Volume 19; Issue 10

European Journal of Human Genetics

Volume 19; Issue 10

1

Clinical utility gene card for: Menkes disease

Tümer, Zeynep, Klomp, Leo

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 216 KB

english, 2011

2

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

3

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Arslan-Kirchner, Mine, Epplen, Jörg T, Faivre, Laurence, Jondeau, Guillaume, Schmidtke, Jörg, De Paepe, Anne, Loeys, Bart

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 198 KB

english, 2011

4

Clinical utility gene card for: Alström syndrome

Marshall, Jan D, Maffei, Pietro, Beck, Sebastian, Barrett, Timothy G, Paisey, Richard B

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 166 KB

english, 2011

5

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

Anney, Richard J L, Kenny, Elaine M, O'Dushlaine, Colm, Yaspan, Brian L, Parkhomenka, Elena, Buxbaum, Joseph D, Sutcliffe, James, Gill, Michael, Gallagher, Louise, Bailey§, Anthony J

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 355 KB

english, 2011

6

Assessing the pathological relevance of SPINK1 promoter variants

Boulling, Arnaud, Witt, Heiko, Chandak, Giriraj Ratan, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Reddy, D Nageshwar, Cooper, David N, Chen, Jian-Min, Férec, Claude

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 571 KB

english, 2011

7

Finding disease genes: a fast and flexible approach for analyzing high-throughput data

Stewart, William C L, Drill, Esther N, Greenberg, David A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 276 KB

english, 2011

8

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

Chong, Jessica X, Oktay, A Afşin, Dai, Zunyan, Swoboda, Kathryn J, Prior, Thomas W, Ober, Carole

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 578 KB

english, 2011

9

Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655

Søndergaard, Helle Bach, Sellebjerg, Finn, Hillert, Jan, Olsson, Tomas, Kockum, Ingrid, Lindén, Magdalena, Mero, Inger-Lise, Myhr, Kjell-Morten, Celius, Elisabeth G, Harbo, Hanne F

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 246 KB

english, 2011

10

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

Also-Rallo, Eva, Alías, Laura, Martínez-Hernández, Rebeca, Caselles, Lidia, Barceló, María J, Baiget, Montserrat, Bernal, Sara, Tizzano, Eduardo F

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 549 KB

english, 2011

11

GWAS Integrator: a bioinformatics tool to explore human genetic associations reported in published genome-wide association studies

Yu, Wei, Yesupriya, Ajay, Wulf, Anja, Hindorff, Lucia A, Dowling, Nicole, Khoury, Muin J, Gwinn, Marta

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 515 KB

english, 2011

12

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence C S, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 641 KB

english, 2011

13

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law

Huys, Isabelle, Van Overwalle, Geertrui, Matthijs, Gert

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 205 KB

english, 2011

14

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Théry, Jean Christophe, Krieger, Sophie, Gaildrat, Pascaline, Révillion, Françoise, Buisine, Marie-Pierre, Killian, Audrey, Duponchel, Christiane, Rousselin, Antoine, Vaur, Dominique, Peyrat, Jean-Phi

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 378 KB

english, 2011

15

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:

2011

Language:

english

File:

PDF, 89 KB

english, 2011

16

Rapid aneuploidy detection or karyotyping? Ethical reflection

de Jong, Antina, Dondorp, Wybo J, Timmermans, Daniëlle RM, van Lith, Jan MM, de Wert, Guido MWR

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

17

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

Sarkozy, Anna, Windpassinger, Christian, Hudson, Judith, Dougan, Charlotte F, Lecky, Bryan, Hilton-Jones, David, Eagle, Michelle, Charlton, Richard, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate, Str

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 423 KB

english, 2011

18

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, Heath, Andrew C, Mon

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

19

Mosaics and moles

Sunde, Lone, Niemann, Isa, Hansen, Estrid Staehr, Hindkjaer, Johnny, Degn, Birte, Jensen, Uffe Birk, Bolund, Lars

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 366 KB

english, 2011

20

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence CS, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

21

A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk

Webb, Emily, Broderick, Peter, Lubbe, Steven, Chandler, Ian, Tomlinson, Ian, Houlston, Richard S

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 87 KB

english, 2011

22

Normal glycosylation screening does not rule out SRD5A3-CDG

Mohamed, Miski, Cantagrel, Vincent, Al-Gazali, Lihadh, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 75 KB

english, 2011

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