Volume 18; Issue 5

European Journal of Human Genetics

Volume 18; Issue 5

1

Menkes disease

Tümer, Zeynep, Møller, Lisbeth B

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 610 KB

english, 2009

2

A data-driven weighting scheme for family-based genome-wide association studies

Qin, Huaizhen, Feng, Tao, Zhang, Shuanglin, Sha, Qiuying

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 529 KB

english, 2009

3

Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease

Kangas-Kontio, Tiia, Kakko, Sakari, Tamminen, Minna, von Rohr, Peter, Hoeschele, Ina, Juvonen, Tatu, Kere, Juha, Savolainen, Markku J

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 738 KB

english, 2009

4

Systematic genotype–phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism

Buizer-Voskamp, Jacobine E, Franke, Lude, Staal, Wouter G, van Daalen, Emma, Kemner, Chantal, Ophoff, Roel A, Vorstman, Jacob AS, van Engeland, Herman, Wijmenga, Cisca

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 451 KB

english, 2009

5

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Barat-Houari, Mouna, Nguyen, Karine, Bernard, Rafaëlle, Fernandez, Céline, Vovan, Catherine, Bareil, Corinne, Van Kien, Philippe Khau, Thorel, Delphine, Tuffery-Giraud, Sylvie, Vasseur, Francis

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 368 KB

english, 2009

6

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

Chen, Wei, Ullmann, Reinhard, Langnick, Claudia, Menzel, Corinna, Wotschofsky, Zofia, Hu, Hao, Döring, Andreas, Hu, Yuhui, Kang, Hui, Tzschach, Andreas

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 493 KB

english, 2009

7

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment

Pros, Eva, Fernández-Rodríguez, Juana, Benito, Llúcia, Ravella, Anna, Capellá, Gabriel, Blanco, Ignacio, Serra, Eduard, Lázaro, Conxi

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 283 KB

english, 2009

8

Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis

Alcina, Antonio, Ramagopalan, Sreeram V, Fernández, Óscar, Catalá-Rabasa, Antonio, Fedetz, María, Ndagire, Dorothy, Leyva, Laura, Arnal, Carmen, Delgado, Concepción, Lucas, Miguel

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 171 KB

english, 2009

9

Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project

Goebel, Jürgen W, Pickardt, Thomas, Bedau, Maren, Fuchs, Michael, Lenk, Christian, Paster, Inga, Spranger, Tarde M, Stockter, Ulrich, Bauer, Ulrike, Cooper, David N

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 189 KB

english, 2009

10

The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

Bettencourt, Conceição, Santos, Cristina, Montiel, Rafael, Kay, Teresa, Maciel, Patrícia, Vasconcelos, João, Lima, Manuela

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 172 KB

english, 2009

11

Enhancer elements upstream of the SHOX gene are active in the developing limb

Durand, Claudia, Bangs, Fiona, Signolet, Jason, Decker, Eva, Tickle, Cheryll, Rappold, Gudrun

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 569 KB

english, 2009

12

De Barsy syndrome and ATP6V0A2-CDG

Leao-Teles, Elisa, Quelhas, Dulce, Vilarinho, Laura, Jaeken, Jaak

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

13

Reply to Leao-Teles et al

Morava, Eva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

14

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 675 KB

english, 2009

15

Complete mitochondrial DNA sequences provide new insights into the Polynesian motif and the peopling of Madagascar

Razafindrazaka, Harilanto, Ricaut, François-X, Cox, Murray P, Mormina, Maru, Dugoujon, Jean-Michel, Randriamarolaza, Louis P, Guitard, Evelyne, Tonasso, Laure, Ludes, Bertrand, Crubézy, Eric

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 371 KB

english, 2009

16

A gene-based method for detecting gene–gene co-association in a case–control association study

Peng, Qianqian, Zhao, Jinghua, Xue, Fuzhong

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 332 KB

english, 2009

17

Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34

Stanke, Frauke, Davenport, Colin, Hedtfeld, Silke, Tümmler, Burkhard

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 449 KB

english, 2010

18

Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

Jankowski, Michał, Popławski, Andrzej B, Erickson, Stephen W, Díaz de Ståhl, Teresita, Partridge, E Christopher, Crasto, Chiquito, Guo, Jingyu, Gibson, John, Menzel, Uwe, Bruder, Carl EG

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 691 KB

english, 2010

19

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 81 KB

english, 2010

20

Italian appeal court: a genetic predisposition to commit murder?

Forzano, Francesca, Borry, Pascal, Cambon-Thomsen, Anne, Hodgson, Shirley V, Tibben, Aad, de Vries, Petrus, van El, Carla, Cornel, Martina

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 144 KB

english, 2010

21

Leena Palotie-Peltonen, 1952–2010, visionary and role model

van Ommen, Gert-Jan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

22

Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami

Huyghe, Jeroen R, Fransen, Erik, Hannula, Samuli, Van Laer, Lut, Van Eyken, Els, Mäki-Torkko, Elina, Lysholm-Bernacchi, Alana, Aikio, Pekka, Stephan, Dietrich A, Sorri, Martti, Huentelman, Matthew J,

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 513 KB

english, 2010