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

Results: 27

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
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
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
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
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
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
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
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
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