Volume 15; Issue 9

European Journal of Human Genetics

Volume 15; Issue 9

1

Support for involvement of the AHI1 locus in schizophrenia

Ingason, Andres, Sigmundsson, Thordur, Steinberg, Stacy, Sigurdsson, Engilbert, Haraldsson, Magnus, Magnusdottir, Brynja B, Frigge, Michael L, Kong, Augustine, Gulcher, Jeffrey, Thorsteinsdottir, Unnu

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 105 KB

english, 2007

2

ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study

Girelli, Domenico, Martinelli, Nicola, Trabetti, Elisabetta, Olivieri, Oliviero, Cavallari, Ugo, Malerba, Giovanni, Busti, Fabiana, Friso, Simonetta, Pizzolo, Francesca, Pignatti, Pier Franco

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

3

No association of ERCC1 C8092A and T19007C polymorphisms to cancer risk: a meta-analysis

Li, Yuanchun, Gu, Shaohua, Wu, Qihan, Li, Yao, Fu, Xuping, Mao, Yumin, Huang, Yan, Xie, Yi

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 149 KB

english, 2007

4

The MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients

Alemayehu, Aster, Fridrichova, Ivana

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 194 KB

english, 2007

5

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

Sahoo, Trilochan, Bacino, Carlos A, German, Jennifer R, Shaw, Chad A, Bird, Lynne M, Kimonis, Virginia, Anselm, Irinia, Waisbren, Susan, Beaudet, Arthur L, Peters, Sarika U

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 150 KB

english, 2007

6

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome

de Vries, Bert B A, Pals, Gerard, Odink, Roelof, Hamel, Ben C J

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 169 KB

english, 2007

7

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects

Gouas, L, Nicaud, V, Chaouch, S, Berthet, M, Forhan, A, Tichet, J, Tiret, L, Balkau, B, Guicheney, P

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 88 KB

english, 2007

8

How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network

Kroese, Mark, Zimmern, Ron L, Farndon, Peter, Stewart, Fiona, Whittaker, Joanne

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 80 KB

english, 2007

9

Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2

Pezzetti, Furio, Palmieri, Annalisa, Martinelli, Marcella, Scapoli, Luca, Arlotti, Marzia, Baciliero, Ugo, Padula, Ernesto, Carinci, Paolo, Caramelli, Elisabetta, Carinci, Francesco

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 57 KB

english, 2007

10

Population genetics of familial Mediterranean fever: a review

Yepiskoposyan, Levon, Harutyunyan, Ashot

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 87 KB

english, 2007

11

A comprehensive screen for SNP associations on chromosome region 5q31–33 in Swedish/Norwegian celiac disease families

Amundsen, Silja Svanstrøm, Adamovic, Svetlana, Hellqvist, Åsa, Nilsson, Staffan, Gudjónsdóttir, Audur H, Ascher, Henry, Ek, Johan, Larsson, Kristina, Wahlström, Jan, Lie, Benedicte A

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 186 KB

english, 2007

12

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Bleyl, S B, Moshrefi, A, Shaw, G M, Saijoh, Y, Schoenwolf, G C, Pennacchio, L A, Slavotinek, A M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 320 KB

english, 2007

13

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene

Boulling, Arnaud, Le Maréchal, Cédric, Trouvé, Pascal, Raguénès, Odile, Chen, Jian-Min, Férec, Claude

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 153 KB

english, 2007

14

Genetics of the ECG: QT or not QT- A genetic analysis of a complex electrophysiological trait confirms several previously detected associations

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 53 KB

english, 2007