Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 12

Results: 22

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86

By:

Goubau, Christophe;
Devriendt, Koen;
Van der Aa, Nathalie;
Crepel, An;
Wieczorek, Dagmar;
Kleefstra, Tjitske;
Willemsen, Marjolein H;
Rauch, Anita;
Tzschach, Andreas;
de Ravel, Thomy;
Leemans, Peter;
Van Geet, Chris;
Buyse, Gunnar;
Freson, Kathleen

Publication type:

Article

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50

By:

Drüsedau, Marion;
Dreesen, Jos C;
Derks-Smeets, Inge;
Coonen, Edith;
van Golde, Ron;
van Echten-Arends, Jannie;
Kastrop, Peter M M;
Blok, Marinus J;
Gómez-García, Encarna;
Geraedts, Joep P;
Smeets, Hubert J;
de Die-Smulders, Christine E;
Paulussen, Aimée D

Publication type:

Article

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57

By:

von Kanel, Thomas;
Stanke, Frauke;
Weber, Melanie;
Schaller, Andre;
Racine, Julien;
Kraemer, Richard;
Chanson, Marc;
Tümmler, Burkhard;
Gallati, Sabina

Publication type:

Article

An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1389, doi. 10.1038/ejhg.2013.53

By:

Ross, Jason;
Lockett, Linda;
Brookes, Diana;
Tabor, Bruce;
Duesing, Konsta;
Buckley, Michael;
Lockett, Trevor;
Molloy, Peter;
Macrae, Finlay;
Young, Graeme;
Blanco, Ignacio;
Capella, Gabriel;
Hannan, Garry N

Publication type:

Article

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1377, doi. 10.1038/ejhg.2013.58

By:

Hilger, Alina;
Schramm, Charlotte;
Pennimpede, Tracie;
Wittler, Lars;
Dworschak, Gabriel C;
Bartels, Enrika;
Engels, Hartmut;
Zink, Alexander M;
Degenhardt, Franziska;
Müller, Annette M;
Schmiedeke, Eberhard;
Grasshoff-Derr, Sabine;
Märzheuser, Stefanie;
Hosie, Stuart;
Holland-Cunz, Stefan;
Wijers, Charlotte HW;
Marcelis, Carlo LM;
van Rooij, Iris ALM;
Hildebrandt, Friedhelm;
Herrmann, Bernhard G

Publication type:

Article

Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1369, doi. 10.1038/ejhg.2013.68

By:

Aury-Landas, Juliette;
Bougeard, Gaëlle;
Castel, Hélène;
Hernandez-Vargas, Hector;
Drouet, Aurélie;
Latouche, Jean-Baptiste;
Schouft, Marie-Thérèse;
Férec, Claude;
Leroux, Dominique;
Lasset, Christine;
Coupier, Isabelle;
Caron, Olivier;
Herceg, Zdenko;
Frebourg, Thierry;
Flaman, Jean-Michel

Publication type:

Article

Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1423, doi. 10.1038/ejhg.2013.51

By:

Poetsch, Micaela;
Wiegand, Aline;
Harder, Melanie;
Blöhm, Rowena;
Rakotomavo, Noel;
Freitag-Wolf, Sandra;
von Wurmb-Schwark, Nicole

Publication type:

Article

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22

By:

Bonnet, Céline;
Ali Khan, Asma;
Bresso, Emmanuel;
Vigouroux, Charlène;
Béri, Mylène;
Lejczak, Sarah;
Deemer, Bénédicte;
Andrieux, Joris;
Philippe, Christophe;
Moncla, Anne;
Giurgea, Irina;
Devignes, Marie-Dominique;
Leheup, Bruno;
Jonveaux, Philippe

Publication type:

Article

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1411, doi. 10.1038/ejhg.2013.60

By:

Kanduri, Chakravarthi;
Ukkola-Vuoti, Liisa;
Oikkonen, Jaana;
Buck, Gemma;
Blancher, Christine;
Raijas, Pirre;
Karma, Kai;
Lähdesmäki, Harri;
Järvelä, Irma

Publication type:

