Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 10

Results: 15

Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1201, doi. 10.1038/ejhg.2014.2

By:

Aimé, Carla;
Verdu, Paul;
Ségurel, Laure;
Martinez-Cruz, Begoña;
Hegay, Tatyana;
Heyer, Evelyne;
Austerlitz, Frédéric

Publication type:

Article

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1172, doi. 10.1038/ejhg.2014.12

By:

Tang, Manshu;
Siddiqi, Anwer;
Witt, Benjamin;
Yuzyuk, Tatiana;
Johnson, Britt;
Fraser, Nisa;
Chen, Wyman;
Rascon, Rafael;
Yin, Xue;
Goli, Harish;
Bodamer, Olaf A;
Lai, Kent

Publication type:

Article

Trends in genetic patent applications: the commercialization of academic intellectual property.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1155, doi. 10.1038/ejhg.2013.305

By:

Kers, Jannigje G;
Van Burg, Elco;
Stoop, Tom;
Cornel, Martina C

Publication type:

Article

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1180, doi. 10.1038/ejhg.2014.5

By:

Khan, Tahir Naeem;
Klar, Joakim;
Tariq, Muhammad;
Anjum Baig, Shehla;
Malik, Naveed Altaf;
Yousaf, Raja;
Baig, Shahid Mahmood;
Dahl, Niklas

Publication type:

Article

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1165, doi. 10.1038/ejhg.2014.4

By:

Ceroni, Fabiola;
Simpson, Nuala H;
Francks, Clyde;
Baird, Gillian;
Conti-Ramsden, Gina;
Clark, Ann;
Bolton, Patrick F;
Hennessy, Elizabeth R;
Donnelly, Peter;
Bentley, David R;
Martin, Hilary;
Parr, Jeremy;
Pagnamenta, Alistair T;
Maestrini, Elena;
Bacchelli, Elena;
Fisher, Simon E;
Newbury, Dianne F

Publication type:

Article

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1229, doi. 10.1038/ejhg.2014.8

By:

Joshi, Mugdha;
Eagan, Jacqueline;
Desai, Nirav K;
Newton, Stephanie A;
Towne, Meghan C;
Marinakis, Nicholas S;
Esteves, Kristyn M;
De Ferranti, Sarah;
Bennett, Michael J;
McIntyre, Adam;
Beggs, Alan H;
Berry, Gerard T;
Agrawal, Pankaj B

Publication type:

Article

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1236, doi. 10.1038/ejhg.2014.9

By:

Nicolas, Gaël;
Jacquin, Agnès;
Thauvin-Robinet, Christel;
Rovelet-Lecrux, Anne;
Rouaud, Olivier;
Pottier, Cyril;
Aubriot-Lorton, Marie-Hélène;
Rousseau, Stéphane;
Wallon, David;
Duvillard, Christian;
Béjot, Yannick;
Frébourg, Thierry;
Giroud, Maurice;
Campion, Dominique;
Hannequin, Didier

Publication type:

Article

Controversial association results for INSIG2 on body mass index may be explained by interactions with age and with MC4R.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1217, doi. 10.1038/ejhg.2014.3

By:

Malzahn, Dörthe;
Müller-Nurasyid, Martina;
Heid, Iris M;
Wichmann, H-Erich;
Bickeböller, Heike

Publication type:

Article

Genetic ancestry is associated with colorectal adenomas and adenocarcinomas in Latino populations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1208, doi. 10.1038/ejhg.2013.310

By:

Hernandez-Suarez, Gustavo;
Sanabria, Maria Carolina;
Serrano, Marta;
Herran, Oscar F;
Perez, Jesus;
Plata, Jose L;
Zabaleta, Jovanny;
Tenesa, Albert

Publication type:

Article

Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1239, doi. 10.1038/ejhg.2013.308

By:

Radmanesh, Farid;
Devan, William J;
Anderson, Christopher D;
Rosand, Jonathan;
Falcone, Guido J

Publication type:

Article

Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1160, doi. 10.1038/ejhg.2014.10

By:

Hofmann, Christine;
Girschick, Hermann;
Mornet, Etienne;
Schneider, Doris;
Jakob, Franz;
Mentrup, Birgit

Publication type:

Article

Genome-wide UPD screening in patients with intellectual disability.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1233, doi. 10.1038/ejhg.2014.63

By:

Schroeder, Christopher;
Ekici, Arif Bülent;
Moog, Ute;
Grasshoff, Ute;
Mau-Holzmann, Ulrike;
Sturm, Marc;
Vosseler, Vanessa;
Poths, Sven;
Rappold, Gudrun;
Riess, Angelika;
Riess, Olaf;
Dufke, Andreas;
Bonin, Michael

Publication type:

Article

Fragile X syndrome due to a missense mutation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1185, doi. 10.1038/ejhg.2013.311

By:

Myrick, Leila K;
Nakamoto-Kinoshita, Mika;
Lindor, Noralane M;
Kirmani, Salman;
Cheng, Xiaodong;
Warren, Stephen T

Publication type:

Article

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1225, doi. 10.1038/ejhg.2014.11

By:

Turbitt, Erin;
Wiest, Michelle M;
Halliday, Jane L;
Amor, David J;
Metcalfe, Sylvia A

Publication type:

Article

Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1190, doi. 10.1038/ejhg.2014.1

By:

Huckins, Laura M;
Boraska, Vesna;
Franklin, Christopher S;
Floyd, James A B;
Southam, Lorraine;
Sullivan, Patrick F;
Bulik, Cynthia M;
Collier, David A;
Tyler-Smith, Chris;
Zeggini, Eleftheria;
Tachmazidou, Ioanna

Publication type:

Article