Works matching IS 1018-4813 AND VI 21 AND IP 5 AND DT 2013

Results: 18

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

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

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

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