Volume 19; Issue 6

European Journal of Human Genetics

Volume 19; Issue 6

1

von Hippel–Lindau disease: A clinical and scientific review

Maher, Eamonn R, Neumann, Hartmut PH, Richard, Stéphane

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 470 KB

english, 2011

2

Clinical utility gene card for: achromatopsia

Kohl, Susanne, Hamel, Christian P

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 109 KB

english, 2011

3

Clinical utility gene card for: blue cone monochromatism

Kohl, Susanne, Hamel, Christian P

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 106 KB

english, 2011

4

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome

Patel, Chirag, Cooper-Charles, Lisa, McMullan, Dominic J, Walker, Judith M, Davison, Val, Morton, Jenny

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 458 KB

english, 2011

5

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Jensen, Lars R, Chen, Wei, Moser, Bettina, Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M, Meloni, Ilaria, Raynaud, Martine

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 227 KB

english, 2011

6

Clinical utility gene card for: malignant hyperthermia

Rosenberg, Henry, Rueffert, Henrik

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011

7

Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

Palomino, Hernán, Villanueva, Pia, Newbury, Dianne F, Jara, Lilian, De Barbieri, Zulema, Mirza, Ghazala, Palomino, Hernán M, Fernández, María Angélica, Cazier, Jean-Baptiste, Monaco, Anthony P

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 719 KB

english, 2011

8

Genome-wide association study confirms extant PD risk loci among the Dutch

Simón-Sánchez, Javier, van Hilten, Jacobus J, van de Warrenburg, Bart, Post, Bart, Berendse, Henk W, Arepalli, Sampath, Hernandez, Dena G, de Bie, Rob M A, Velseboer, Daan, Scheffer, Hans

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

9

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Massart, Catherine, De Sandre-Giovannoli, Annachiara, Cadiñanos, Juan, Mamchaoui, Kamel, Butler-Browne, Gillian, Estournet, Brigitte, Yaou, Rabah Ben, Navarro, Claire, Quijano-Roy, Susana, Bertrand, A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 988 KB

english, 2011

10

Identification of regions of positive selection using Shared Genomic Segment analysis

Cai, Zheng, Camp, Nicola J, Cannon-Albright, Lisa, Thomas, Alun

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 285 KB

english, 2011

11

Parents’ and children's communication about genetic risk: a qualitative study, learning from families’ experiences

Metcalfe, Alison, Plumridge, Gill, Coad, Jane, Shanks, Andrew, Gill, Paramjit

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 649 KB

english, 2011

12

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys–Dietz syndrome fibroblasts: a possible treatment?

Barnett, Christopher P, Chitayat, David, Bradley, Timothy J, Wang, Yanting, Hinek, Aleksander

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.46 MB

english, 2011

13

Polymorphisms in MC3R promoter and CTSZ 3′UTR are associated with tuberculosis susceptibility

Adams, Lindsey A, Möller, Marlo, Nebel, Almut, Schreiber, Stefan, van der Merwe, Lize, van Helden, Paul D, Hoal, Eileen G

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 282 KB

english, 2011

14

Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets

Jostins, Luke, Morley, Katherine I, Barrett, Jeffrey C

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 324 KB

english, 2011

15

Model-Based Multifactor Dimensionality Reduction to detect epistasis for quantitative traits in the presence of error-free and noisy data

Mahachie John, Jestinah M, Van Lishout, François, Van Steen, Kristel

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 573 KB

english, 2011

16

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

Einarsdottir, Elisabet, Bevova, Marianna R, Zhernakova, Alexandra, Monsuur, Alienke, Koskinen, Lotta LE, Slot, Ruben van't, Mulder, Chris, Mearin, M Luisa, Korponay-Szabo, Ilma R, Kaukinen, Katri

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 280 KB

english, 2011

17

Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD

Saint-Pierre, Aude, Kaufman, Jean-Marc, Ostertag, Agnes, Cohen-Solal, Martine, Boland, Anne, Toye, Kaatje, Zelenika, Diana, Lathrop, Mark, de Vernejoul, Marie-Christine, Martinez, Maria

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 434 KB

english, 2011

18

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Nord, Alex S, Roeb, Wendy, Dickel, Diane E, Walsh, Tom, Kusenda, Mary, O'Connor, Kristen Lewis, Malhotra, Dheeraj, McCarthy, Shane E, Stray, Sunday M, Taylor, Susan M

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 448 KB

english, 2011

19

Pathway-based identification of SNPs predictive of survival

Hauser, Michael, Minvielle, Stéphane, Pang, Herbert

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 347 KB

english, 2011

20

Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population

Shen, Qin, Zhang, Zhou, Yu, Lan, Cao, Lan, Zhou, DaiZhan, Kan, MengYuan, Li, Baojie, Zhang, Di, He, Lin, Liu, Yun

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 161 KB

english, 2011

21

Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender

Ryoo, Hyunju, Woo, Jiyoung, Kim, Younyoung, Lee, Chaeyoung

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 196 KB

english, 2011

22

TSEN54 mutations cause pontocerebellar hypoplasia type 5

Namavar, Yasmin, Chitayat, David, Barth, Peter G, van Ruissen, Fred, de Wissel, Marit B, Poll-The, Bwee Tien, Silver, Rachel, Baas, Frank

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

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