Volume 19; Issue 4

European Journal of Human Genetics

Volume 19; Issue 4

1

Relationship between the polymorphism of tumor necrosis factor-α-308 G>A and susceptibility to inflammatory bowel diseases and colorectal cancer: a meta-analysis

Fan, Wang, Maoqing, Wang, Wangyang, Chen, Fulan, Hu, Dandan, Li, Jiaojiao, Ren, Xinshu, Dong, Binbin, Cui, Yashuang, Zhao

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 343 KB

english, 2011

2

Genetic testing and common disorders in a public health framework

van El, Carla G, Cornel, Martina C

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

3

Clinical utility gene card for: Wolf–Hirschhorn (4p-) syndrome

Battaglia, Agatino, South, Sarah, Carey, John C

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 115 KB

english, 2010

4

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

Zampieri, Stefania, Buratti, Emanuele, Dominissini, Silvia, Montalvo, Anna Lisa, Pittis, Maria Gabriela, Bembi, Bruno, Dardis, Andrea

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 571 KB

english, 2010

5

Personal genetics: regulatory framework in Europe from a service provider's perspective

Grimaldi, Keith A, Look, Markus P, Scioli, G Antonio, Clavero, Juan Coll, Marinos, Stathis, Tagaris, Tassos

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

6

Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia

Ferreira, Manuel A R, McRae, Allan F, Medland, Sarah E, Nyholt, Dale R, Gordon, Scott D, Wright, Margaret J, Henders, Anjali K, Madden, Pamela A, Visscher, Peter M, Wray, Naomi R

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 411 KB

english, 2010

7

Clinical utility gene card for: Deletion 22q13 syndrome

Phelan, Katy, Betancur, Catalina

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 110 KB

english, 2010

8

MECP2 duplications in six patients with complex sex chromosome rearrangements

Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 569 KB

english, 2010

9

EPIBLASTER-fast exhaustive two-locus epistasis detection strategy using graphical processing units

Kam-Thong, Tony, Czamara, Darina, Tsuda, Koji, Borgwardt, Karsten, Lewis, Cathryn M, Erhardt-Lehmann, Angelika, Hemmer, Bernhard, Rieckmann, Peter, Daake, Markus, Weber, Frank

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 518 KB

english, 2010

10

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

Sandling, Johanna K, Garnier, Sophie, Sigurdsson, Snaevar, Wang, Chuan, Nordmark, Gunnel, Gunnarsson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Sturfelt, Gunnar, Jönsen, Andreas

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 427 KB

english, 2010

11

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling

McWilliams, Robert R, Wieben, Eric D, Rabe, Kari G, Pedersen, Katrina S, Wu, Yanhong, Sicotte, Hugues, Petersen, Gloria M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 303 KB

english, 2010

12

SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?

Ritz, Katja, van Schaik, Barbera DC, Jakobs, Marja E, van Kampen, Antoine H, Aronica, Eleonora, Tijssen, Marina A, Baas, Frank

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 573 KB

english, 2010

13

Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

Pereiro, Ines, Hoskins, Bethan E, Marshall, Jan D, Collin, Gayle B, Naggert, Jürgen K, Piñeiro-Gallego, Teresa, Oitmaa, Eneli, Katsanis, Nicholas, Valverde, Diana, Beales, Philip L

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 206 KB

english, 2010

14

The phenotype of recurrent 10q22q23 deletions and duplications

van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckma

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 568 KB

english, 2011

15

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Clarke, Nigel F, Maugenre, Svetlana, Vandebrouck, Aurélie, Urtizberea, J Andoni, Willer, Tobias, Peat, Rachel A, Gray, Françoise, Bouchet, Céline, Manya, Hiroshi, Vuillaumier-Barrot, Sandrine

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

16

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Smits, Paulien, Saada, Ann, Wortmann, Saskia B, Heister, Angelien J, Brink, Maaike, Pfundt, Rolph, Miller, Chaya, Haas, Dorothea, Hantschmann, Ralph, Rodenburg, Richard J T

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 383 KB

english, 2010

17

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Fernández-Martínez, Lorena, Letteboer, Stef, Mardin, Christian Y, Weisschuh, Nicole, Gramer, Eugen, Weber, Bernhard HF, Rautenstrauss, Bernd, Ferreira, Paulo A, Kruse, Friedrich E, Reis, André

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 441 KB

english, 2011

18

Clinical utility gene card for: WAGR syndrome

Clericuzio, Carol, Hingorani, Melanie, Crolla, John A, van Heyningen, Veronica, Verloes, Alain

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 113 KB

english, 2011

19

A nonsense mutation in FMR1 causing fragile X syndrome

Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

20

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

Joziasse, Irene C, Smith, Kelly A, Chocron, Sonja, van Dinther, Maarten, Guryev, Victor, van de Smagt, Jasper J, Cuppen, Edwin, ten Dijke, Peter, Mulder, Barbara JM, Maslen, Cheryl L

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 401 KB

english, 2011

21

Craniosynostosis

Johnson, David, Wilkie, Andrew O M

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 699 KB

english, 2011

22

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Romanelli, Valeria, Meneses, Heloisa N M, Fernández, Luis, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, F Fraga, Mario, Guillén, Encarna, Nevado, Julián, Gean, Esther, Martorell, Loreto

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 459 KB

english, 2011

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