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
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
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
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
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