Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 8

Results: 10

Conditions for the validity of SNP-based heritability estimation.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 1011, doi. 10.1007/s00439-014-1441-5

By:

Lee, James;
Chow, Carson

Publication type:

Article

Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 985, doi. 10.1007/s00439-014-1439-z

By:

Ellis, Jaclyn;
Lange, Ethan;
Li, Jin;
Dupuis, Josee;
Baumert, Jens;
Walston, Jeremy;
Keating, Brendan;
Durda, Peter;
Fox, Ervin;
Palmer, Cameron;
Meng, Yan;
Young, Taylor;
Farlow, Deborah;
Schnabel, Renate;
Marzi, Carola;
Larkin, Emma;
Martin, Lisa;
Bis, Joshua;
Auer, Paul;
Ramachandran, Vasan

Publication type:

Article

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 997, doi. 10.1007/s00439-014-1444-2

By:

Schulz, Yvonne;
Wehner, Peter;
Opitz, Lennart;
Salinas-Riester, Gabriela;
Bongers, Ernie;
Ravenswaaij-Arts, Conny;
Wincent, Josephine;
Schoumans, Jacqueline;
Kohlhase, Jürgen;
Borchers, Annette;
Pauli, Silke

Publication type:

Article

Application of quantile regression to recent genetic and -omic studies.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 951, doi. 10.1007/s00439-014-1440-6

By:

Briollais, Laurent;
Durrieu, Gilles

Publication type:

Article

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 975, doi. 10.1007/s00439-014-1438-0

By:

Mir, Asif;
Sritharan, Kumudesh;
Mittal, Kirti;
Vasli, Nasim;
Araujo, Carolina;
Jamil, Talal;
Rafiq, Muhammad;
Anwar, Zubair;
Mikhailov, Anna;
Rauf, Sobiah;
Mahmood, Huda;
Shakoor, Abdul;
Ali, Sabir;
So, Joyce;
Naeem, Farooq;
Ayub, Muhammad;
Vincent, John

Publication type:

Article

CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 1059, doi. 10.1007/s00439-014-1447-z

By:

Reynard, Louise;
Bui, Catherine;
Syddall, Catherine;
Loughlin, John

Publication type:

Article

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 1023, doi. 10.1007/s00439-014-1443-3

By:

Mirzaa, Ghayda;
Vitre, Benjamin;
Carpenter, Gillian;
Abramowicz, Iga;
Gleeson, Joseph;
Paciorkowski, Alex;
Cleveland, Don;
Dobyns, William;
O'Driscoll, Mark

Publication type:

Article

Homozygous truncating PTPRF mutation causes athelia.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 1041, doi. 10.1007/s00439-014-1445-1

By:

Borck, Guntram;
Vries, Liat;
Wu, Hsin-Jung;
Smirin-Yosef, Pola;
Nürnberg, Gudrun;
Lagovsky, Irina;
Ishida, Luis;
Thierry, Patrick;
Wieczorek, Dagmar;
Nürnberg, Peter;
Foley, John;
Kubisch, Christian;
Basel-Vanagaite, Lina

Publication type:

Article

Genome-wide association tests of inversions with application to psoriasis.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 967, doi. 10.1007/s00439-014-1437-1

By:

Ma, Jianzhong;
Xiong, Momiao;
You, Ming;
Lozano, Guillermina;
Amos, Christopher

Publication type:

Article

Metabolic heritability at birth: implications for chronic disease research.

Published in:

Human Genetics, 2014, v. 133, n. 8, p. 1049, doi. 10.1007/s00439-014-1450-4

By:

Ryckman, Kelli;
Smith, Caitlin;
Jelliffe-Pawlowski, Laura;
Momany, Allison;
Berberich, Stanton;
Murray, Jeffrey

Publication type:

Article