Works matching IS 03406717 AND DT 2012 AND VI 131 AND IP 2

Results: 14

Mitochondrial DNA and inflammatory diseases.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 161, doi. 10.1007/s00439-011-1057-y

By:

Escames, Germaine;
López, Luis;
García, José;
García-Corzo, Laura;
Ortiz, Francisco;
Acuña-Castroviejo, Darío

Publication type:

Article

A novel transcript of cyclin-dependent kinase-like 5 ( CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 187, doi. 10.1007/s00439-011-1058-x

By:

Williamson, Sarah;
Giudici, Laura;
Kilstrup-Nielsen, Charlotte;
Gold, Wendy;
Pelka, Gregory;
Tam, Patrick;
Grimm, Andrew;
Prodi, Dionigio;
Landsberger, Nicoletta;
Christodoulou, John

Publication type:

Article

Preimplantation genetic diagnosis: State of the ART 2011.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 175, doi. 10.1007/s00439-011-1056-z

By:

Harper, Joyce;
SenGupta, Sioban

Publication type:

Article

Mitochondrial Haplogroup X is associated with successful aging in the Amish.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 201, doi. 10.1007/s00439-011-1060-3

By:

Courtenay, Monique;
Gilbert, John;
Jiang, Lan;
Cummings, Anna;
Gallins, Paul;
Caywood, Laura;
Reinhart-Mercer, Lori;
Fuzzell, Denise;
Knebusch, Claire;
Laux, Renee;
McCauley, Jacob;
Jackson, Charles;
Pericak-Vance, Margaret;
Haines, Jonathan;
Scott, William

Publication type:

Article

Functional haplotypes of Fc gamma (Fcγ) receptor (FcγRIIA and FcγRIIIB) predict risk to repeated episodes of severe malarial anemia and mortality in Kenyan children.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 289, doi. 10.1007/s00439-011-1076-8

By:

Ouma, Collins;
Davenport, Gregory;
Garcia, Steven;
Kempaiah, Prakasha;
Chaudhary, Ateefa;
Were, Tom;
Anyona, Samuel;
Raballah, Evans;
Konah, Stephen;
Hittner, James;
Vulule, John;
Ong'echa, John;
Perkins, Douglas

Publication type:

Article

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 209, doi. 10.1007/s00439-011-1062-1

By:

Borck, Guntram;
Kakar, Naseebullah;
Hoch, Jochen;
Friedrich, Katrin;
Freudenberg, Jan;
Nürnberg, Gudrun;
Yilmaz, Rüstem;
Daud, Shakeela;
Baloch, Dost;
Nürnberg, Peter;
Oldenburg, Johannes;
Ahmad, Jamil;
Kubisch, Christian

Publication type:

Article

The cell adhesion gene PVRL3 is associated with congenital ocular defects.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 235, doi. 10.1007/s00439-011-1064-z

By:

Lachke, Salil;
Higgins, Anne;
Inagaki, Maiko;
Saadi, Irfan;
Xi, Qiongchao;
Long, Michelle;
Quade, Bradley;
Talkowski, Michael;
Gusella, James;
Fujimoto, Atsuko;
Robinson, Michael;
Yang, Ying;
Duong, Quynh;
Shapira, Irit;
Motro, Benny;
Miyoshi, Jun;
Takai, Yoshimi;
Morton, Cynthia;
Maas, Richard

Publication type:

Article

The impact of Converso Jews on the genomes of modern Latin Americans.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 251, doi. 10.1007/s00439-011-1072-z

By:

Velez, C.;
Palamara, P.;
Guevara-Aguirre, J.;
Hao, L.;
Karafet, T.;
Guevara-Aguirre, M.;
Pearlman, A.;
Oddoux, C.;
Hammer, M.;
Burns, E.;
Pe'er, I.;
Atzmon, G.;
Ostrer, H.

Publication type:

Article

Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 265, doi. 10.1007/s00439-011-1075-9

By:

Pereira-Castro, Isabel;
Quental, Rita;
Costa, Luís;
Amorim, António;
Azevedo, Luisa

Publication type:

Article

Analysis of family- and population-based samples in cohort genome-wide association studies.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 275, doi. 10.1007/s00439-011-1071-0

By:

Manichaikul, Ani;
Chen, Wei-Min;
Williams, Kayleen;
Wong, Quenna;
Sale, Michèle;
Pankow, James;
Tsai, Michael;
Rotter, Jerome;
Rich, Stephen;
Mychaleckyj, Josyf

Publication type:

Article

Meta-analysis of new genome-wide association studies of colorectal cancer risk.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 217, doi. 10.1007/s00439-011-1055-0

By:

Peters, Ulrike;
Hutter, Carolyn;
Hsu, Li;
Schumacher, Fredrick;
Conti, David;
Carlson, Christopher;
Edlund, Christopher;
Haile, Robert;
Gallinger, Steven;
Zanke, Brent;
Lemire, Mathieu;
Rangrej, Jagadish;
Vijayaraghavan, Raakhee;
Chan, Andrew;
Hazra, Aditi;
Hunter, David;
Ma, Jing;
Fuchs, Charles;
Giovannucci, Edward;
Kraft, Peter

Publication type:

Article

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 301, doi. 10.1007/s00439-011-1078-6

By:

Pineda-Alvarez, Daniel;
Roessler, Erich;
Hu, Ping;
Srivastava, Kshitij;
Solomon, Benjamin;
Siple, C.;
Fan, Chen-Ming;
Muenke, Maximilian

Publication type:

Article

Michelle Webb (ed): Cancer Susceptibility: Methods and Protocols.

Published in:

2012

By:

Alsaegh, Abeer;
Eccles, Diana

Publication type:

Book Review

Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q.

Published in:

Human Genetics, 2012, v. 131, n. 2, p. 311, doi. 10.1007/s00439-011-1134-2

By:

Raza, Muhammad;
Amjad, Rana;
Riazuddin, Sheikh;
Drayna, Dennis

Publication type:

Article