Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 5

Results: 21

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.

Published in:

2008

By:

Tomiuk, Jürgen;
Bachmann, Lutz;
Bauer, Claudia;
Rolfs, Arndt;
Schöls, Ludger;
Roos, Christian;
Zischler, Hans;
Schuler, Mathias M;
Bruntner, Silke;
Riess, Olaf;
Bauer, Peter

Publication type:

Erratum

The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 626, doi. 10.1038/sj.ejhg.5201999

By:

Guang Guo;
Xiao-Ming Ou;
Roettger, Michael;
Shih, Jean C.

Publication type:

Article

Evaluation of coverage variation of SNP chips for genome-wide association studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 635, doi. 10.1038/sj.ejhg.5202007

By:

Mingyao Li;
Chun Li;
Weihua Guan

Publication type:

Article

HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 652, doi. 10.1038/sj.ejhg.5202008

By:

van Vliet-Ostaptchouk, Jana V.;
Onland-Moret, N. Charlotte;
van Haeften, Timon W.;
Franke, Lude;
Elbers, Clara C.;
Shiri-Sverdlov, Ronit;
van der Schouw, Yvonne T.;
Hofker, Marten H.;
Wijmenga, Cisca

Publication type:

Article

Searching for genes influencing a complex disease: the case of coeliac disease.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 542, doi. 10.1038/sj.ejhg.5201918

By:

Naluai, Åsa Torinsson;
Ascher, Henry;
Nilsson, Staffan;
Wahlström, Jan

Publication type:

Article

Linkage and association analysis of CACNG3 in childhood absence epilepsy.

Published in:

2008

By:

Everett, Kate;
Chioza, Barry;
Aicardi, Jean;
Aschauer, Harald;
Brouwer, Oebele;
Callenbach, Petra;
Covanis, Athanasios;
Dulac, Olivier;
Eeg-Olofsson, Orvar;
Feucht, Martha;
Friis, Mogens;
Goutieres, Françoise;
Guerrini, Renzo;
Heils, Armin;
Kjeldsen, Marianne;
Lehesjoki, Anna-Elina;
Makoff, Andrew;
Nabbout, Rima;
Olsson, Ingrid;
Sander, Thomas

Publication type:

Erratum

Warfarin Pharmacogenomics: A big step forward for individualized medicine: enlightened dosing of warfarin.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 532, doi. 10.1038/sj.ejhg.5201945

By:

Elias, Darlene J.;
Topol, Eric J.

Publication type:

Article

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 619, doi. 10.1038/sj.ejhg.5201996

By:

Bagnall, Richard D.;
Roberts, Roland G.;
Mirza, Muddassar M.;
Torigoe, Toshihiko;
Prescott, Natalie J.;
Mathew, Christopher G.

Publication type:

Article

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 587, doi. 10.1038/ejhg.2008.26

By:

Steinke, Verena;
Rahner, Nils;
Morak, Monika;
Keller, Gisela;
Schackert, Hans K.;
Görgens, Heike;
Schmiegel, Wolff;
Royer-Pokora, Brigitte;
Dietmaier, Wolfgang;
Kloor, Matthias;
Engel, Christoph;
Propping, Peter;
Aretz, Stefan

Publication type:

Article

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Published in:

2008

By:

Lezirovitz, Karina;
Pardono, Eliete;
de Mello Auricchio, Maria TB;
de Carvalho e Silva, Fernando L;
Lopes, Juliana J;
Abreu-Silva, Ronaldo S;
Romanos, Jihane;
Batissoco, Ana C;
Mingroni-Netto, Regina C

Publication type:

Correction Notice

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 593, doi. 10.1038/sj.ejhg.5202000

By:

Hilgert, Nele;
Topsakal, Vedat;
van Dinther, Joost;
Offeciers, Erwin;
Van de Heyning, Paul;
Van Camp, Guy

Publication type:

Article

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 565, doi. 10.1038/sj.ejhg.5202001

By:

Priolo, Manuela;
Sparago, Angela;
Mammì, Corrado;
Cerrato, Flavia;
Laganà, Carmelo;
Riccio, Andrea

Publication type:

Article

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 572, doi. 10.1038/sj.ejhg.5202002

By:

Steinmann, Katharina;
Kluwe, Lan;
Cooper, David N.;
Brems, Hilde;
De Raedt, Thomas;
Legius, Eric;
Mautner, Viktor-Felix;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

The genetic architecture of fasting plasma triglyceride response to fenofibrate treatment.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 603, doi. 10.1038/sj.ejhg.5202003

By:

Smith, Jennifer A.;
Arnett, Donna K.;
Kelly, Reagan J.;
Ordovas, Jose M.;
Sun, Yan V.;
Hopkins, Paul N.;
Hixson, James E.;
Straka, Robert J.;
Peacock, James M.;
Kardia, Sharon L. R.

Publication type:

Article

Composite measure of linkage disequilibrium for testing interaction between unlinked loci.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 644, doi. 10.1038/sj.ejhg.5202004

By:

Xuesen Wu;
Jin, L.;
Momiao Xiong

Publication type:

Article

Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 581, doi. 10.1038/sj.ejhg.5202005

By:

Mencarelli, Monica;
Walker, Gillian E.;
Maestrini, Sabrina;
Alberti, Luisella;
Verti, Barbara;
Brunani, Amelia;
Petroni, Maria Letizia;
Tagliaferri, Mariantonella;
Liuzzi, Antonio;
Di Blasio, Anna Maria

Publication type:

Article

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 614, doi. 10.1038/sj.ejhg.5202006

By:

Lawson-Yuen, Amy;
Saldivar, Juan-Sebastian;
Sommer, Steve;
Picker, Jonathan

Publication type:

Article

Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 531, doi. 10.1038/ejhg.2008.46

By:

Scott, Rodney J.

Publication type:

Article

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 535, doi. 10.1038/ejhg.2008.10

By:

Porter, Forbes D.

Publication type:

Article

The success of the genome-wide association approach: a brief story of a long struggle.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 5, p. 554, doi. 10.1038/ejhg.2008.12

By:

Ku Chee Seng;
Chia Kee Seng

Publication type:

Article

Memories from our genes: Genes, Culture, and Human Evolution: A Synthesis.

Published in:

2008

By:

Novelli, Giuseppe;
Contino, Gianmarco

Publication type:

Book Review