Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 7

Results: 15

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 922, doi. 10.1038/ejhg.2014.211

By:

Wessels, Marja W;
Herkert, Johanna C;
Frohn-Mulder, Ingrid M;
Dalinghaus, Michiel;
van den Wijngaard, Arthur;
de Krijger, Ronald R;
Michels, Michelle;
de Coo, Irenaeus FM;
Hoedemaekers, Yvonne M;
Dooijes, Dennis

Publication type:

Article

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205

By:

Paumard-Hernández, Beatriz;
Berges-Soria, Julia;
Barroso, Eva;
Rivera-Pedroza, Carlos I;
Pérez-Carrizosa, Virginia;
Benito-Sanz, Sara;
López-Messa, Eva;
Santos, Fernando;
García-Recuero, Ignacio I;
Romance, Ana;
Ballesta-Martínez, Juliana María;
López-González, Vanesa;
Campos-Barros, Ángel;
Cruz, Jaime;
Guillén-Navarro, Encarna;
Sánchez del Pozo, Jaime;
Lapunzina, Pablo;
García-Miñaur, Sixto;
Heath, Karen E

Publication type:

Article

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 935, doi. 10.1038/ejhg.2014.214

By:

Oláhová, Monika;
Haack, Tobias B;
Alston, Charlotte L;
Houghton, Jessica AC;
He, Langping;
Morris, Andrew AM;
Brown, Garry K;
McFarland, Robert;
Chrzanowska-Lightowlers, Zofia MA;
Lightowlers, Robert N;
Prokisch, Holger;
Taylor, Robert W

Publication type:

Article

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213

By:

Courcet, Jean- Benoît;
Elalaoui, Siham Chafai;
Duplomb, Laurence;
Tajir, Mariam;
Rivière, Jean-Baptiste;
Thevenon, Julien;
Gigot, Nadège;
Marle, Nathalie;
Aral, Bernard;
Duffourd, Yannis;
Sarasin, Alain;
Naim, Valeria;
Courcet-Degrolard, Emilie;
Aubriot-Lorton, Marie- Hélène;
Martin, Laurent;
Abrid, Jamal Eddin;
Thauvin, Christel;
Sefiani, Abdelaziz;
Vabres, Pierre;
Faivre, Laurence

Publication type:

Article

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 963, doi. 10.1038/ejhg.2014.220

By:

Paganini, Irene;
Chang, Vivian Y;
Capone, Gabriele L;
Vitte, Jeremie;
Benelli, Matteo;
Barbetti, Lorenzo;
Sestini, Roberta;
Trevisson, Eva;
Hulsebos, Theo JM;
Giovannini, Marco;
Nelson, Stanley F;
Papi, Laura

Publication type:

Article

C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 949, doi. 10.1038/ejhg.2014.219

By:

Yamamoto-Ibusuki, Mutsuko;
Yamamoto, Yutaka;
Fujiwara, Saori;
Sueta, Aiko;
Yamamoto, Satoko;
Hayashi, Mitsuhiro;
Tomiguchi, Mai;
Takeshita, Takashi;
Iwase, Hirotaka

Publication type:

Article

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 990, doi. 10.1038/ejhg.2014.236

By:

Smith, Amanda;
Bulman, Dennis E;
Goldsmith, Claire;
Bareke, Eric;
Majewski, Jacek;
Boycott, Kym M;
Nikkel, Sarah M

Publication type:

Article

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 901, doi. 10.1038/ejhg.2014.222

By:

Capalbo, Antonio;
Treff, Nathan R;
Cimadomo, Danilo;
Tao, Xin;
Upham, Kathleen;
Ubaldi, Filippo Maria;
Rienzi, Laura;
Scott, Richard T

Publication type:

Article

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 975, doi. 10.1038/ejhg.2014.216

By:

Pistis, Giorgio;
Porcu, Eleonora;
Vrieze, Scott I;
Sidore, Carlo;
Steri, Maristella;
Danjou, Fabrice;
Busonero, Fabio;
Mulas, Antonella;
Zoledziewska, Magdalena;
Maschio, Andrea;
Brennan, Christine;
Lai, Sandra;
Miller, Michael B;
Marcelli, Marco;
Urru, Maria Francesca;
Pitzalis, Maristella;
Lyons, Robert H;
Kang, Hyun M;
Jones, Chris M;
Angius, Andrea

Publication type:

Article

BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 893, doi. 10.1038/ejhg.2014.235

By:

van Ommen, Gert-Jan B;
Törnwall, Outi;
Bréchot, Christian;
Dagher, Georges;
Galli, Joakim;
Hveem, Kristian;
Landegren, Ulf;
Luchinat, Claudio;
Metspalu, Andres;
Nilsson, Cecilia;
Solesvik, Ove V;
Perola, Markus;
Litton, Jan-Eric;
Zatloukal, Kurt

Publication type:

Article

A genetic risk score for hypertension associates with the risk of ischemic stroke in a Swedish case-control study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 969, doi. 10.1038/ejhg.2014.212

By:

Fava, Cristiano;
Sjögren, Marketa;
Olsson, Sandra;
Lövkvist, Håkan;
Jood, Katarina;
Engström, Gunnar;
Hedblad, Bo;
Norrving, Bo;
Jern, Christina;
Lindgren, Arne;
Melander, Olle

Publication type:

Article

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 915, doi. 10.1038/ejhg.2014.217

By:

Szafranski, Przemyslaw;
Golla, Sailaja;
Jin, Weihong;
Fang, Ping;
Hixson, Patricia;
Matalon, Reuben;
Kinney, Daniel;
Bock, Hans-georg;
Craigen, William;
Smith, Janice L;
Bi, Weimin;
Patel, Ankita;
Wai Cheung, Sau;
Bacino, Carlos A;
Stankiewicz, Paweł

Publication type:

Article

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 929, doi. 10.1038/ejhg.2014.223

By:

Nectoux, Juliette;
de Cid, Rafael;
Baulande, Sylvain;
Leturcq, France;
Urtizberea, