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
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
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
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