Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 12

Results: 15

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1362, doi. 10.1038/ejhg.2014.40

By:

Steffensen, Ane Y;
Dandanell, Mette;
Jønson, Lars;
Ejlertsen, Bent;
Gerdes, Anne-Marie;
Nielsen, Finn C;
Hansen, Thomas vO

Publication type:

Article

Human genetics of the Kula Ring: Y-chromosome and mitochondrial DNA variation in the Massim of Papua New Guinea.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1393, doi. 10.1038/ejhg.2014.38

By:

van Oven, Mannis;
Brauer, Silke;
Choi, Ying;
Ensing, Joe;
Schiefenhövel, Wulf;
Stoneking, Mark;
Kayser, Manfred

Publication type:

Article

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1369, doi. 10.1038/ejhg.2014.39

By:

Scholefield, Janine;
Watson, Lauren;
Smith, Danielle;
Greenberg, Jacquie;
Wood, Matthew JA

Publication type:

Article

Predictive testing for inherited prion disease: report of 22 years experience.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1351, doi. 10.1038/ejhg.2014.42

By:

Owen, Jane;
Beck, Jon;
Campbell, Tracy;
Adamson, Gary;
Gorham, Michele;
Thompson, Andrew;
Smithson, Sarah;
Rosser, Elizabeth;
Rudge, Peter;
Collinge, John;
Mead, Simon

Publication type:

Article

Brugada syndrome risk loci seem protective against atrial fibrillation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1357, doi. 10.1038/ejhg.2014.46

By:

Andreasen, Laura;
Nielsen, Jonas B;
Darkner, Stine;
Christophersen, Ingrid E;
Jabbari, Javad;
Refsgaard, Lena;
Thiis, Jens J;
Sajadieh, Ahmad;
Tveit, Arnljot;
Haunsø, Stig;
Svendsen, Jesper H;
Schmitt, Nicole;
Olesen, Morten S

Publication type:

Article

Do early paternal exposures to lifestyle factors such as smoking increase the risk of chronic diseases in the offspring?

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1341, doi. 10.1038/ejhg.2014.206

By:

Soubry, Adelheid;
Verbeke, Geert;
Hoyo, Cathrine

Publication type:

Article

Common variant rs10033900 near the complement factor I gene is associated with age-related macular degeneration risk in Han Chinese population.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1417, doi. 10.1038/ejhg.2014.37

By:

Qian, Dingguo;
Kan, Mengyuan;
Weng, Xiaoling;
Huang, Yugeng;
Zhou, Changbo;
Yu, Genlong;
Wang, Ting;
Zhou, Daizhan;
Zhang, Zhou;
Zhang, Di;
Tang, Wei;
Liu, Yun

Publication type:

Article

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1413, doi. 10.1038/ejhg.2014.57

By:

di Rocco, Federico;
Baujat, Geneviève;
Arnaud, Eric;
Rénier, Dominique;
Laplanche, Jean-Louis;
Daire, Valérie Cormier;
Collet, Corinne

Publication type:

Article

Unravelling the distinct strains of Tharu ancestry.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1404, doi. 10.1038/ejhg.2014.36

By:

Chaubey, Gyaneshwer;
Singh, Manvendra;
Crivellaro, Federica;
Tamang, Rakesh;
Nandan, Amrita;
Singh, Kamayani;
Sharma, Varun Kumar;
Pathak, Ajai Kumar;
Shah, Anish M;
Sharma, Vishwas;
Singh, Vipin Kumar;
Selvi Rani, Deepa;
Rai, Niraj;
Kushniarevich, Alena;
Ilumäe, Anne-Mai;
Karmin, Monika;
Phillip, Anand;
Verma, Abhilasha;
Prank, Erik;
Singh, Vijay Kumar

Publication type:

Article

Prepubertal start of father's smoking and increased body fat in his sons: further characterisation of paternal transgenerational responses.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1382, doi. 10.1038/ejhg.2014.31

By:

Northstone, Kate;
Golding, Jean;
Davey Smith, George;
Miller, Laura L;
Pembrey, Marcus

Publication type:

Article

Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1387, doi. 10.1038/ejhg.2014.41

By:

Gebremeskel, Eyoab I;
Ibrahim, Muntaser E

Publication type:

Article

Exploring Personal Genomics.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1420, doi. 10.1038/ejhg.2014.100

By:

Jennings, Barbara

Publication type:

Article

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1345, doi. 10.1038/ejhg.2014.32

By:

van Schendel, Rachèl V;
Kleinveld, Johanna H;
Dondorp, Wybo J;
Pajkrt, Eva;
Timmermans, Danielle R M;
Holtkamp, Kim C A;
Karsten, Margreet;
Vlietstra, Anne L;
Lachmeijer, Augusta M A;
Henneman, Lidewij

Publication type:

Article

Human active X-specific DNA methylation events showing stability across time and tissues.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1376, doi. 10.1038/ejhg.2014.34

By:

Joo, Jihoon Eric;
Novakovic, Boris;
Cruickshank, Mark;
Doyle, Lex W;
Craig, Jeffrey M;
Saffery, Richard

Publication type:

Article

Charles Buys (1942-2014).

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1343, doi. 10.1038/ejhg.2014.207

By:

Sijmons, Rolf H;
te Meerman, Gerard J;
Hofstra, Robert MW

Publication type:

Article