Works matching IS 03406717 AND DT 2007 AND VI 121 AND IP 2

Results: 16

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 269, doi. 10.1007/s00439-006-0311-1

By:

Isidor, B.;
Dagoneau, N.;
Huber, C.;
Genevieve, D.;
Bader-Meunier, B.;
Blanche, S.;
Picard, C.;
Vernejoul, M.;
Munnich, A.;
Merrer, M.;
Cormier-Daire, V.

Publication type:

Article

Genetic variation in the base excision repair pathway and bladder cancer risk.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 233, doi. 10.1007/s00439-006-0294-y

By:

Figueroa, Jonine;
Malats, Núria;
Real, Francisco;
Silverman, Debra;
Kogevinas, Manolis;
Chanock, Stephen;
Welch, Robert;
Dosemeci, Mustafa;
Tardón, Adonina;
Serra, Consol;
Carrato, Alfredo;
García-Closas, Reina;
Castaño-Vinyals, Gemma;
Rothman, Nathaniel;
García-Closas, Montserrat

Publication type:

Article

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 275, doi. 10.1007/s00439-006-0316-9

By:

Martin, Lisa;
Ramachandran, Vijaya;
Cripe, Linda;
Hinton, Robert;
Andelfinger, Gregor;
Tabangin, Meredith;
Shooner, Kerry;
Keddache, Mehdi;
Benson, D.

Publication type:

Article

Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 155, doi. 10.1007/s00439-006-0293-z

By:

Szeszko, Jeffrey;
Healy, Barry;
Stevens, Helen;
Balabanova, Yanina;
Drobniewski, Francis;
Todd, John;
Nejentsev, Sergey

Publication type:

Article

Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 161, doi. 10.1007/s00439-006-0288-9

By:

Lan, Qing;
Zheng, Tongzhang;
Shen, Min;
Zhang, Yawei;
Wang, Sophia;
Zahm, Shelia;
Holford, Theodore;
Leaderer, Brian;
Boyle, Peter;
Chanock, Stephen

Publication type:

Article

Times of triumph, times of doubt and the battle for public trust.

Published in:

2007

By:

Harper, Peter

Publication type:

Book Review

The glu298asp polymorphism in the nitric oxide synthase 3 gene is associated with the risk of ischemic stroke in two large independent case–control studies.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 169, doi. 10.1007/s00439-006-0302-2

By:

Berger, Klaus;
Stögbauer, Florian;
Stoll, Monika;
Wellmann, Juergen;
Huge, Andreas;
Cheng, Suzanne;
Kessler, Christof;
John, Ulrich;
Assmann, Gerd;
Ringelstein, E.;
Funke, Harald

Publication type:

Article

A case of true hermaphroditism reveals an unusual mechanism of twinning.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 179, doi. 10.1007/s00439-006-0279-x

By:

Souter, Vivienne;
Parisi, Melissa;
Nyholt, Dale;
Kapur, Raj;
Henders, Anjali;
Opheim, Kent;
Gunther, Daniel;
Mitchell, Michael;
Glass, Ian;
Montgomery, Grant

Publication type:

Article

High-resolution mapping identifies a commonly amplified 11q13.3 region containing multiple genes flanked by segmental duplications.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 187, doi. 10.1007/s00439-006-0299-6

By:

Gibcus, Johan;
Kok, Klaas;
Menkema, Lorian;
Hermsen, Mario;
Mastik, Mirjam;
Kluin, Philip;
Wal, Jacqueline;
Schuuring, Ed

Publication type:

Article

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 203, doi. 10.1007/s00439-006-0304-0

By:

Ebermann, Inga;
Scholl, Hendrik;
Charbel Issa, Peter;
Becirovic, Elvir;
Lamprecht, Jürgen;
Jurklies, Bernhard;
Millán, José;
Aller, Elena;
Mitter, Diana;
Bolz, Hanno

Publication type:

Article

Comprehensive multi-stage linkage analyses identify a locus for adult height on chromosome 3p in a healthy Caucasian population.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 213, doi. 10.1007/s00439-006-0305-z

By:

Ellis, Justine;
Scurrah, Katrina;
Duncan, Anna;
Lamantia, Angela;
Byrnes, Graham;
Harrap, Stephen

Publication type:

Article

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 243, doi. 10.1007/s00439-006-0301-3

By:

Coutinho, Ana;
Sousa, Inês;
Martins, Madalena;
Correia, Catarina;
Morgadinho, Teresa;
Bento, Celeste;
Marques, Carla;
Ataíde, Assunção;
Miguel, Teresa;
Moore, Jason;
Oliveira, Guiomar;
Vicente, Astrid

Publication type:

Article

PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 223, doi. 10.1007/s00439-006-0309-8

By:

Ni, Ronghua;
Ihara, Kenji;
Miyako, Kenichi;
Kuromaru, Ryuichi;
Inuo, Mika;
Kohno, Hitoshi;
Hara, Toshiro

Publication type:

Article

Segregation analysis of 1,546 prostate cancer families in Finland shows recessive inheritance.

Published in:

Human Genetics, 2007, v. 121, n. 2, p. 257, doi. 10.1007/s00439-006-0310-2

By:

Pakkanen, Sanna;
Baffoe-Bonnie, Agnes;
Matikainen, Mika;
Koivisto, Pasi;
Tammela, Teuvo;
Deshmukh, Snehal;
Ou, Liang;
Bailey-Wilson, Joan;
Schleutker, Johanna

Publication type:

Article

Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics.

Published in:

2007

By:

Schaid, Daniel

Publication type:

Correction Notice

Novel human pathological mutations.

Published in:: Human Genetics, 2007, v. 121, n. 2, p. 287, doi. 10.1007/s00439-006-0321-z
Publication type:: Article