Valentina;
- Kirov, George;
- Gill, Michael;
- Corvin, Aiden;
- Wilson, James F.;
- Cavalleri, Gianpiero L.
Publication type:
Article
Genetic male infertility and mutation of CATSPER ion channels.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1178, doi. 10.1038/ejhg.2010.108
By:
- Hildebrand, Michael S.;
- Avenarius, Matthew R.;
- Fellous, Marc;
- Yuzhou Zhang;
- Meyer, Nicole C.;
- Auer, Jana;
- Serres, Catherine;
- Kahrizi, Kimia;
- Najmabadi, Hossein;
- Beckmann, Jacques S.;
- Smith, Richard J. H.
Publication type:
Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
By:
- Duker, Angela L.;
- Ballif, Blake C.;
- Bawle, Erawati V.;
- Person, Richard E.;
- Mahadevan, Sangeetha;
- Alliman, Sarah;
- Thompson, Regina;
- Traylor, Ryan;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.;
- Rosenfeld, Jill A.;
- Lamb, Allen N.;
- Sahoo, Trilochan
Publication type:
Article
5q11.2 deletion in a patient with tracheal agenesis.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1265, doi. 10.1038/ejhg.2010.84
By:
- de Jong, Elisabeth M.;
- Douben, Hannie;
- Eussen, Bert H.;
- Felix, Janine F.;
- Wessels, Marja W.;
- Poddighe, Pino J.;
- Nikkels, Peter G. J.;
- de Krijger, Ronald R.;
- Tibboel, Dick;
- de Klein, Annelies
Publication type:
Article
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1216, doi. 10.1038/ejhg.2010.96
By:
- Carr, Christopher W.;
- Moreno-De-Luca, Daniel;
- Parker, Colette;
- Zimmerman, Holly H.;
- Ledbetter, Nikki;
- Martin, Christa Lese;
- Dobyns, William B.;
- Abdul-Rahman, Omar A.
Publication type:
Article
Corrigendum to: EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Published in:
2010
Publication type:
Correction Notice
Chadic languages and Y haplogroups.
Published in:
2010
By:
- Lancaster, Andrew
Publication type:
Letter
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1236, doi. 10.1038/ejhg.2010.94
By:
- Marques-Pinheiro, Alice;
- Marduel, Marie;
- Rabès, Jean-Pierre;
- Devillers, Martine;
- Villéger, Ludovic;
- Allard, Delphine;
- Weissenbach, Jean;
- Guerin, Maryse;
- Zair, Yassine;
- Erlich, Danièle;
- Junien, Claudine;
- Munnich, Arnold;
- Krempf, Michel;
- Abifadel, Marianne;
- Jaïs, Jean-Philippe;
- Boileau, Catherine;
- Varret, Mathilde
Publication type:
Article
Genes predict village of origin in rural Europe.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1269, doi. 10.1038/ejhg.2010.92
By:
- O'Dushlaine, Colm;
- McQuillan, Ruth;
- Weale, Michael E.;
- Crouch, Daniel J. M.;
- Johansson, Åsa;
- Aulchenko, Yurii;
- Franklin, Christopher S.;
- Pola&;#x0161;ek, Ozren;
- Fuchsberger, Christian;
- Corvin, Aiden;
- Hicks, Andrew A.;
- Vitart, Veronique;
- Hayward, Caroline;
- Wild, Sarah H.;
- Meitinger, Thomas;
- van Duijn, Cornelia M.;
- Gyllensten, Ulf;
- Wright, Alan F.;
- Campbell, Harry;
- Pramstaller, Peter P.
Publication type:
Article
Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1243, doi. 10.1038/ejhg.2010.97
By:
- Cummings, Nik;
- Dyer, Thomas D.;
- Kotea, Navaratnam;
- Kowlessur, Sudhir;
- Chitson, Pierrot;
- Zimmet, Paul;
- Blangero, John;
- Jowett, Jeremy B. M.
Publication type:
Article
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1173, doi. 10.1038/ejhg.2010.8
By:
- Sequeiros, Jorge;
- Martindale, Joanne;
- Seneca, Sara
Publication type:
Article
Hypothetical and factual willingness to participate in biobank research.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1261, doi. 10.1038/ejhg.2010.106
By:
- Johnsson, Linus;
- Helgesson, Gert;
- Rafnar, Thorunn;
- Halldorsdottir, Ingibjorg;
- Kee-Seng Chia;
- Eriksson, Stefan;
- Hansson, Mats G.
Publication type:
Article
Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1209, doi. 10.1038/ejhg.2010.91
By:
- Summers, Kim M.;
- Raza, Sobia;
- van Nimwegen, Erik;
- Freeman, Thomas C.;
- Hume, David A.
Publication type:
Article
Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1221, doi. 10.1038/ejhg.2010.98
By:
- Silva, Luciano K.;
- Blanton, Ronald E.;
- Parrado, Antonio R.;
- Melo, Paulo S.;
- Morato, Vanessa G.;
- Reis, Eliana A. G.;
- Dias, Juarez P.;
- Castro, Jesuina M.;
- Vasconcelos, Pedro F. C.;
- Goddard, Katrina A. B.;
- Barreto, Maurício L.;
- Reis, Mitermayer G.;
- Teixeira, M. Glória
Publication type:
Article
Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1228, doi. 10.1038/ejhg.2010.95
By:
- Low, Daren;
- Ken-Shiung Chen
Publication type:
Article
Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1188, doi. 10.1038/ejhg.2010.10
By:
- Sequeiros, Jorge;
- Seneca, Sara;
- Martindale, Joanne
Publication type:
Article
Reply to Lancaster.
Published in:
2010
By:
- Cruciani, Fulvio;
- Trombetta, Beniamino;
- Sellitto, Daniele;
- Massaia, Andrea;
- Destro-Bisol, Giovanni;
- Watson, Elizabeth;
- Colomb, Eliane Beraud;
- Dugoujon, Jean-Michel;
- Moral, Pedro;
- Scozzari, Rosaria
Publication type:
Letter
A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1255, doi. 10.1038/ejhg.2010.93
By:
- Chao Qiang Jiang;
- Bin Liu;
- Cheung, Bernard M. Y.;
- Tai Hing Lam;
- Jie Ming Lin;
- Ya Li Jin;
- Xiao Jun Yue;
- Kwok Leung Ong;
- Tam, Sidney;
- Ka Sing Wong;
- Tomlinson, Brian;
- Lam, Karen S. L.;
- Thomas, G. Neil
Publication type:
Article