Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 7

Results: 19

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 856, doi. 10.1038/ejhg.2013.254

By:

Srebniak, Malgorzata I;
Diderich, Karin EM;
Govaerts, Lutgarde CP;
Joosten, Marieke;
Riedijk, Sam;
Galjaard, Robert Jan H;
Van Opstal, Diane

Publication type:

Article

Optimization of a pentaplex panel for MSI analysis without control DNA in a Brazilian population: correlation with ancestry markers.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 875, doi. 10.1038/ejhg.2013.256

By:

Campanella, Nathália C;
Berardinelli, Gustavo N;
Scapulatempo-Neto, Cristovam;
Viana, Danilo;
Palmero, Edenir I;
Pereira, Rui;
Reis, Rui M

Publication type:

Article

Clinical utility gene card for: Hyperlipoproteinemia, TYPE II.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 1, doi. 10.1038/ejhg.2013.271

By:

Kassner, Ursula;
Wühle-Demuth, Marion;
Missala, Isabelle;
Humphries, Steve E;
Steinhagen-Thiessen, Elisabeth;
Demuth, Ilja

Publication type:

Article

Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 938, doi. 10.1038/ejhg.2013.264

By:

Voruganti, V Saroja;
Franceschini, Nora;
Haack, Karin;
Laston, Sandra;
MacCluer, Jean W;
Umans, Jason G;
Comuzzie, Anthony G;
North, Kari E;
Cole, Shelley A

Publication type:

Article

Is a requirement of personalised assent realistic? A case from the GABRIEL project.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 855, doi. 10.1038/ejhg.2013.259

By:

Waligora, Marcin

Publication type:

Article

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 907, doi. 10.1038/ejhg.2013.268

By:

Prokudin, Ivan;
Simons, Cas;
Grigg, John R;
Storen, Rebecca;
Kumar, Vikrant;
Phua, Zai Y;
Smith, James;
Flaherty, Maree;
Davila, Sonia;
Jamieson, Robyn V

Publication type:

Article

Distribution of ancestral chromosomal segments in admixed genomes and its implications for inferring population history and admixture mapping.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 930, doi. 10.1038/ejhg.2013.265

By:

Jin, Wenfei;
Li, Ran;
Zhou, Ying;
Xu, Shuhua

Publication type:

Article

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 881, doi. 10.1038/ejhg.2013.263

By:

Jones, Gabriela E;
Ostergaard, Pia;
Moore, Anthony T;
Connell, Fiona C;
Williams, Denise;
Quarrell, Oliver;
Brady, Angela F;
Spier, Isabel;
Hazan, Filiz;
Moldovan, Oana;
Wieczorek, Dagmar;
Mikat, Barbara;
Petit, Florence;
Coubes, Christine;
Saul, Robert A;
Brice, Glen;
Gordon, Kristiana;
Jeffery, Steve;
Mortimer, Peter S;
Vasudevan, Pradeep C

Publication type:

Article

Clinical utility gene card for: Xeroderma pigmentosum.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 1, doi. 10.1038/ejhg.2013.233

By:

Schubert, Steffen;
Lehmann, Janin;
Kalfon, Limor;
Slor, Hanoch;
Falik-Zaccai, Tzipora C;
Emmert, Steffen

Publication type:

Article

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269

By:

Spiegel, Ronen;
Saada, Ann;
Halvardson, Jonatan;
Soiferman, Devorah;
Shaag, Avraham;
Edvardson, Simon;
Horovitz, Yoseph;
Khayat, Morad;
Shalev, Stavit A;
Feuk, Lars;
Elpeleg, Orly

Publication type:

Article

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154

By:

Gardeitchik, Thatjana;
Mohamed, Miski;
Fischer, Björn;
Lammens, Martin;
Lefeber, Dirk;
Lace, Baiba;
Parker, Michael;
Kim, Ki-Joong;
Lim, Bing C;
Häberle, Johannes;
Garavelli, Livia;
Jagadeesh, Sujatha;
Kariminejad, Ariana;
Guerra, Deanna;
Leão, Michel;
Keski-Filppula, Riikka;
Brunner, Han;
Nijtmans, Leo;
van den Heuvel, Bert;
Wevers, Ron

Publication type:

Article

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 923, doi. 10.1038/ejhg.2012.309

By:

Aretz, Stefan;
Tricarico, Rossella;
Papi, Laura;
Spier, Isabel;
Pin, Elisa;
Horpaopan, Sukanya;
Cordisco, Emanuela Lucci;
Pedroni, Monica;
Stienen, Dietlinde;
Gentile, Annamaria;
Panza, Anna;
Piepoli, Ada;
de Leon, Maurizio Ponz;
Friedl, Waltraut;
Viel, Alessandra;
Genuardi, Maurizio

Publication type:

Article

Reply to Waligora.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 855, doi. 10.1038/ejhg.2013.260

By:

Giesbertz, Noor A A;
Bredenoord, Annelien L;
van Delden, Johannes J M

Publication type:

Article

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 859, doi. 10.1038/ejhg.2013.267

By:

Ioannou, Liane;
Massie, John;
Lewis, Sharon;
Collins, Veronica;
McClaren, Belinda;
Delatycki, Martin B

Publication type:

Article

Structural genomic variation in childhood epilepsies with complex phenotypes.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262

By:

Helbig, Ingo;
Swinkels, Marielle E M;
Aten, Emmelien;
Caliebe, Almuth;
van 't Slot, Ruben;
Boor, Rainer;
von Spiczak, Sarah;
Muhle, Hiltrud;
Jähn, Johanna A;
van Binsbergen, Ellen;
van Nieuwenhuizen, Onno;
Jansen, Floor E;
Braun, Kees P J;
de Haan, Gerrit-Jan;
Tommerup, Niels;
Stephani, Ulrich;
Hjalgrim, Helle;
Poot, Martin;
Lindhout, Dick;
Brilstra, Eva H

Publication type:

Article

What hinders minority ethnic access to cancer genetics services and what may help?

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 866, doi. 10.1038/ejhg.2013.257

By:

Allford, Anna;
Qureshi, Nadeem;
Barwell, Julian;
Lewis, Celine;
Kai, Joe

Publication type:

Article

Genealogical analysis as a new approach for the investigation of drug intolerance heritability.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 916, doi. 10.1038/ejhg.2013.270

By:

Tremblay, Marc;
Bouhali, Tarek;
Gaudet, Daniel;
Brisson, Diane

Publication type:

Article

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 949, doi. 10.1038/ejhg.2013.274

By:

Beck, Tim;
Hastings, Robert K;
Gollapudi, Sirisha;
Free, Robert C;
Brookes, Anthony J

Publication type:

Article

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 944, doi. 10.1038/ejhg.2013.252

By:

Leutermann, Ruth;
Sheikhzadeh, Sara;
Brockstädt, Lars;
Rybczynski, Meike;
van Rahden, Vanessa;
Kutsche, Kerstin;
von Kodolitsch, Yskert;
Rosenberger, Georg

Publication type:

Article