Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 4

Results: 22

The phenotype of recurrent 10q22q23 deletions and duplications.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211

By:

van Bon, Bregje W. M.;
Balciuniene, Jorune;
Fruhman, Gary;
Nagamani, Sandesh Chakravarthy Sreenath;
Broome, Diane L.;
Cameron, Elizabeth;
Martinet, Danielle;
Roulet, Eliane;
Jacquemont, Sebastien;
Beckmann, Jacques S;
Irons, Mira;
Potocki, Lorraine;
Lee, Brendan;
Sau Wai Cheung;
Patel, Ankita;
Bellini, Melissa;
Selicorni, Angelo;
Ciccone, Roberto;
Silengo, Margherita;
Vetro, Annalisa

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 452, doi. 10.1038/ejhg.2010.212

By:

Clarke, Nigel F.;
Maugenre, Svetlana;
Vandebrouck, Aurélie;
Urtizberea, J. Andoni;
Willer, Tobias;
Peat, Rachel A.;
Gray, Françoise;
Bouchet, Céline;
Manya, Hiroshi;
Vuillaumier-Barrot, Sandrine;
Endo, Tamao;
Chouery, Eliane;
Campbell, Kevin P.;
Mégarbané, André;
Guicheney, Pascale

Publication type:

Article

Craniosynostosis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 369, doi. 10.1038/ejhg.2010.235

By:

Johnson, David;
Wilkie, Andrew O. M.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 438, doi. 10.1038/ejhg.2010.206

By:

Ritz, Katja;
van Schaik, Barbera D. C.;
Jakobs, Marja E.;
van Kampen, Antoine H.;
Aronica, Eleonora;
Tijssen, Marina A.;
Baas, Frank

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 382, doi. 10.1038/ejhg.2010.189

By:

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

Publication type:

Article

Clinical utility gene card for: WAGR syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.220

By:

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

Publication type:

Article

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 409, doi. 10.1038/ejhg.2010.195

By:

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

Publication type:

Article

Clinical utility gene card for: Deletion 22q13 syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.193

By:

Phelan, Katy;
Betancur, Catalina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 465, doi. 10.1038/ejhg.2010.196

By:

Tony Kam-Thong;
Czamara, Darina;
Tsuda, Koji;
Borgwardt, Karsten;
Lewis, Cathryn M.;
Erhardt-Lehmann, Angelika;
Hemmer, Bernhard;
Rieckmann, Peter;
Daake, Markus;
Weber, Frank;
Wolf, Christiane;
Ziegler, Andreas;
Pütz, Benno;
Holsboer, Florian;
Schölkopf, Bernhard;
Müller-Myhsok, Bertram

Publication type:

Article

Genetic testing and common disorders in a public health framework.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 377, doi. 10.1038/ejhg.2010.176

By:

van El, Carla G.;
Cornel, Martina C.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 445, doi. 10.1038/ejhg.2010.217

By:

Fernández-Martínez, Lorena;
Letteboer, Stef;
Mardin, Christian Y.;
Weisschuh, Nicole;
Gramer, Eugen;
Weber, Bernhard H. F.;
Rautenstrauss, Bernd;
Ferreira, Paulo A.;
Kruse, Friedrich E.;
Reis, André;
Roepman, Ronald;
Pasutto, Francesca

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 389, doi. 10.1038/ejhg.2010.224

By:

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 J. M.;
Maslen, Cheryl L.;
Reshey, Benjamin;
Doevendans, Pieter A.;
Bakkers, Jeroen

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 479, doi. 10.1038/ejhg.2010.197

By:

Sandling, Johanna K.;
Garnier, Sophie;
Sigurdsson, Snaevar;
Chuan Wang;
Nordmark, Gunnel;
Gunnarsson, Iva;
Svenungsson, Elisabet;
Padyukov, Leonid;
Sturfelt, Gunnar;
Jönsen, Andreas;
Bengtsson, Anders A.;
Truedsson, Lennart;
Eriksson, Catharina;
Rantapää-Dahlqvist, Solbritt;
Mälarstig, Anders;
Strawbridge, Rona J.;
Hamsten, Anders;
Criswell, Lindsey A.;
Graham, Robert R.;
Behrens, Timothy W.

Publication type:

Article

A nonsense mutation in FMR1 causing fragile X syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 489, doi. 10.1038/ejhg.2010.223

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.186

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207

By:

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.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 472, doi. 10.1038/ejhg.2010.198

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 432, doi. 10.1038/ejhg.2010.159

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 458, doi. 10.1038/ejhg.2010.191

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:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236

By:

Romanelli, Valeria;
Meneses, Heloisa N. M.;
Fernández, Luis;
Martínez-Glez, Victor;
Gracia-Bouthelier, Ricardo;
Fraga, Mario F.;
Guillén, Encarna;
Nevado, Julián;
Gean, Esther;
Martorell, Loreto;
Marfil, Victoria Esteban;
García-Miñaur, Sixto;
Lapunzina, Pablo

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 422, doi. 10.1038/ejhg.2010.188

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214

By:

Smits, Paulien;
Saada, Ann;
Wortmann, Saskia B.;
Heister, Angelien J.;
Brink, Maaike;
Pfundt, Rolph;
Miller, Chaya;
Haas, Dorothea;
Hantschmann, Ralph;
Rodenburg, Richard J. T.;
Smeitink, Jan A. M.;
van den Heuvel, Lambert P.

Publication type:

Article