Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 12

Results: 13

VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1246, doi. 10.1038/sj.ejhg.5201890

By:

Jun Xie;
Long Yi;
Zheng-Feng Xu;
Xu-Ming Mo;
Ya-Li Hu;
Dong-Jin Wang;
Hao-Zhen Ren;
Bing Han;
Yong Wang;
Chi Yang;
Ye-Lin Zhao;
Dong-Quan Shi;
Yong-Zhong Jiang;
Li Shen;
Di Qiao;
Shi-Lin Chen;
Bao-Jun Yu

Publication type:

Article

Genome-wide linkage scan for exercise participation in Dutch sibling pairs.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1252, doi. 10.1038/sj.ejhg.5201907

By:

De Moor, Marleen H. M.;
Posthuma, Danielle;
Hottenga, Jouke-Jan;
Willemsen, Gonneke;
Boomsma, Dorret I.;
De Geus, Eco J. C.

Publication type:

Article

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1230, doi. 10.1038/sj.ejhg.5201908

By:

Degiorgio, Dario;
Colombo, Carla;
Seia, Manuela;
Porcaro, Luigi;
Costantino, Lucy;
Zazzeron, Laura;
Bordo, Domenico;
Coviello, Domenico A.

Publication type:

Article

Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1211, doi. 10.1038/sj.ejhg.5201909

By:

Borry, Pascal;
Goffin, Tom;
Nys, Herman;
Dierickx, Kris

Publication type:

Article

A simulation-based analysis of chromosome segment sharing among a group of arbitrarily related individuals.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1260, doi. 10.1038/sj.ejhg.5201910

By:

Libiger, Ondrej;
Schork, Nicholas J.

Publication type:

Article

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1218, doi. 10.1038/sj.ejhg.5201911

By:

Hardwick, Simon A.;
Reuter, Kirsten;
Williamson, Sarah L.;
Vasudevan, Vidya;
Donald, Jennifer;
Slater, Katrina;
Bennetts, Bruce;
Bebbington, Ami;
Leonard, Helen;
Williams, Simon R.;
Smith, Robert L.;
Cloosterman, Desiree;
Christodoulou, John

Publication type:

Article

Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1205, doi. 10.1038/sj.ejhg.5201912

By:

Sasaki, Kensaku;
Soejima, Hidenobu;
Higashimoto, Ken;
Yatsuki, Hitomi;
Ohashi, Hirofumi;
Yakabe, Shinya;
Joh, Keiichiro;
Niikawa, Norio;
Mukai, Tsunehiro

Publication type:

Article

Czech dysplasia metatarsal type: another type II collagen disorder.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913

By:

Hoornaert, Kristien P.;
Marik, Ivo;
Kozlowski, Kazimierz;
Cole, Trevor;
Le Merrer, Martine;
Leroy, Jules G.;
Coucke, Paul J.;
Sillence, David;
Mortier, Geert R.

Publication type:

Article

A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1239, doi. 10.1038/sj.ejhg.5201914

By:

Xueqing Qian;
Zhigang Lu;
Miao Tan;
Hongliang Liu;
Daru Lu

Publication type:

Article

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1276, doi. 10.1038/sj.ejhg.5201924

By:

Mitne-Neto, Miguel;
Kok, Fernando;
Beetz, Christian;
Pessoa, André;
Bueno, Clarissa;
Graciani, Zodja;
Martyn, Marcilia;
Monteiro, Carlos B. M.;
Mitne, Guilherme;
Hubert, Paulo;
Nygren, Anders O. H.;
Valadares, Marcos;
Cerqueira, Antonia M. P.;
Starling, Alessandra;
Deufel, Thomas;
Zatz, Mayana

Publication type:

Article

What? Where? Which? WWW Resources for Geneticists: Bioinformatics for geneticists: a bioinformatics primer for the analysis of genetic data.

Published in:

2007

By:

't Hoen, Peter A. C.

Publication type:

Book Review

Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1203, doi. 10.1038/sj.ejhg.5201927

By:

Coviello, Domenico A.;
Skirton, Heather;
Ceratto, Nadia;
Lewis, Celine;
Kent, Alastair

Publication type:

Article

Alström Syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1193, doi. 10.1038/sj.ejhg.5201933

By:

Marshall, Jan D.;
Beck, Sebastian;
Maffei, Pietro;
Naggert, Jürgen K.

Publication type:

Article