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
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
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