Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 10

Results: 22

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1038, doi. 10.1038/ejhg.2011.84

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1074, doi. 10.1038/ejhg.2011.86

By:

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, Erica J.;
Allman, Denis;
Millington-Ward, Sophia;
Palfi, Arpad;
McKee, Alex;
Blanton, Susan H.;
Slifer, Susan;
Konidari, Ioanna;
Farrar, G. Jane

Publication type:

Article

Clinical utility gene card for: Alström syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.72

By:

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

Publication type:

Article

Mosaics and moles.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1026, doi. 10.1038/ejhg.2011.93

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1052, doi. 10.1038/ejhg.2011.100

By:

Théry, Jean Christophe;
Krieger, Sophie;
Gaildrat, Pascaline;
Révillion, Françoise;
Buisine, Marie-Pierre;
Killian, Audrey;
Duponchel, Christiane;
Rousselin, Antoine;
Vaur, Dominique;
Peyrat, Jean-Philippe;
Berthet, Pascaline;
Frébourg, Thierry;
Martins, Alexandra;
Hardouin, Agnès;
Tosi, Mario

Publication type:

Article

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

Published in:

2011

By:

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, Erica J;
Allman, Denis;
Millington-Ward, Sophia;
Palfi, Arpad;
McKee, Alex;
Blanton, Susan H;
Slifer, Susan;
Konidari, Ioanna;
Farrar, G Jane

Publication type:

Correction Notice

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1032, doi. 10.1038/ejhg.2011.67

By:

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

Publication type:

Article

Rapid aneuploidy detection or karyotyping? Ethical reflection.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1020, doi. 10.1038/ejhg.2011.82

By:

de Jong, Antina;
Dondorp, Wybo J.;
Timmermans, Daniëlle R. M.;
van Lith, Jan M. M.;
de Wert, Guido M. W. R.

Publication type:

Article

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Published in:

2011

By:

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

Publication type:

Correction Notice

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1059, doi. 10.1038/ejhg.2011.89

By:

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

Publication type:

Article

Clinical utility gene card for: Menkes disease.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.56

By:

Tümer, Zeynep;
Klomp, Leo

Publication type:

Article

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

Published in:

2011

By:

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

Publication type:

Correction Notice

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1104, doi. 10.1038/ejhg.2011.76

By:

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

Publication type:

Article

Assessing the pathological relevance of SPINK1 promoter variants.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1066, doi. 10.1038/ejhg.2011.79

By:

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

Publication type:

Article

Normal glycosylation screening does not rule out SRD5A3-CDG.

Published in:

2011

By:

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

Publication type:

Letter

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.68

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1090, doi. 10.1038/ejhg.2011.81

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1095, doi. 10.1038/ejhg.2011.91

By:

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

Publication type:

Article

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

Published in:

2011

By:

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;
Montgomery, Grant W;
Duffy, David L;
Martin, Nicholas G

Publication type:

Correction Notice

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1082, doi. 10.1038/ejhg.2011.75

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1045, doi. 10.1038/ejhg.2011.85

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1100, doi. 10.1038/ejhg.2011.88

By:

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.;
Christensen, Jeppe Romme;
Börnsen, Lars;
Sørensen, Per Soelberg;
Oturai, Annette Bang

Publication type:

Article