Article

Consulting the community: public expectations and attitudes about genetics research.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1338, doi. 10.1038/ejhg.2013.64

By:

Etchegary, Holly;
Green, Jane;
Dicks, Elizabeth;
Pullman, Daryl;
Street, Catherine;
Parfrey, Patrick

Publication type:

Article

Joint detection of association, imprinting and maternal effects using all children and their parents.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1449, doi. 10.1038/ejhg.2013.49

By:

Han, Miao;
Hu, Yue-Qing;
Lin, Shili

Publication type:

Article

Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1383, doi. 10.1038/ejhg.2013.66

By:

Corso, Giovanni;
Pascale, Valeria;
Flauti, Giuseppe;
Ferrara, Francesco;
Marrelli, Daniele;
Roviello, Franco

Publication type:

Article

A unifying framework for robust association testing, estimation, and genetic model selection using the generalized linear model.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1442, doi. 10.1038/ejhg.2013.62

By:

Loley, Christina;
König, Inke R;
Hothorn, Ludwig;
Ziegler, Andreas

Publication type:

Article

From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1335, doi. 10.1038/ejhg.2013.75

By:

Horan, Martin P;
Gemmell, Neil J;
Wolff, Jonci N

Publication type:

Article

Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1396, doi. 10.1038/ejhg.2013.84

By:

Renault, Nisa K E;
Pritchett, Sonja M;
Howell, Robin E;
Greer, Wenda L;
Sapienza, Carmen;
Ørstavik, Karen Helene;
Hamilton, David C

Publication type:

Article

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1403, doi. 10.1038/ejhg.2013.47

By:

Papasavva, Thessalia;
van IJcken, Wilfred F J;
Kockx, Christel E M;
van den Hout, Mirjam C G N;
Kountouris, Petros;
Kythreotis, Loukas;
Kalogirou, Eleni;
Grosveld, Frank G;
Kleanthous, Marina

Publication type:

Article

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71

By:

Berland, Siren;
Appelbäck, Mia;
Bruland, Ove;
Beygo, Jasmin;
Buiting, Karin;
Mackay, Deborah J G;
Karen Temple, I;
Houge, Gunnar

Publication type:

Article

A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1417, doi. 10.1038/ejhg.2013.63

By:

Davies, Robert W;
Lau, Paulina;
Naing, Thet;
Nikpay, Majid;
Doelle, Heather;
Ellen Harper, Mary;
Dent, Robert;
McPherson, Ruth

Publication type:

Article

Homozygosity analysis in amyotrophic lateral sclerosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1429, doi. 10.1038/ejhg.2013.59

By:

Mok, Kin;
Laaksovirta, Hannu;
Tienari, Pentti J;
Peuralinna, Terhi;
Myllykangas, Liisa;
Chiò, Adriano;
Traynor, Bryan J;
Nalls, Michael A;
Gurunlian, Nicole;
Shatunov, Aleksey;
Restagno, Gabriella;
Mora, Gabriele;
Nigel Leigh, P;
Shaw, Chris E;
Morrison, Karen E;
Shaw, Pamela J;
Al-Chalabi, Ammar;
Hardy, John;
Orrell, Richard W

Publication type:

Article

Secondary variants - in defense of a more fitting term in the incidental findings debate.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1331, doi. 10.1038/ejhg.2013.89

By:

Christenhusz, Gabrielle M;
Devriendt, Koenraad;
Dierickx, Kris

Publication type:

Article

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52

By:

Berry, Vanita;
Gregory-Evans, Cheryl;
Emmett, Warren;
Waseem, Naushin;
Raby, Jacob;
Prescott, DeQuincy;
Moore, Anthony T;
Bhattacharya, Shomi S

Publication type:

Article

Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25

By:

Omoumi, Ardeshir;
Wang, Zihua;
Yeow, Vincent;
Wu-Chou, Yah-Huei;
Chen, Philip K;
Ruczinski, Ingo;
Cheng, Joanne;
Cheah, Felicia S H;
Lee, Caroline G;
Beaty, Terri H;
Chong, Samuel S

Publication type:

Article