Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 7

Results: 16

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 742, doi. 10.1038/ejhg.2011.272

By:

Handyside, Alan H;
Montag, Markus;
Magli, M Cristina;
Repping, Sjoerd;
Harper, Joyce;
Schmutzler, Andreas;
Vesela, Katerina;
Gianaroli, Luca;
Geraedts, Joep

Publication type:

Article

Legislation on direct-to-consumer genetic testing in seven European countries.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 715, doi. 10.1038/ejhg.2011.278

By:

Borry, Pascal;
van Hellemondt, Rachel E;
Sprumont, Dominique;
Jales, Camilla Fittipaldi Duarte;
Rial-Sebbag, Emmanuelle;
Spranger, Tade Matthias;
Curren, Liam;
Kaye, Jane;
Nys, Herman;
Howard, Heidi

Publication type:

Article

Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 722, doi. 10.1038/ejhg.2012.5

By:

Huijgen, Roeland;
Homsma, Sietske JM;
Hutten, Barbara A;
Kindt, Iris;
Vissers, Maud N;
Kastelein, John JP;
van Rijckevorsel, Jan LA

Publication type:

Article

1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 801, doi. 10.1038/ejhg.2012.3

By:

Huang, Jie;
Ellinghaus, David;
Franke, Andre;
Howie, Bryan;
Li, Yun

Publication type:

Article

Association between survivin −31G>C promoter polymorphism and cancer risk: a meta-analysis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 790, doi. 10.1038/ejhg.2011.276

By:

Wang, Xiefeng;
Huang, Lili;
Xu, Yanjie;
Shi, Zhumei;
Wang, Yingyi;
Zhang, Junxia;
Wang, Xirui;
Cao, Lei;
Luo, Hui;
Chen, Jiawei;
Liu, Ning;
Yin, Yongmei;
You, Yongping

Publication type:

Article

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 806, doi. 10.1038/ejhg.2012.9

By:

Field, Michael;
Scheffer, Ingrid E;
Gill, Deepak;
Wilson, Meredith;
Christie, Louise;
Shaw, Marie;
Gardner, Alison;
Glubb, Georgie;
Hobson, Lynne;
Corbett, Mark;
Friend, Kathryn;
Willis-Owen, Saffron;
Gecz, Jozef

Publication type:

Article

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 769, doi. 10.1038/ejhg.2012.2

By:

Bowman, Michael;
Oldridge, Michael;
Archer, Caroline;
O'Rourke, Anthony;
McParland, Joanna;
Brekelmans, Roel;
Seller, Anneke;
Lester, Tracy

Publication type:

Article

Discovery of variants unmasked by hemizygous deletions.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263

By:

Hochstenbach, Ron;
Poot, Martin;
Nijman, Isaac J;
Renkens, Ivo;
Duran, Karen J;
van'T Slot, Ruben;
van Binsbergen, Ellen;
van der Zwaag, Bert;
Vogel, Maartje J;
Terhal, Paulien A;
Ploos van Amstel, Hans Kristian;
Kloosterman, Wigard P;
Cuppen, Edwin

Publication type:

Article

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 762, doi. 10.1038/ejhg.2011.277

By:

Gausachs, Mireia;
Mur, Pilar;
Corral, Julieta;
Pineda, Marta;
González, Sara;
Benito, Llúcia;
Menéndez, Mireia;
Espinàs, Josep Alfons;
Brunet, Joan;
Iniesta, María Dolores;
Gruber, Stephen B;
Lázaro, Conxi;
Blanco, Ignacio;
Capellá, Gabriel

Publication type:

Article

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 796, doi. 10.1038/ejhg.2011.271

By:

Hamdan, Fadi F;
Saitsu, Hirotomo;
Nishiyama, Kiyomi;
Gauthier, Julie;
Dobrzeniecka, Sylvia;
Spiegelman, Dan;
Lacaille, Jean-Claude;
Décarie, Jean-Claude;
Matsumoto, Naomichi;
Rouleau, Guy A;
Michaud, Jacques L

Publication type:

Article

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6

By:

Rosenfeld, Jill A;
Traylor, Ryan N;
Schaefer, G Bradley;
McPherson, Elizabeth W;
Ballif, Blake C;
Klopocki, Eva;
Mundlos, Stefan;
Shaffer, Lisa G;
Aylsworth, Arthur S

Publication type:

Article

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 734, doi. 10.1038/ejhg.2012.7

By:

Russo, Silvia;
Masciadri, Maura;
Gervasini, Cristina;
Azzollini, Jacopo;
Cereda, Anna;
Zampino, Giuseppe;
Haas, Oskar;
Scarano, Gioacchino;
Di Rocco, Maja;
Finelli, Palma;
Tenconi, Romano;
Selicorni, Angelo;
Larizza, Lidia

Publication type:

Article

Low prevalence of lactase persistence in Neolithic South-West Europe.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 778, doi. 10.1038/ejhg.2011.254

By:

Plantinga, Theo S;
Alonso, Santos;
Izagirre, Neskuts;
Hervella, Montserrat;
Fregel, Rosa;
van der Meer, Jos WM;
Netea, Mihai G;
de la Rúa, Concepcion

Publication type:

Article

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 729, doi. 10.1038/ejhg.2012.1

By:

Koolen, David A;
Dupont, Juliette;
de Leeuw, Nicole;
Vissers, Lisenka ELM;
van den Heuvel, Simone PA;
Bradbury, Alyson;
Steer, James;
de Brouwer, Arjan PM;
ten Kate, Leo P;
Nillesen, Willy M;
de Vries, Bert BA;
Parker, Michael J

Publication type:

Article

A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 783, doi. 10.1038/ejhg.2012.4

By:

Lövkvist, Håkan;
Olsson, Sandra;
Höglund, Peter;
Melander, Olle;
Jern, Christina;
Sjögren, Marketa;
Engström, Gunnar;
Smith, J Gustav;
Hedblad, Bo;
Andsberg, Gunnar;
Delavaran, Hossein;
Jood, Katarina;
Kristoffersson, Ulf;
Luthman, Holger;
Norrving, Bo;
Lindgren, Arne

Publication type:

Article

Low prevalence of lactase persistence in Neolithic South-West Europe.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 810, doi. 10.1038/ejhg.2012.54

By:

Plantinga, Theo S;
Alonso, Santos;
Izagirre, Neskuts;
Hervella, Montserrat;
Fregel, Rosa;
van der Meer, Jos W M;
Netea, Mihai G;
de la Rúa, Concepcion

Publication type:

Article