Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 7

Results: 20

Genomic inflation factors under polygenic inheritance.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 807, doi. 10.1038/ejhg.2011.39

By:

Yang, Jian;
Weedon, Michael N.;
Purcell, Shaun;
Lettre, Guillaume;
Estrada, Karol;
Willer, Cristen J.;
Smith, Albert V.;
Ingelsson, Erik;
O'Connell, Jeffrey R.;
Mangino, Massimo;
Mägi, Reedik;
Madden, Pamela A.;
Heath, Andrew C.;
Nyholt, Dale R.;
Martin, Nicholas G.;
Montgomery, Grant W.;
Frayling, Timothy M.;
Hirschhorn, Joel N.;
McCarthy, Mark I.;
Goddard, Michael E.

Publication type:

Article

The expanded human disease network combining protein-protein interaction information.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 783, doi. 10.1038/ejhg.2011.30

By:

Zhang, Xuehong;
Zhang, Ruijie;
Jiang, Yongshuai;
Sun, Peng;
Tang, Guoping;
Wang, Xing;
Lv, Hongchao;
Li, Xia

Publication type:

Article

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 769, doi. 10.1038/ejhg.2011.18

By:

Swalwell, Helen;
Kirby, Denise M.;
Blakely, Emma L.;
Mitchell, Anna;
Salemi, Renato;
Sugiana, Canny;
Compton, Alison G.;
Tucker, Elena J;
Ke, Bi-Xia;
Lamont, Phillipa J.;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W.;
Thorburn, David R.

Publication type:

Article

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 820, doi. 10.1038/ejhg.2011.33

By:

van de Meerakker, Judith B. A.;
van Engelen, Klaartje;
Mathijssen, Inge B.;
Lekanne dit Deprez, Ronald H.;
Lam, Jan;
Wilde, Arthur A. M.;
Baars, Marieke J. H.;
Mannens, Marcel M. A. M.;
Mulder, Barbara J. M.;
Moorman, Antoon F. M.;
Postma, Alex V.

Publication type:

Article

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 763, doi. 10.1038/ejhg.2011.20

By:

Mester, Jessica L.;
Tilot, Amanda K.;
Rybicki, Lisa A.;
Frazier, Thomas W.;
Eng, Charis

Publication type:

Article

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 776, doi. 10.1038/ejhg.2011.23

By:

Suominen, Tiina;
Bachinski, Linda L.;
Auvinen, Satu;
Hackman, Peter;
Baggerly, Keith A.,9;
Angelini, Corrado;
Peltonen, Leena;
Krahe, Ralf;
Udd, Bjarne

Publication type:

Article

Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 796, doi. 10.1038/ejhg.2011.19

By:

Johansson, Åsa;
Curran, Joanne E.;
Johnson, Matthew P;
Freed, Katy A.;
Fenstad, Mona H.;
Bjørge, Line;
Eide, Irina P.;
Carless, Melanie A.;
Rainwater, David L.;
Goring, Harald H. H.;
Austgulen, Rigmor;
Moses, Eric K.;
Blangero, John

Publication type:

Article

Children, biobanks and the scope of parental consent.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 735, doi. 10.1038/ejhg.2011.29

By:

Hens, Kristien;
Cassiman, Jean-Jacques;
Nys, Herman;
Dierickx, Kris

Publication type:

Article

Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.7

By:

Aretz, Stefan;
Vasen, Hans F. A.;
Olschwang, Sylviane

Publication type:

Article

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 789, doi. 10.1038/ejhg.2011.38

By:

Dunlop, Elaine A.;
Dodd, Kayleigh M.;
Land, Stephen C.;
Davies, Peter A.;
Martins, Nicole;
Stuart, Helen;
McKee, Shane;
Kingswood, Chris;
Saggar, Anand;
Corderio, Isabel;
Medeira, Ana Maria Duarte;
Kingston, Helen;
Sampson, Julian R.;
Davies, David Mark;
Tee, Andrew R.

