Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 11

Results: 27

Citizens' perspectives on personalized medicine: a qualitative public deliberation study.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1197, doi. 10.1038/ejhg.2012.300

By:

Bombard, Yvonne;
Abelson, Julia;
Simeonov, Dorina;
Gauvin, Francois-Pierre

Publication type:

Article

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1272, doi. 10.1038/ejhg.2013.32

By:

McFarland, Karen N;
Liu, Jilin;
Landrian, Ivette;
Gao, Rui;
Sarkar, Partha S;
Raskin, Salmo;
Moscovich, Mariana;
Gatto, Emilia M;
Teive, Hélio A G;
Ochoa, Adriana;
Rasmussen, Astrid;
Ashizawa, Tetsuo

Publication type:

Article

Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1286, doi. 10.1038/ejhg.2013.38

By:

Barzan, David;
Veldwijk, Marlon R;
Herskind, Carsten;
Li, Yang;
Zhang, Bo;
Sperk, Elena;
Du, Wei-Dong;
Zhang, Xue-Jun;
Wenz, Frederik

Publication type:

Article

Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1293, doi. 10.1038/ejhg.2013.26

By:

Gabrielsen, Maiken E;
Romundstad, Pål;
Langhammer, Arnulf;
Krokan, Hans E;
Skorpen, Frank

Publication type:

Article

MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1300, doi. 10.1038/ejhg.2013.33

By:

Mäkinen, Netta;
Vahteristo, Pia;
Kämpjärvi, Kati;
Arola, Johanna;
Bützow, Ralf;
Aaltonen, Lauri A

Publication type:

Article

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1260, doi. 10.1038/ejhg.2013.37

By:

Chiang, Huei-Hsin;
Forsell, Charlotte;
Lilius, Lena;
Öijerstedt, Linn;
Thordardottir, Steinunn;
Shanmugarajan, Krishnan;
Westerlund, Marie;
Nennesmo, Inger;
Thonberg, Håkan;
Graff, Caroline

Publication type:

Article

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1219, doi. 10.1038/ejhg.2013.40

By:

Weemaes, Corry MR;
van Tol, Maarten JD;
Wang, Jun;
van Ostaijen-ten Dam, Monique M;
van Eggermond, Marja CJA;
Thijssen, Peter E;
Aytekin, Caner;
Brunetti-Pierri, Nicola;
van der Burg, Mirjam;
Graham Davies, E;
Ferster, Alina;
Furthner, Dieter;
Gimelli, Giorgio;
Gennery, Andy;
Kloeckener-Gruissem, Barbara;
Meyn, Stephan;
Powell, Cynthia;
Reisli, Ismail;
Schuetz, Catharina;
Schulz, Ansgar

Publication type:

Article

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31

By:

Scoto, Mariacristina;
Cullup, Thomas;
Cirak, Sebahattin;
Yau, Shu;
Manzur, Adnan Y;
Feng, Lucy;
Jacques, Thomas S;
Anderson, Glenn;
Abbs, Stephen;
Sewry, Caroline;
Jungbluth, Heinz;
Muntoni, Francesco

Publication type:

Article

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27

By:

de Bot, Susanne T;
Burggraaff, Rogier C;
Herkert, Johanna C;
Schelhaas, Helenius J;
Post, Bart;
Diekstra, Adinda;
van Vliet, Reinout O;
van der Knaap, Marjo S;
Kamsteeg, Erik-Jan;
Scheffer, Hans;
van de Warrenburg, Bart P;
Verschuuren-Bemelmans, Corien C;
Kremer, Hubertus PH

Publication type:

Article

Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1202, doi. 10.1038/ejhg.2013.36

By:

Severin, Franziska;
Schmidtke, Jörg;
Mühlbacher, Axel;
Rogowski, Wolf H

Publication type:

Article

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23

By:

Jonsson, Frida;
Burstedt, Marie S;
Sandgren, Ola;
Norberg, Anna;
Golovleva, Irina

Publication type:

Article

Population structure, migration, and diversifying selection in the Netherlands.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1277, doi. 10.1038/ejhg.2013.48

By:

Abdellaoui, Abdel;
Hottenga, Jouke-Jan;
Knijff, Peter de;
Nivard, Michel G;
Xiao, Xiangjun;
Scheet, Paul;
Brooks, Andrew;
Ehli, Erik A;
Hu, Yueshan;
Davies, Gareth E;
Hudziak, James J;
Sullivan, Patrick F;
van Beijsterveldt, Toos;
Willemsen, Gonneke;
de Geus, Eco J;
Penninx, Brenda W J H;
Boomsma, Dorret I

Publication type:

Article

Clinical utility gene card for: Achromatopsia - update 2013.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.44

By:

Kohl, Susanne;
Hamel, Christian

Publication type:

Article

Understanding the impact of genetic testing for inherited retinal dystrophy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1209, doi. 10.1038/ejhg.2013.19

By:

