Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 8

Results: 22

On two Jewish clades in mitochondrial DNA.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 993, doi. 10.1038/ejhg.2014.231

By:

Bedford, Felice L;
Yacobi, Doron

Publication type:

Article

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.257

By:

Witsch-Baumgartner, Martina;
Touitou, Isabelle

Publication type:

Article

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 996, doi. 10.1038/ejhg.2015.33

By:

Benjamin, Caroline;
Houghton, Catherine;
Foo, Claire;
Edgar, Chris;
Mannion, Gail;
Birch, Jan;
Ellis, Ian;
Weber, Astrid

Publication type:

Article

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239

By:

Barthélémy, Florian;
Navarro, Claire;
Fayek, Racha;
Da Silva, Nathalie;
Roll, Patrice;
Sigaudy, Sabine;
Oshima, Junko;
Bonne, Gisèle;
Papadopoulou-Legbelou, Kyriaki;
Evangeliou, Athanasios E;
Spilioti, Martha;
Lemerrer, Martine;
Wevers, Ron A;
Morava, Eva;
Robaglia-Schlupp, Andrée;
Lévy, Nicolas;
Bartoli, Marc;
De Sandre-Giovannoli, Annachiara

Publication type:

Article

Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1100, doi. 10.1038/ejhg.2014.244

By:

Plaza-Izurieta, Leticia;
Fernandez-Jimenez, Nora;
Irastorza, Iñaki;
Jauregi-Miguel, Amaia;
Romero-Garmendia, Irati;
Vitoria, Juan Carlos;
Bilbao, Jose Ramon

Publication type:

Article

Identification of schizophrenia-associated loci by combining DNA methylation and gene expression data from whole blood.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1106, doi. 10.1038/ejhg.2014.245

By:

van Eijk, Kristel R;
de Jong, Simone;
Strengman, Eric;
Buizer-Voskamp, Jacobine E;
Kahn, René S;
Boks, Marco P;
Horvath, Steve;
Ophoff, Roel A

Publication type:

Article

Duplicated copy of CHRNA7 increases risk and worsens prognosis of COPD and lung cancer.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1019, doi. 10.1038/ejhg.2014.229

By:

Yang, Lei;
Lu, Xiaoxiao;
Qiu, Fuman;
Fang, Wenxiang;
Zhang, Lisha;
Huang, Dongsheng;
Xie, Chenli;
Zhong, Nanshan;
Ran, Pixin;
Zhou, Yifeng;
Lu, Jiachun

Publication type:

Article

Clinical utility gene card for: Zellweger syndrome spectrum.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.250

By:

Rosewich, Hendrik;
Waterham, Hans;
Poll-The, Bwee Tien;
Ohlenbusch, Andreas;
Gärtner, Jutta

Publication type:

Article

Reply to letter from Felice L. Bedford and Doron Yacobi.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 994, doi. 10.1038/ejhg.2014.232

By:

Nogueiro, Inês;
Teixeira, João;
Amorim, António;
Gusmão, Leonor;
Alvarez, Luis

Publication type:

Article

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1112, doi. 10.1038/ejhg.2015.129

By:

Lindahl, Katarina;
Åström, Eva;
Rubin, Carl-Johan;
Grigelioniene, Giedre;
Malmgren, Barbro;
Ljunggren, Östen;
Kindmark, Andreas

Publication type:

Article

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1004, doi. 10.1038/ejhg.2014.238

By:

Skirton, Heather;
Goldsmith, Lesley;
Chitty, Lyn S

Publication type:

Article

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1033, doi. 10.1038/ejhg.2015.45

By:

Peca, Donatella;
Boldrini, Renata;
Johannson, Jan;
Shieh, Joseph T;
Citti, Arianna;
Petrini, Stefania;
Salerno, Teresa;
Cazzato, Salvatore;
Testa, Raffaele;
Messina, Francesco;
Onofri, Alfredo;
Cenacchi, Giovanna;
Westermark, Per;
Ullman, Nicola;
Cogo, Paola;
Cutrera, Renato;
Danhaive, Olivier

Publication type:

Article

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1042, doi. 10.1038/ejhg.2015.81

By:

