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

Results: 19

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

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

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

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

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

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

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

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

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

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 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

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

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