Works matching IS 03406717 AND DT 2011 AND VI 130 AND IP 4

Results: 11

Cassidy and Allanson: Management of Genetic Syndromes, 3rd edition.

Published in:

2011

By:

Turnpenny, Peter

Publication type:

Book Review

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 495, doi. 10.1007/s00439-011-0968-y

By:

Reis, Linda;
Tyler, Rebecca;
Schilter, Kala;
Abdul-Rahman, Omar;
Innis, Jeffrey;
Kozel, Beth;
Schneider, Adele;
Bardakjian, Tanya;
Lose, Edward;
Martin, Donna;
Broeckel, Ulrich;
Semina, Elena

Publication type:

Article

Technology-specific error signatures in the 1000 Genomes Project data.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 505, doi. 10.1007/s00439-011-0971-3

By:

Nothnagel, Michael;
Herrmann, Alexander;
Wolf, Andreas;
Schreiber, Stefan;
Platzer, Matthias;
Siebert, Reiner;
Krawczak, Michael;
Hampe, Jochen

Publication type:

Article

The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 483, doi. 10.1007/s00439-011-0966-0

By:

Jensen, Tine;
Liebert, Anke;
Lewinsky, Rikke;
Swallow, Dallas;
Olsen, Jørgen;
Troelsen, Jesper

Publication type:

Article

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 517, doi. 10.1007/s00439-011-0970-4

By:

Burnside, Rachel;
Pasion, Romela;
Mikhail, Fady;
Carroll, Andrew;
Robin, Nathaniel;
Youngs, Erin;
Gadi, Inder;
Keitges, Elizabeth;
Jaswaney, Vikram;
Papenhausen, Peter;
Potluri, Venkateswara;
Risheg, Hiba;
Rush, Brooke;
Smith, Janice;
Schwartz, Stuart;
Tepperberg, James;
Butler, Merlin

Publication type:

Article

Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 529, doi. 10.1007/s00439-011-0973-1

By:

Sehrawat, Badan;
Sridharan, Malinee;
Ghosh, Sunita;
Robson, Paula;
Cass, Carol;
Mackey, John;
Greiner, Russell;
Damaraju, Sambasivarao

Publication type:

Article

Identification of QTL genes for BMD variation using both linkage and gene-based association approaches.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 539, doi. 10.1007/s00439-011-0972-2

By:

Li, Gloria;
Ching-Lung Cheung;
Su-Mei Xiao;
Kam-Shing Lau;
Yi Gao;
Bow, Cora;
Qing-Yang Huang;
Pak-Chung Sham;
Kung, Annie

Publication type:

Article

The role of polymorphisms in Toll-like receptors and their associated intracellular signaling genes in measles vaccine immunity.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 547, doi. 10.1007/s00439-011-0977-x

By:

Ovsyannikova, Inna;
Haralambieva, Iana;
Vierkant, Robert;
Pankratz, V.;
Jacobson, Robert;
Poland, Gregory

Publication type:

Article

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 563, doi. 10.1007/s00439-011-0975-z

By:

Gauthier, Julie;
Siddiqui, Tabrez;
Huashan, Peng;
Yokomaku, Daisaku;
Hamdan, Fadi;
Champagne, Nathalie;
Lapointe, Mathieu;
Spiegelman, Dan;
Noreau, Anne;
Lafrenière, Ronald;
Fathalli, Ferid;
Joober, Ridha;
Krebs, Marie-Odile;
DeLisi, Lynn;
Mottron, Laurent;
Fombonne, Éric;
Michaud, Jacques;
Drapeau, Pierre;
Carbonetto, Salvatore;
Craig, Ann

Publication type:

Article

ATXN- 2 CAG repeat expansions are interrupted in ALS patients.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 575, doi. 10.1007/s00439-011-1000-2

By:

Corrado, Lucia;
Mazzini, Letizia;
Oggioni, Gaia;
Luciano, Bernadetta;
Godi, Michela;
Brusco, Alfredo;
D'Alfonso, Sandra

Publication type:

Article

Integrative computational biology for cancer research.

Published in:

Human Genetics, 2011, v. 130, n. 4, p. 465, doi. 10.1007/s00439-011-0983-z

By:

Fortney, Kristen;
Jurisica, Igor

Publication type:

Article