Lindahl, Katarina;
Åström, Eva;
Rubin, Carl-Johan;
Grigelioniene, Giedre;
Malmgren, Barbro;
Ljunggren, Östen;
Kindmark, Andreas

Publication type:

Article

Novel genomic signals of recent selection in an Ethiopian population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1085, doi. 10.1038/ejhg.2014.233

By:

Tekola-Ayele, Fasil;
Adeyemo, Adebowale;
Chen, Guanjie;
Hailu, Elena;
Aseffa, Abraham;
Davey, Gail;
Newport, Melanie J;
Rotimi, Charles N

Publication type:

Article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230

By:

El Khattabi, Laïla;
Guimiot, Fabien;
Pipiras, Eva;
Andrieux, Joris;
Baumann, Clarisse;
Bouquillon, Sonia;
Delezoide, Anne-Lise;
Delobel, Bruno;
Demurger, Florence;
Dessuant, Hélène;
Drunat, Séverine;
Dubourg, Christelle;
Dupont, Céline;
Faivre, Laurence;
Holder-Espinasse, Muriel;
Jaillard, Sylvie;
Journel, Hubert;
Lyonnet, Stanislas;
Malan, Valérie;
Masurel, Alice

Publication type:

Article

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243

By:

Pinna, Valentina;
Lanari, Valentina;
Daniele, Paola;
Consoli, Federica;
Agolini, Emanuele;
Margiotti, Katia;
Bottillo, Irene;
Torrente, Isabella;
Bruselles, Alessandro;
Fusilli, Caterina;
Ficcadenti, Anna;
Bargiacchi, Sara;
Trevisson, Eva;
Forzan, Monica;
Giustini, Sandra;
Leoni, Chiara;
Zampino, Giuseppe;
Cristina Digilio, Maria;
Dallapiccola, Bruno;
Clementi, Maurizio

Publication type:

Article

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1025, doi. 10.1038/ejhg.2014.237

By:

Vetro, Annalisa;
Dehghani, Mohammad Reza;
Kraoua, Lilia;
Giorda, Roberto;
Beri, Silvana;
Cardarelli, Laura;
Merico, Maurizio;
Manolakos, Emmanouil;
Parada-Bustamante, Alexis;
Castro, Andrea;
Radi, Orietta;
Camerino, Giovanna;
Brusco, Alfredo;
Sabaghian, Marjan;
Sofocleous, Crystalena;
Forzano, Francesca;
Palumbo, Pietro;
Palumbo, Orazio;
Calvano, Savino;
Zelante, Leopoldo

Publication type:

Article

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1072, doi. 10.1038/ejhg.2014.240

By:

Sanches, João Miguel;
Figueiredo, Joana;
Fonseca, Martina;
Durães, Cecília;
Melo, Soraia;
Esménio, Sofia;
Seruca, Raquel

Publication type:

Article

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1062, doi. 10.1038/ejhg.2014.234

By:

Kagami, Masayo;
Mizuno, Seiji;
Matsubara, Keiko;
Nakabayashi, Kazuhiko;
Sano, Shinichiro;
Fuke, Tomoko;
Fukami, Maki;
Ogata, Tsutomu

Publication type:

Article

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1112, doi. 10.1038/ejhg.2015.82

By:

Benjamin, Caroline;
Houghton, Catherine;
Foo, Claire;
Edgar, Chris;
Mannion, Gail;
Birch, Jan;
Ellis, Ian;
Weber, Astrid

Publication type:

Article

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1080, doi. 10.1038/ejhg.2014.242

By:

Elsayed, Fadwa A;
Kets, C Marleen;
Ruano, Dina;
van den Akker, Brendy;
Mensenkamp, Arjen R;
Schrumpf, Melanie;
Nielsen, Maartje;
Wijnen, Juul T;
Tops, Carli M;
Ligtenberg, Marjolijn J;
Vasen, Hans FA;
Hes, Frederik J;
Morreau, Hans;
van Wezel, Tom

Publication type:

Article

Genotyping of geographically diverse Druze trios reveals substructure and a recent bottleneck.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1093, doi. 10.1038/ejhg.2014.218

By:

Zidan, Jamal;
Ben-Avraham, Dan;
Carmi, Shai;
Maray, Taiseer;
Friedman, Eitan;
Atzmon, Gil

Publication type:

Article