Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 6

Results: 25

Whole-genome sequencing in health care.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 580, doi. 10.1038/ejhg.2013.46
By:
- van El, Carla G;
- Cornel, Martina C;
- Borry, Pascal;
- Hastings, Ros J;
- Fellmann, Florence;
- Hodgson, Shirley V;
- Howard, Heidi C;
- Cambon-Thomsen, Anne;
- Knoppers, Bartha M;
- Meijers-Heijboer, Hanne;
- Scheffer, Hans;
- Tranebjaerg, Lisbeth;
- Dondorp, Wybo;
- de Wert, Guido M W R
Publication type:
Article
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 620, doi. 10.1038/ejhg.2012.219
By:
- Wiśniowiecka-Kowalnik, Barbara;
- Kastory-Bronowska, Monika;
- Bartnik, Magdalena;
- Derwińska, Katarzyna;
- Dymczak-Domini, Wanda;
- Szumbarska, Dorota;
- Ziemka, Ewa;
- Szczałuba, Krzysztof;
- Sykulski, Maciej;
- Gambin, Tomasz;
- Gambin, Anna;
- Shaw, Chad A;
- Mazurczak, Tadeusz;
- Obersztyn, Ewa;
- Bocian, Ewa;
- Stankiewicz, Paweł
Publication type:
Article
Clinical utility gene card for: osteogenesis imperfecta.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.210
By:
- van Dijk, Fleur S;
- Dalgleish, Raymond;
- Malfait, Fransiska;
- Maugeri, Alessandra;
- Rusinska, Agnieszka;
- Semler, Oliver;
- Symoens, Sofie;
- Pals, Gerard
Publication type:
Article
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 687, doi. 10.1038/ejhg.2012.225
By:
- Addis, Maria;
- Meloni, Cristiana;
- Tosetto, Enrica;
- Ceol, Monica;
- Cristofaro, Rosalba;
- Melis, Maria Antonietta;
- Vercelloni, Paolo;
- Del Prete, Dorella;
- Marra, Giuseppina;
- Anglani, Franca
Publication type:
Article
How can ethics relate to science? The case of stem cell research.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 591, doi. 10.1038/ejhg.2012.232
By:
- Carvalho, Ana Sofia;
- Ramalho-Santos, João
Publication type:
Article
Prioritising risk pathways of complex human diseases based on functional profiling.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 666, doi. 10.1038/ejhg.2012.218
By:
- Li, Yan;
- Huang, Teng;
- Xiao, Yun;
- Ning, Shangwei;
- Wang, Peng;
- Wang, Qianghu;
- Chen, Xin;
- Chaohan, Xu;
- Sun, Donglin;
- Li, Xia;
- Li, Yixue
Publication type:
Article
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 659, doi. 10.1038/ejhg.2012.229
By:
- Esko, Tõnu;
- Mezzavilla, Massimo;
- Nelis, Mari;
- Borel, Christelle;
- Debniak, Tadeusz;
- Jakkula, Eveliina;
- Julia, Antonio;
- Karachanak, Sena;
- Khrunin, Andrey;
- Kisfali, Peter;
- Krulisova, Veronika;
- Aušrelé Kučinskiené, Zita;
- Rehnström, Karola;
- Traglia, Michela;
- Nikitina-Zake, Liene;
- Zimprich, Fritz;
- Antonarakis, Stylianos E;
- Estivill, Xavier;
- Glavač, Damjan;
- Gut, Ivo
Publication type:
Article
Clinical utility gene card for: familial polycythaemia vera.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.216
By:
- Hussein, Kais;
- Granot, Galit;
- Shpilberg, Ofer;
- Kreipe, Hans
Publication type:
Article
SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 673, doi. 10.1038/ejhg.2012.215
By:
- Meirelles, Osorio D;
- Ding, Jun;
- Tanaka, Toshiko;
- Sanna, Serena;
- Yang, Hsih-Te;
- Dudekula, Dawood B;
- Cucca, Francesco;
- Ferrucci, Luigi;
- Abecasis, Goncalo;
- Schlessinger, David
Publication type:
Article
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 637, doi. 10.1038/ejhg.2012.226
By:
- Koutsopoulos, Olga S;
- Kretz, Christine;
- Weller, Claudia M;
- Roux, Aurelien;
- Mojzisova, Halina;
- Böhm, Johann;
- Koch, Catherine;
- Toussaint, Anne;
- Heckel, Emilie;
- Stemkens, Daphne;
- ter Horst, Simone A J;
- Thibault, Christelle;
- Koch, Muriel;
- Mehdi, Syed Q;
- Bijlsma, Emilia K;
- Mandel, Jean-Louis;
- Vermot, Julien;
- Laporte, Jocelyn
Publication type:
Article
Clinical utility gene card for: Pseudohypoparathyroidism.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211
By:
- Mantovani, Giovanna;
- Linglart, Agnes;
- Garin, Intza;
- Silve, Caroline;
- Elli, Francesca M;
- de Nanclares, Guiomar Perez
Publication type:
Article
Functional characterization of desmin mutant p.P419S.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 589, doi. 10.1038/ejhg.2012.212
By:
- Brodehl, Andreas;
- Dieding, Mareike;