Publication type:

Article

Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 748, doi. 10.1038/ejhg.2011.36

By:

Mądry, Edyta;
Fidler, Ewa;
Sobczyńska-Tomaszewska, Agnieszka;
Lisowska, Aleksandra;
Krzyżanowska, Patrycja;
Pogorzelski, Andrzej;
Minarowski, Łukasz;
Oralewska, Beata;
Mojs, Ewa;
Sapiejka, Ewa;
Marciniak, Ryszard;
Sands, Dorota;
Korzon-Burakowska, Anna;
Kwiecień, Jarosław;
Walkowiak, Jarosław

Publication type:

Article

Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 740, doi. 10.1038/ejhg.2011.34

By:

Hayeems, Robin Zoe;
Miller, Fiona Alice;
Li, Li;
Bytautas, Jessica Peace

Publication type:

Article

Clinical utility gene card for: Meckel syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2010.255

By:

Salonen, R;
Kestilä, M;
Bergmann, C

Publication type:

Article

Does the new HapMap throw the baby out with the bath water?

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 733, doi. 10.1038/ejhg.2010.228

By:

Santos, Pablo Sandro Carvalho;
Höhne, Johannes;
Poerner, Fabiana;
da Graça Bicalho, Maria;
Uchanska-Ziegler, Barbara;
Ziegler, Andreas

Publication type:

Article

The GENCODE exome: sequencing the complete human exome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 827, doi. 10.1038/ejhg.2011.28

By:

Coffey, Alison J.;
K.okocinski, Felix;
Calafato, Maria S.;
Scott, Carol E.;
Palta, Priit;
Drury, Eleanor;
Joyce, Christopher J;
LeProust, Emily M.;
Harrow, Jen;
Hunt, Sarah;
Lehesjoki, Anna-Elina;
Turner, Daniel J.;
Hubbard, Tim J.;
Palotie, Aarno

Publication type:

Article

Clinical utility gene card for: α-Mannosidosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 1, doi. 10.1038/ejhg.2011.5

By:

Nilssen, Øivind;
Stensland, Hilde Monica Frostad Riise;
Malm, Dag

Publication type:

Article

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 753, doi. 10.1038/ejhg.2011.11

By:

Stark, Zornitza;
Storen, Rebecca;
Bennetts, Bruce;
Savarirayan, Ravi;
Jamieson, Robyn V.

Publication type:

Article

Genetic architecture of circulating lipid levels.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 813, doi. 10.1038/ejhg.2011.21

By:

Demirkan, Ayşe;
Amin, Najaf;
Isaacs, Aaron;
Jarvelin, Marjo-Riitta;
Whitfield, John B.;
Wichmann, Heinz-Erich;
Kyvik, Kirsten Ohm;
Rudan, Igor;
Gieger, Christian;
Hicks, Andrew A.;
Johansson, Åsa;
Hottenga, Jouke-Jan;
Smith, Johannes J;
Wild, Sarah H.;
Pedersen, Nancy L.;
Willemsen, Gonneke;
Mangino, Massimo;
Hayward, Caroline;
Uitterlinden, André G;
Hofman, Albert

Publication type:

Article

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Published in:

2011

By:

Hurst, Jane A.;
Jenkins, Dagan;
Vasudevan, Pradeep C.;
Kirchhoff, Maria;
Skovby, Flemming;
Rieubland, Claudine;
Gallati, Sabina;
Rittinger, Olaf;
Kroisel, Peter M.;
Johnson, David;
Biesecker, Leslie G.;
Wilkie, Andrew OM

Publication type:

Case Study

Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 801, doi. 10.1038/ejhg.2011.35

By:

Jiang, Renfang;
Dong, Jianping;
Joo, Jungnam;
Geller, Nancy L;
Zheng, Gang

Publication type:

Article