Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 6

Results: 23

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229

By:

Wilson, Gabrielle R;
Sunley, Jasmine;
Smith, Katherine R;
Pope, Kate;
Bromhead, Catherine J;
Fitzpatrick, Elizabeth;
Di Rocco, Maja;
van Steensel, Maurice;
Coman, David J;
Leventer, Richard J;
Delatycki, Martin B;
Amor, David J;
Bahlo, Melanie;
Lockhart, Paul J

Publication type:

Article

Underestimation of heritability using a mixed model with a polygenic covariance structure in a genome-wide association study for complex traits.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 851, doi. 10.1038/ejhg.2013.236

By:

Ryoo, Hyunju;
Lee, Chaeyoung

Publication type:

Article

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 762, doi. 10.1038/ejhg.2013.241

By:

Horn, Denise;
Wieczorek, Dagmar;
Metcalfe, Kay;
Barić, Ivo;
Paležac, Lidija;
Ćuk, Mario;
Petković Ramadža, Danijela;
Krüger, Ulrike;
Demuth, Stephanie;
Heinritz, Wolfram;
Linden, Tobias;
Koenig, Jens;
Robinson, Peter N;
Krawitz, Peter

Publication type:

Article

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250

By:

Tajsharghi, Homa;
Hammans, Simon;
Lindberg, Christopher;
Lossos, Alexander;
Clarke, Nigel F;
Mazanti, Ingrid;
Waddell, Leigh B;
Fellig, Yakov;
Foulds, Nicola;
Katifi, Haider;
Webster, Richard;
Raheem, Olayinka;
Udd, Bjarne;
Argov, Zohar;
Oldfors, Anders

Publication type:

Article

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 726, doi. 10.1038/ejhg.2013.222

By:

Graul-Neumann, Luitgard M;
Deichsel, Alexandra;
Wille, Ulrike;
Kakar, Naseebullah;
Koll, Randi;
Bassir, Christian;
Ahmad, Jamil;
Cormier-Daire, Valerie;
Mundlos, Stefan;
Kubisch, Christian;
Borck, Guntram;
Klopocki, Eva;
Mueller, Thomas D;
Doelken, Sandra C;
Seemann, Petra

Publication type:

Article

Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 814, doi. 10.1038/ejhg.2013.227

By:

Gauvin, Héloïse;
Moreau, Claudia;
Lefebvre, Jean-François;
Laprise, Catherine;
Vézina, Hélène;
Labuda, Damian;
Roy-Gagnon, Marie-Hélène

Publication type:

Article

Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 748, doi. 10.1038/ejhg.2013.237

By:

Scriven, Paul N;
Bint, Susan M;
Davies, Angela F;
Ogilvie, Caroline Mackie

Publication type:

Article

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 754, doi. 10.1038/ejhg.2013.253

By:

Lo Giacco, Deborah;
Chianese, Chiara;
Sánchez-Curbelo, Josvany;
Bassas, Lluis;
Ruiz, Patricia;
Rajmil, Osvaldo;
Sarquella, Joaquim;
Vives, Alvaro;
Ruiz-Castañé, Eduard;
Oliva, Rafael;
Ars, Elisabet;
Krausz, Csilla

Publication type:

Article

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 792, doi. 10.1038/ejhg.2013.248

By:

Tucker, Tracy;
Zahir, Farah R;
Griffith, Malachi;
Delaney, Allen;
Chai, David;
Tsang, Erica;
Lemyre, Emmanuelle;
Dobrzeniecka, Sylvia;
Marra, Marco;
Eydoux, Patrice;
Langlois, Sylvie;
Hamdan, Fadi F;
Michaud, Jacques L;
Friedman, Jan M

Publication type:

Article

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 776, doi. 10.1038/ejhg.2013.243

By:

Piton, Amélie;
Poquet, Hélène;
Redin, Claire;
Masurel, Alice;
Lauer, Julia;
Muller, Jean;
Thevenon, Julien;
Herenger, Yvan;
Chancenotte, Sophie;
Bonnet, Marlène;
Pinoit, Jean-Michel;
Huet, Frédéric;
Thauvin-Robinet, Christel;
Jaeger, Anne-Sophie;
Le Gras, Stéphanie;
Jost, Bernard;
Gérard, Bénédicte;
Peoc'h, Katell;
Launay, Jean-Marie;
Faivre, Laurence

Publication type:

Article

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 768, doi. 10.1038/ejhg.2013.232

By:

Brownstein, Zippora;
Abu-Rayyan, Amal;
Karfunkel-Doron, Daphne;
Sirigu, Serena;
Davidov, Bella;
Shohat, Mordechai;
Frydman, Moshe;
Houdusse, Anne;
Kanaan, Moien;
Avraham, Karen B

Publication type:

Article

German Ethics Council on genetic diagnostics: trend setting?

