Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 1

Results: 14

A Changing of the Guard at Human Genetics.

Published in:: Human Genetics, 2015, v. 134, n. 1, p. 1, doi. 10.1007/s00439-014-1510-9
Publication type:: Article

Mitochondrial dysfunction in schizophrenia: an evolutionary perspective.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 13, doi. 10.1007/s00439-014-1491-8

By:

Gonçalves, Vanessa;
Andreazza, Ana;
Kennedy, James

Publication type:

Article

Using drug response data to identify molecular effectors, and molecular 'omic' data to identify candidate drugs in cancer.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 3, doi. 10.1007/s00439-014-1482-9

By:

Reinhold, William;
Varma, Sudhir;
Rajapakse, Vinodh;
Luna, Augustin;
Sousa, Fabricio;
Kohn, Kurt;
Pommier, Yves

Publication type:

Article

G-quadruplex formation enhances splicing efficiency of PAX9 intron 1.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 37, doi. 10.1007/s00439-014-1485-6

By:

Ribeiro, Mariana;
Teixeira, Gleidson;
Martins, Luciane;
Marques, Marcelo;
Souza, Ana;
Line, Sergio

Publication type:

Article

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 45, doi. 10.1007/s00439-014-1487-4

By:

Kakar, Naseebullah;
Ahmad, Jamil;
Morris-Rosendahl, Deborah;
Altmüller, Janine;
Friedrich, Katrin;
Barbi, Gotthold;
Nürnberg, Peter;
Kubisch, Christian;
Dobyns, William;
Borck, Guntram

Publication type:

Article

Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 53, doi. 10.1007/s00439-014-1488-3

By:

Guay-Bélanger, Sabrina;
Picard, Sylvain;
Gagnon, Edith;
Morissette, Jean;
Siris, Ethel;
Orcel, Philippe;
Brown, Jacques;
Michou, Laëtitia

Publication type:

Article

DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 67, doi. 10.1007/s00439-014-1489-2

By:

Davis, Jonathon;
Searles, Veronica;
Anderson, Nathan;
Keeney, Jonathon;
Raznahan, Armin;
Horwood, L.;
Fergusson, David;
Kennedy, Martin;
Giedd, Jay;
Sikela, James

Publication type:

Article

Refinement of schizophrenia GWAS loci using methylome-wide association data.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 77, doi. 10.1007/s00439-014-1494-5

By:

Kumar, Gaurav;
Clark, Shaunna;
McClay, Joseph;
Shabalin, Andrey;
Adkins, Daniel;
Xie, Linying;
Chan, Robin;
Nerella, Srilaxmi;
Kim, Yunjung;
Sullivan, Patrick;
Hultman, Christina;
Magnusson, Patrik;
Aberg, Karolina;
den Oord, Edwin

Publication type:

Article

The role of linkage disequilibrium in case-only studies of gene-environment interactions.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 89, doi. 10.1007/s00439-014-1497-2

By:

Yadav, Pankaj;
Freitag-Wolf, Sandra;
Lieb, Wolfgang;
Krawczak, Michael

Publication type:

Article

De novo mutations in beta- catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 97, doi. 10.1007/s00439-014-1498-1

By:

Kuechler, Alma;
Willemsen, Marjolein;
Albrecht, Beate;
Bacino, Carlos;
Bartholomew, Dennis;
Bokhoven, Hans;
den Boogaard, Marie;
Bramswig, Nuria;
Büttner, Christian;
Cremer, Kirsten;
Czeschik, Johanna;
Engels, Hartmut;
Gassen, Koen;
Graf, Elisabeth;
Haelst, Mieke;
He, Weimin;
Hogue, Jacob;
Kempers, Marlies;
Koolen, David;
Monroe, Glen

Publication type:

Article

Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 111, doi. 10.1007/s00439-014-1499-0

By:

Sikora, Jacquelyn;
Logue, Mark;
Chan, Gloria;
Spencer, Brian;
Prokaeva, Tatiana;
Baldwin, Clinton;
Seldin, David;
Connors, Lawreen

Publication type:

Article

A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs.

Published in:

2015

By:

Drögemüller, Michaela;
Jagannathan, Vidhya;
Dolf, Gaudenz;
Butenhoff, Karin;
Kottmann-Berger, Suzanne;
Wess, Gerhard;
Leeb, Tosso

Publication type:

Letter

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 123, doi. 10.1007/s00439-014-1508-3

By:

Romani, Marta;
Mancini, Francesca;
Micalizzi, Alessia;
Poretti, Andrea;
Miccinilli, Elide;
Accorsi, Patrizia;
Avola, Emanuela;
Bertini, Enrico;
Borgatti, Renato;
Romaniello, Romina;
Ceylaner, Serdar;
Coppola, Giangennaro;
D'Arrigo, Stefano;
Giordano, Lucio;
Janecke, Andreas;
Lituania, Mario;
Ludwig, Kathrin;
Martorell, Loreto;
Mazza, Tommaso;
Odent, Sylvie

Publication type:

Article

Bayesian variable selection for hierarchical gene-environment and gene-gene interactions.

Published in:

Human Genetics, 2015, v. 134, n. 1, p. 23, doi. 10.1007/s00439-014-1478-5

By:

Liu, Changlu;
Ma, Jianzhong;
Amos, Christopher

Publication type:

Article