Combs, Ryan;
McAllister, Marion;
Payne, Katherine;
Lowndes, Jo;
Devery, Sophie;
Webster, Andrew R;
Downes, Susan M;
Moore, Anthony T;
Ramsden, Simon;
Black, Graeme;
Hall, Georgina

Publication type:

Article

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1316, doi. 10.1038/ejhg.2013.45

By:

Higashimoto, Ken;
Maeda, Toshiyuki;
Okada, Junichiro;
Ohtsuka, Yasufumi;
Sasaki, Kensaku;
Hirose, Akiko;
Nomiyama, Makoto;
Takayanagi, Toshimitsu;
Fukuzawa, Ryuji;
Yatsuki, Hitomi;
Koide, Kayoko;
Nishioka, Kenichi;
Joh, Keiichiro;
Watanabe, Yoriko;
Yoshiura, Koh-ichiro;
Soejima, Hidenobu

Publication type:

Article

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1226, doi. 10.1038/ejhg.2013.39

By:

Li Mura, Ilena Egle Astrid;
Bauce, Barbara;
Nava, Andrea;
Fanciulli, Manuela;
Vazza, Giovanni;
Mazzotti, Elisa;
Rigato, Ilaria;
De Bortoli, Marzia;
Beffagna, Giorgia;
Lorenzon, Alessandra;
Calore, Martina;
Dazzo, Emanuela;
Nobile, Carlo;
Luisa Mostacciuolo, Maria;
Corrado, Domenico;
Basso, Cristina;
Daliento, Luciano;
Thiene, Gaetano;
Rampazzo, Alessandra

Publication type:

Article

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1240, doi. 10.1038/ejhg.2013.21

By:

Pyo Park, Sung;
Hwan Hong, In;
Tsang, Stephen H;
Chang, Stanley

Publication type:

Article

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42

By:

Witsch, Jens;
Szafranski, Przemyslaw;
Chen, Chun-An;
Immken, LaDonna;
Simpson Patel, Gayle;
Hixson, Patricia;
Cheung, Sau Wai;
Stankiewicz, Pawel;
Schaaf, Christian P

Publication type:

Article

Chromosomal evolution: Molecular cytogenetic evolution of mammals.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1330, doi. 10.1038/ejhg.2013.4

By:

Stoll, Claude

Publication type:

Article

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20

By:

Dias, Cristina;
McDonald, Allison;
Sincan, Murat;
Rupps, Rosemarie;
Markello, Thomas;
Salvarinova, Ramona;
Santos, Rui F;
Menghrajani, Kamal;
Ahaghotu, Chidi;
Sutherland, Darren P;
Fortuno, Edgardo S;
Kollmann, Tobias R;
Demos, Michelle;
Friedman, Jan M;
Speert, David P;
Gahl, William A;
Boerkoel, Cornelius F

Publication type:

Article

Clinical utility gene card for: Alström Syndrome - update 2013.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61

By:

Marshall, Jan D;
Maffei, Pietro;
Beck, Sebastian;
Barrett, Timothy G;
Paisey, Richard;
Naggert, Jürgen K

Publication type:

Article

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1325, doi. 10.1038/ejhg.2013.83

By:

Hoefsloot, Lies H;
Roux, Anne-Françoise;
Bitner-Glindzicz, Maria

Publication type:

Article

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1253, doi. 10.1038/ejhg.2013.24

By:

Mégarbané, André;
Noguier, Florian;
Stora, Samantha;
Manchon, Laurent;
Mircher, Clotilde;
Bruno, Roman;
Dorison, Nathalie;
Pierrat, Fabien;
Rethoré, Marie-Odile;
Trentin, Bernadette;
Ravel, Aimé;
Morent, Marine;
Lefranc, Gerard;
Piquemal, David

Publication type:

Article

Genetics of eye colours in different rural populations on the Silk Road.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1320, doi. 10.1038/ejhg.2013.41

By:

Ulivi, Sheila;
Mezzavilla, Massimo;
Gasparini, Paolo

Publication type:

Article

Controlling complexity: the clinical relevance of mouse complex genetics.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1191, doi. 10.1038/ejhg.2013.79

By:

Schughart, Klaus;
Libert, Claude;
Kas, Martien J

Publication type:

Article

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1308, doi. 10.1038/ejhg.2013.43

By:

Gialluisi, Alessandro;
Incollu, Simona;
Pippucci, Tommaso;
Lepori, Maria Barbara;
Zappu, Antonietta;
Loudianos, Georgios;
Romeo, Giovanni

Publication type:

Article

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1214, doi. 10.1038/ejhg.2013.29

By:

Gonzalez, Michael;
Nampoothiri, Sheela;
Kornblum, Cornelia;
Oteyza, Andrés Caballero;
Walter, Jochen;
Konidari, Ioanna;
Hulme, William;
Speziani, Fiorella;
Schöls, Ludger;
Züchner, Stephan;
Schüle, Rebecca

Publication type:

Article