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 831, doi. 10.1038/ejhg.2013.239

By:

Buechner, Bianca

Publication type:

Article

Common genetic variants do not associate with CAD in familial hypercholesterolemia.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 809, doi. 10.1038/ejhg.2013.242

By:

van Iperen, Erik P A;
Sivapalaratnam, Suthesh;
Boekholdt, S Matthijs;
Hovingh, G Kees;
Maiwald, Stephanie;
Tanck, Michael W;
Soranzo, Nicole;
Stephens, Jonathan C;
Sambrook, Jennifer G;
Levi, Marcel;
Ouwehand, Willem H;
Kastelein, John JP;
Trip, Mieke D;
Zwinderman, Aeilko H

Publication type:

Article

A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 833, doi. 10.1038/ejhg.2013.245

By:

Cheah, Peh Yean;
Wong, Yu Hui;
Koh, Poh Koon;
Loi, Carol;
Chew, Min Hoe;
Tang, Choong Leong

Publication type:

Article

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 715, doi. 10.1038/ejhg.2013.247

By:

Li, Yun R;
Levine, John E;
Hakonarson, Hakon;
Keating, Brendan J

Publication type:

Article

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 847, doi. 10.1038/ejhg.2013.231

By:

Zhao, Hui;
Race, Valérie;
Matthijs, Gert;
De Jonghe, Peter;
Robberecht, Wim;
Lambrechts, Diether;
Van Damme, Philip

Publication type:

Article

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 822, doi. 10.1038/ejhg.2013.235

By:

Garg, Paras;
Ludwig, Kerstin U;
Böhmer, Anne C;
Rubini, Michele;
Steegers-Theunissen, Regine;
Mossey, Peter A;
Mangold, Elisabeth;
Sharp, Andrew J

Publication type:

Article

Allele-specific regulation of DISC1 expression by miR-135b-5p.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 840, doi. 10.1038/ejhg.2013.246

By:

Rossi, Mari;
Kilpinen, Helena;
Muona, Mikko;
Surakka, Ida;
Ingle, Catherine;
Lahtinen, Jenni;
Hennah, William;
Ripatti, Samuli;
Hovatta, Iiris

Publication type:

Article

Site-specific methylation of placental HSD11B2 gene promoter is related to intrauterine growth restriction.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 734, doi. 10.1038/ejhg.2013.226

By:

Zhao, Yan;
Gong, Xia;
Chen, Li;
Li, Luxi;
Liang, Yuan;
Chen, ShangQin;
Zhang, Yunhui

Publication type:

Article

HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 837, doi. 10.1038/ejhg.2013.251

By:

Beukers, Willemien;
Hercegovac, Aleksander;
Zwarthoff, Ellen C

Publication type:

Article

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249

By:

de Munnik, Sonja A;
García-Miñaúr, Sixto;
Hoischen, Alexander;
van Bon, Bregje W;
Boycott, Kym M;
Schoots, Jeroen;
Hoefsloot, Lies H;
Knoers, Nine VAM;
Bongers, Ernie MHF;
Brunner, Han G

Publication type:

Article

Dysfunctional NF-κB and brain myelin formation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 724, doi. 10.1038/ejhg.2013.240

By:

Kretz, Alexandra;
Herrmann, Karl-Heinz;
Fischer, Stefanie;
Engelmann, Christian;
Witte, Otto W;
Reichenbach, Jürgen R;
Weih, Falk;
Haenold, Ronny

Publication type:

Article

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 784, doi. 10.1038/ejhg.2013.238

By:

Masvidal, Laia;
Igreja, Susana;
Ramos, Maria D;
Alvarez, Antoni;
de Gracia, Javier;
Ramalho, Anabela;
Amaral, Margarida D;
Larriba, Sara;
Casals, Teresa

Publication type:

Article