Works matching IS 03406717 AND DT 2012 AND VI 131 AND IP 4

Results: 9

Modeling human neurodegenerative diseases in transgenic systems.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 535, doi. 10.1007/s00439-011-1119-1

By:

Gama Sosa, Miguel;
Gasperi, Rita;
Elder, Gregory

Publication type:

Article

Genetic determinants of Tibetan high-altitude adaptation.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 527, doi. 10.1007/s00439-011-1109-3

By:

Simonson, Tatum;
McClain, Donald;
Jorde, Lynn;
Prchal, Josef

Publication type:

Article

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 639, doi. 10.1007/s00439-011-1103-9

By:

Crosslin, David;
McDavid, Andrew;
Weston, Noah;
Nelson, Sarah;
Zheng, Xiuwen;
Hart, Eugene;
Andrade, Mariza;
Kullo, Iftikhar;
McCarty, Catherine;
Doheny, Kimberly;
Pugh, Elizabeth;
Kho, Abel;
Hayes, M.;
Pretel, Stephanie;
Saip, Alexander;
Ritchie, Marylyn;
Crawford, Dana;
Crane, Paul;
Newton, Katherine;
Li, Rongling

Publication type:

Article

Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 625, doi. 10.1007/s00439-011-1101-y

By:

Laffita-Mesa, José;
Bauer, Peter;
Kourí, Vivian;
Peña Serrano, Leodani;
Roskams, Jane;
Almaguer Gotay, Dennis;
Montes Brown, Julio;
Martínez Rodríguez, Pedro;
González-Zaldívar, Yanetza;
Almaguer Mederos, Luís;
Cuello-Almarales, Dany;
Aguiar Santiago, Jorge

Publication type:

Article

Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 615, doi. 10.1007/s00439-011-1107-5

By:

Zhang, Mingfeng;
Liang, Liming;
Morar, Nilesh;
Dixon, Anna;
Lathrop, G.;
Ding, Jun;
Moffatt, Miriam;
Cookson, William;
Kraft, Peter;
Qureshi, Abrar;
Han, Jiali

Publication type:

Article

Recombination networks as genetic markers in a human variation study of the Old World.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 601, doi. 10.1007/s00439-011-1104-8

By:

Javed, Asif;
Melé, Marta;
Pybus, Marc;
Zalloua, Pierre;
Haber, Marc;
Comas, David;
Netea, Mihai;
Balanovsky, Oleg;
Balanovska, Elena;
Jin, Li;
Yang, Yajun;
ArunKumar, GaneshPrasad;
Pitchappan, Ramasamy;
Bertranpetit, Jaume;
Calafell, Francesc;
Parida, Laxmi

Publication type:

Article

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 591, doi. 10.1007/s00439-011-1105-7

By:

Sakai, Haruya;
Suzuki, Shinichi;
Mizuguchi, Takeshi;
Imoto, Kiyotaka;
Yamashita, Yuki;
Doi, Hiroshi;
Kikuchi, Masakazu;
Tsurusaki, Yoshinori;
Saitsu, Hirotomo;
Miyake, Noriko;
Masuda, Munetaka;
Matsumoto, Naomichi

Publication type:

Article

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 581, doi. 10.1007/s00439-011-1106-6

By:

Chonchaiya, Weerasak;
Au, Jacky;
Schneider, Andrea;
Hessl, David;
Harris, Susan;
Laird, Meredith;
Mu, Yi;
Tassone, Flora;
Nguyen, Danh;
Hagerman, Randi

Publication type:

Article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Published in:

Human Genetics, 2012, v. 131, n. 4, p. 565, doi. 10.1007/s00439-011-1094-6

By:

Casey, Jillian;
Magalhaes, Tiago;
Conroy, Judith;
Regan, Regina;
Shah, Naisha;
Anney, Richard;
Shields, Denis;
Abrahams, Brett;
Almeida, Joana;
Bacchelli, Elena;
Bailey, Anthony;
Baird, Gillian;
Battaglia, Agatino;
Berney, Tom;
Bolshakova, Nadia;
Bolton, Patrick;
Bourgeron, Thomas;
Brennan, Sean;
Cali, Phil;
Correia, Catarina

Publication type:

Article