Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 5

Results: 18

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
By:
- Harakalova, Magdalena;
- van der Smagt, Jasper;
- de Kovel, Carolien G F;
- van't Slot, Ruben;
- Poot, Martin;
- Nijman, Isaac J;
- Medic, Jelena;
- Joziasse, Irene;
- Deckers, Jaap;
- Roos-Hesselink, Jolien W;
- Wessels, Marja W;
- Baars, Hubert F;
- Weiss, Marjan M;
- Pals, Gerard;
- Golmard, Lisa;
- Jeunemaitre, Xavier;
- Lindhout, Dick;
- Cuppen, Edwin;
- Baas, Annette F
Publication type:
Article
A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 517, doi. 10.1038/ejhg.2012.197
By:
- Dodd, Andrew W;
- Syddall, Catherine M;
- Loughlin, John
Publication type:
Article
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 522, doi. 10.1038/ejhg.2012.208
By:
- Ellaway, Carolyn J;
- Ho, Gladys;
- Bettella, Elisa;
- Knapman, Alisa;
- Collins, Felicity;
- Hackett, Anna;
- McKenzie, Fiona;
- Darmanian, Artur;
- Peters, Gregory B;
- Fagan, Kerry;
- Christodoulou, John
Publication type:
Article
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 511, doi. 10.1038/ejhg.2012.204
By:
- Bellido, Fernando;
- Guinó, Elisabet;
- Jagmohan-Changur, Shantie;
- Seguí, Nuria;
- Pineda, Marta;
- Navarro, Matilde;
- Lázaro, Conxi;
- Blanco, Ignacio;
- Vasen, Hans FA;
- Moreno, Victor;
- Capellá, Gabriel;
- Wijnen, Juul T;
- Valle, Laura
Publication type:
Article
EJHG to follow variation nomenclature and stimulate data reporting.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 479, doi. 10.1038/ejhg.2013.54
By:
- van Ommen, GertJan B
Publication type:
Article
Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 503, doi. 10.1038/ejhg.2012.205
By:
- Celestino, Ricardo;
- Lima, Jorge;
- Faustino, Alexandra;
- Vinagre, João;
- Máximo, Valdemar;
- Gouveia, António;
- Soares, Paula;
- Manuel Lopes, José
Publication type:
Article
AKT1 fails to replicate as a longevity-associated gene in Danish and German nonagenarians and centenarians.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 574, doi. 10.1038/ejhg.2012.196
By:
- Nygaard, Marianne;
- Soerensen, Mette;
- Flachsbart, Friederike;
- Mengel-From, Jonas;
- Tan, Qihua;
- Schreiber, Stefan;
- Nebel, Almut;
- Christensen, Kaare;
- Christiansen, Lene
Publication type:
Article
Public support and consent preference for biomedical research and biobanking in Jordan.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 567, doi. 10.1038/ejhg.2012.213
By:
- Ahram, Mamoun;
- Othman, Areej;
- Shahrouri, Manal
Publication type:
Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 528, doi. 10.1038/ejhg.2012.202
By:
- Fragaki, Konstantina;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Gire, Catherine;
- Mengual, Raymond;
- Bonesso, Laurent;
- Bénéteau, Marie;
- Ricci, Jean-Ehrland;
- Desquiret-Dumas, Valérie;
- Procaccio, Vincent;
- Rötig, Agnès;
- Paquis-Flucklinger, Véronique
Publication type:
Article
Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 563, doi. 10.1038/ejhg.2012.207
By:
- Oosterveer, Daniëlla M;
- Versmissen, Jorie;
- Defesche, Joep C;
- Sivapalaratnam, Suthesh;
- Yazdanpanah, Mojgan;
- Mulder, Monique;
- van der Zee, Leonie;
- Uitterlinden, André G;
- van Duijn, Cornelia M;
- Hofman, Albert;
- Kastelein, John J P;
- Aulchenko, Yurii S;
- Sijbrands, Eric J G
Publication type:
Article
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 494, doi. 10.1038/ejhg.2012.209
By:
- Reinstein, Eyal;
- Frentz, Sophia;
- Morgan, Tim;
- García-Miñaúr, Sixto;
- Leventer, Richard J;
- McGillivray, George;
- Pariani, Mitchel;
- van der Steen, Anthony;
- Pope, Michael;
- Holder-Espinasse, Muriel;
- Scott, Richard;
- Thompson, Elizabeth M;
- Robertson, Terry;
- Coppin, Brian;
- Siegel, Robert;
- Bret Zurita, Montserrat;
- Rodríguez, Jose I;
- Morales, Carmen;
- Rodrigues, Yuri;
- Arcas, Joaquín
Publication type:
Article
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 535, doi. 10.1038/ejhg.2012.221
By:
- Ben-Shachar, Shay;
- Constantini, Shlomi;
- Hallevi, Hen;
- Sach, Emma K;
- Upadhyaya, Meena;
- Evans, Gareth D;
- Huson, Susan M
Publication type:
Article
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 540, doi. 10.1038/ejhg.2012.201
By:
- Oliveira, Jorge;
- Oliveira, Márcia E;
- Kress, Wolfram;
- Taipa, Ricardo;
- Pires, Manuel Melo;
- Hilbert, Pascale;
- Baxter, Peter;
- Santos, Manuela;
- Buermans, Henk;
- den Dunnen, Johan T;
- Santos, Rosário
Publication type:
Article
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 571, doi. 10.1038/ejhg.2012.153
By:
- Roos, Sara;
- Darin, Niklas;
- Kollberg, Gittan;
- Andersson Grönlund, Marita;
- Tulinius, Mar;
- Holme, Elisabeth;
- Moslemi, Ali-Reza;
- Oldfors, Anders
Publication type:
Article
Stronger signal of recent selection for lactase persistence in Maasai than in Europeans.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 550, doi. 10.1038/ejhg.2012.199
By:
- Schlebusch, Carina M;
- Sjödin, Per;
- Skoglund, Pontus;
- Jakobsson, Mattias
Publication type:
Article
Genetic ancestry inference using support vector machines, and the active emergence of a unique American population.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 554, doi. 10.1038/ejhg.2012.258
By:
- Haasl, Ryan J;
- McCarty, Catherine A;
- Payseur, Bret A
Publication type:
Article
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 480, doi. 10.1038/ejhg.2012.200
By:
- Losekoot, Monique;
- van Belzen, Martine J;
- Seneca, Sara;
- Bauer, Peter;
- Stenhouse, Susan A R;
- Barton, David E
Publication type:
Article
Genetic ancestry inference using support vector machines, and the active emergence of a unique American population.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 578, doi. 10.1038/ejhg.2013.35
By:
- Haasl, Ryan J;
- McCarty, Catherine A;
- Payseur, Bret A
Publication type:
Article