Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 18

Results: 12

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2209, doi. 10.1093/hmg/ddm172

By:

Suriano, Gianpaolo;
Azevedo, Luisa;
Novais, Marta;
Boscolo, Barbara;
Seruca, Raquel;
Amorim, Antonio;
Ghibaudi, Elena Maria

Publication type:

Article

Investigation of NOD1/CARD4 variation in inflammatory bowel disease using a haplotype-tagging strategy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2175, doi. 10.1093/hmg/ddm169

By:

Van Limbergen, Johan;
Nimmo, Elaine R.;
Russell, Richard K.;
Drummond, Hazel E.;
Smith, Linda;
Anderson, Niall H.;
Davies, Gail;
Arnott, Ian D.;
Wilson, David C.;
Satsangi, Jack

Publication type:

Article

Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and ...

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2215, doi. 10.1093/hmg/ddm173

By:

Davidsson, Josef;
Andersson, Anna;
Paulsson, Kajsa;
Heidenblad, Markus;
Isaksson, Margareth;
Borg, Åke;
Heldrup, Jesper;
Behrendtz, Mikael;
Panagopoulos, Ioannis;
Fioretos, Thoas;
Johansson, Bertil

Publication type:

Article

An SNP in the 5′-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2226, doi. 10.1093/hmg/ddm174

By:

Southam, Lorraine;
Rodriguez-Lopez, Julio;
Wilkins, James M.;
Pombo-Suarez, Manuel;
Snelling, Sarah;
Gomez-Reino, Juan J.;
Chapman, Kay;
Gonzalez, Antonio;
Loughlin, John

Publication type:

Article

A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2149, doi. 10.1093/hmg/ddm165

By:

Simmonds, Matthew J.;
Howson, Joanna M.M.;
Heward, Joanne M.;
Carr-Smith, Jackie;
Franklyn, Jayne A.;
Todd, John A.;
Gough, Stephen C.L.

Publication type:

Article

Association of attentional network function with exon 5 variations of the CHRNA4 gene.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2165, doi. 10.1093/hmg/ddm168

By:

Winterer, Georg;
Musso, Francesco;
Konrad, Andreas;
Vucurevic, Goran;
Stoeter, Peter;
Sander, Thomas;
Gallinat, Jürgen

Publication type:

Article

Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2187, doi. 10.1093/hmg/ddm170

By:

Valenza, Marta;
Carroll, Jeffrey B.;
Leoni, Valerio;
Bertram, Lisa N.;
Björkhem, Ingeman;
Singaraja, Roshni R.;
Di Donato, Stefano;
Lutjohann, Dieter;
Hayden, Michael R.;
Cattaneo, Elena

Publication type:

Article

Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2154, doi. 10.1093/hmg/ddm166

By:

Ambrose, Mark;
Goldstine, Jimena V.;
Gatti, Richard A.

Publication type:

Article

Regulatory region single nucleotide polymorphisms of the apolipoprotein E gene and the rate of cognitive decline in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2199, doi. 10.1093/hmg/ddm171

By:

Belbin, Olivia;
Dunn, Janette L.;
Ling, Yan;
Morgan, Linda;
Chappell, Sally;
Beaumont, Helen;
Warden, Donald;
Smith, David A.;
Kalsheker, Noor;
Morgan, Kevin

Publication type:

Article

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2249, doi. 10.1093/hmg/ddm177

By:

Beaumont, Kimberley A.;
Shekar, Sri L.;
Newton, Richard A.;
James, Michael R.;
Stow, Jennifer L.;
Duffy, David L.;
Sturm, Richard A.

Publication type:

Article

Trans-generational epistasis between Dnd1Ter and other modifier genes controls susceptibility to testicular germ cell tumors.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2233, doi. 10.1093/hmg/ddm175

By:

Lam, Man-Yee J.;
Heaney, Jason D.;
Youngren, Kirsten K.;
Kawasoe, Jean H.;
Nadeau, Joseph H.

Publication type:

Article

CRISPLD2: a novel NSCLP candidate gene.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 18, p. 2241, doi. 10.1093/hmg/ddm176

By:

Chiquet, Brett T.;
Lidral, Andrew C.;
Stal, Samuel;
Mulliken, John B.;
Moreno, Lina M.;
Arco-Burgos, Mauricio;
Valencia-Ramirez, Consuelo;
Blanton, Susan H.;
Hecht, Jacqueline T.

Publication type:

Article