Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 2

Results: 20

Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 219, doi. 10.1038/ejhg.2008.137

By:

Ryan, Anthony W.;
Hughes, David A.;
Kun Tang;
Kelleher, Dermot P.;
Ryan, Thomas;
McManus, Ross;
Stoneking, Mark

Publication type:

Article

Long-term outcome of presymptomatic testing in Huntington disease.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 165, doi. 10.1038/ejhg.2008.146

By:

Gargiulo, Marcela;
Lejeune, Séverine;
Tanguy, Marie-Laure;
Lahlou-Laforêt, Khadija;
Faudet, Anne;
Cohen, David;
Feingold, Josué;
Durr, Alexandra

Publication type:

Article

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 187, doi. 10.1038/ejhg.2008.147

By:

Shoukier, Moneef;
Neesen, Juergen;
Sauter, Simone M.;
Argyriou, Loukas;
Doerwald, Nadine;
Pantakani, D. V. Krishna;
Mannan, Ashraf U.

Publication type:

Article

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 228, doi. 10.1038/ejhg.2008.148

By:

Xudong Liu;
Novosedlik, Natalia;
Wang, Ami;
Hudson, Melissa L.;
Cohen, Ira L.;
Chudley, Albert E.;
Forster-Gibson, Cynthia J.;
Lewis, Suzanne M. E.;
Holden, Jeanette J. A.

Publication type:

Article

Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 195, doi. 10.1038/ejhg.2008.149

By:

Chiquet, Brett T.;
Hashmi, Syed S.;
Henry, Robin;
Burt, Amber;
Mulliken, John B.;
Stal, Samuel;
Bray, Molly;
Blanton, Susan H.;
Hecht, Jacqueline T.

Publication type:

Article

Common inversion polymorphisms and rare microdeletions at 15q13.3.

Published in:

2009

By:

Makoff, Andrew;
Flomen, Rachel

Publication type:

Letter

A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 172, doi. 10.1038/ejhg.2008.151

By:

Hai-Yan Zhu;
Shi-Wen Wang;
Li Liu;
Yan-Hua Li;
Rui Chen;
Lin Wang;
Holliman, C. James

Publication type:

Article

Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 258, doi. 10.1038/ejhg.2008.152

By:

Sammalisto, Sampo;
Hiekkalinna, Tero;
Schwander, Karen;
Kardia, Sharon;
Weder, Alan B.;
Rodriguez, Beatriz L.;
Doria, Alessandro;
Kelly, Jennifer A.;
Bruner, Gail R.;
Harley, John B.;
Redline, Susan;
Larkin, Emma K.;
Patel, Sanjay R.;
Ewan, Amy J. H.;
Weber, James L.;
Perola, Markus;
Peltonen, Leena

Publication type:

Article

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 159, doi. 10.1038/ejhg.2008.153

By:

Kets, Carolien M.;
Hoogerbrugge, Nicoline;
van Krieken, Joannes H. J. M.;
Goossens, Monique;
Brunner, Han G.;
Ligtenberg, Marjolijn J. L.

Publication type:

Article

The mutation spectrum in RECQL4 diseases.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154

By:

Siitonen, H. Annika;
Sotkasiira, Jenni;
Biervliet, Martine;
Benmansour, Abdelmadjid;
Capri, Yline;
Cormier-Daire, Valerie;
Crandall, Barbara;
Hannula-Jouppi, Katariina;
Hennekam, Raoul;
Herzog, Denise;
Keymolen, Kathelijn;
Lipsanen-Nyman, Marita;
Miny, Peter;
Plon, Sharon E.;
Riedl, Stefan;
Sarkar, Ajoy;
Vargas, Fernando R.;
Verloes, Alain;
Wang, Lisa L.;
Kääriäinen, Helena

Publication type:

Article

A novel missense RAG-1 mutation results in T−B−NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 205, doi. 10.1038/ejhg.2008.150

By:

Zheng Xiao;
Yannone, Steven M.;
Dunn, Elizabeth;
Cowan, Morton J.

Publication type:

Article

Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 250, doi. 10.1038/ejhg.2008.158

By:

Roten, Linda T.;
Johnson, Matthew P.;
Forsmo, Siri;
Fitzpatrick, Elizabeth;
Dyer, Thomas D.;
Brennecke, Shaun P.;
Blangero, John;
Moses, Eric K.;
Austgulen, Rigmor

Publication type:

Article

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 179, doi. 10.1038/ejhg.2008.160

By:

Bonaglia, Maria Clara;
Giorda, Roberto;
Massagli, Angelo;
Galluzzi, Rita;
Ciccone, Roberto;
Zuffardi, Orsetta

Publication type:

Article

Meta-analysis of genome-wide linkage studies across autoimmune diseases.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 236, doi. 10.1038/ejhg.2008.163

By:

Forabosco, Paola;
Bouzigon, Emmanuelle;
Ng, Mandy Y.;
Hermanowski, Jane;
Fisher, Sheila A.;
Criswell, Lindsey A.;
Lewis, Cathryn M.

Publication type:

Article

PTCH1 duplication in a family with microcephaly and mild developmental delay.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 267, doi. 10.1038/ejhg.2008.176

By:

Derwińska, Katarzyna;
Smyk, Marta;
Cooper, Mitchell Lance;
Bader, Patricia;
Sau Wai Cheung;
Stankiewicz, Paweł

Publication type:

Article

The E-cadherin (CDH1) −160 C/A polymorphism and prostate cancer risk: a meta-analysis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 244, doi. 10.1038/ejhg.2008.157

By:

Li-Xin Qiu;
Ru-Tian Li;
Jian-Bing Zhang;
Wen-Zhao Zhong;
Jian-Ling Bai;
Bao-Rui Liu;
Ming-Hua Zheng;
Xiao-Ping Qian

Publication type:

Article

Screening for replication of genome-wide SNP associations in sporadic ALS.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 213, doi. 10.1038/ejhg.2008.194

By:

Cronin, Simon;
Tomik, Barbara;
Bradley, Daniel G.;
Slowik, Agnieszka;
Hardiman, Orla

Publication type:

Article

On Jim Watson's APOE status: genetic information is hard to hide.

Published in:

2009

By:

Nyholt, Dale R.;
Chang-En Yu;
Visscher, Peter M.

Publication type:

Letter

Amyotrophic Lateral Sclerosis: Genome-wide association studies in amyotrophic lateral sclerosis.

Published in:

2009

By:

Dupré, Nicolas;
Valdmanis, Paul

Publication type:

Editorial

Kallmann syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 2, p. 139, doi. 10.1038/ejhg.2008.206

By:

Dodé, Catherine;
Hardelin, Jean-Pierre

Publication type:

Article