- Cakar, Hamdin;
- Klauke, Bärbel;
- Walhorn, Volker;
- Gummert, Jan;
- Anselmetti, Dario;
- Milting, Hendrik
Publication type:
Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
By:
- Leroy, Camille;
- Landais, Emilie;
- Briault, Sylvain;
- David, Albert;
- Tassy, Olivier;
- Gruchy, Nicolas;
- Delobel, Bruno;
- Grégoire, Marie-José;
- Leheup, Bruno;
- Taine, Laurence;
- Lacombe, Didier;
- Delrue, Marie-Ange;
- Toutain, Annick;
- Paubel, Agathe;
- Mugneret, Francine;
- Thauvin-Robinet, Christel;
- Arpin, Stéphanie;
- Le Caignec, Cedric;
- Jonveaux, Philippe;
- Beri, Mylène
Publication type:
Article
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 643, doi. 10.1038/ejhg.2012.222
By:
- Schreml, Julia;
- Riessland, Markus;
- Paterno, Mario;
- Garbes, Lutz;
- Roßbach, Kristina;
- Ackermann, Bastian;
- Krämer, Jan;
- Somers, Eilidh;
- Parson, Simon H;
- Heller, Raoul;
- Berkessel, Albrecht;
- Sterner-Kock, Anja;
- Wirth, Brunhilde
Publication type:
Article
David Cox, a counsellor of geneticists.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 579, doi. 10.1038/ejhg.2013.70
By:
- B van Ommen, GertJan
Publication type:
Article
The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 653, doi. 10.1038/ejhg.2012.223
By:
- Becker, Noémie SA;
- Verdu, Paul;
- Georges, Myriam;
- Duquesnoy, Philippe;
- Froment, Alain;
- Amselem, Serge;
- Le Bouc, Yves;
- Heyer, Evelyne
Publication type:
Article
The next controversy in genetic testing: clinical data as trade secrets?
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 585, doi. 10.1038/ejhg.2012.217
By:
- Cook-Deegan, Robert;
- Conley, John M;
- Evans, James P;
- Vorhaus, Daniel
Publication type:
Article
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 613, doi. 10.1038/ejhg.2012.224
By:
- Marconi, Caterina;
- Brunamonti Binello, Paolo;
- Badiali, Giovanni;
- Caci, Emanuela;
- Cusano, Roberto;
- Garibaldi, Joseph;
- Pippucci, Tommaso;
- Merlini, Alberto;
- Marchetti, Claudio;
- Rhoden, Kerry J;
- Galietta, Luis J V;
- Lalatta, Faustina;
- Balbi, Paolo;
- Seri, Marco
Publication type:
Article
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
By:
- Tiziano, Francesco D;
- Lomastro, Rosa;
- Di Pietro, Lorena;
- Barbara Pasanisi, Maria;
- Fiori, Stefania;
- Angelozzi, Carla;
- Abiusi, Emanuela;
- Angelini, Corrado;
- Sorarù, Gianni;
- Gaiani, Alessandra;
- Mongini, Tiziana;
- Vercelli, Liliana;
- Vasco, Gessica;
- Vita, Giuseppe;
- Luca Vita, Gian;
- Messina, Sonia;
- Politano, Luisa;
- Passamano, Luigia;
- Di Gregorio, Grazia;
- Montomoli, Cristina
Publication type:
Article
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 626, doi. 10.1038/ejhg.2012.231
By:
- Vinther-Jensen, Tua;
- Ek, Jakob;
- Duno, Morten;
- Skovby, Flemming;
- Hjermind, Lena E;
- Nielsen, Jørgen E;
- Nielsen, Troels Tolstrup
Publication type:
Article
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 695, doi. 10.1038/ejhg.2012.241
By:
- Ullmann, Urielle;
- Unuane, David;
- Velkeniers, Brigitte;
- Lissens, Willy;
- Wuyts, Wim;
- Bonduelle, Maryse
Publication type:
Article
Statistical tests for detecting associations with groups of genetic variants: generalization, evaluation, and implementation.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 680, doi. 10.1038/ejhg.2012.220
By:
- Ferguson, John;
- Wheeler, William;
- Fu, YiPing;
- Prokunina-Olsson, Ludmila;
- Zhao, Hongyu;
- Sampson, Joshua
Publication type:
Article
A tiered-layered-staged model for informed consent in personal genome testing.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 596, doi. 10.1038/ejhg.2012.237
By:
- Bunnik, Eline M;
- Janssens, A Cecile J W;
- Schermer, Maartje H N
Publication type:
Article
CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 691, doi. 10.1038/ejhg.2012.234
By:
- Kolbe, Ernst-Wolfgang;
- Tamm, Stephanie;
- Hedtfeld, Silke;
- Becker, Tim;
- Tümmler, Burkhard;
- Stanke, Frauke
Publication type:
Article
Reply to Brodehl et al.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 590, doi. 10.1038/ejhg.2012.214
By:
- Hedberg, Carola;
- Melberg, Atle;
- Kuhl, Angelika;
- Jenne, Dieter;
- Oldfors, Anders
Publication type:
Article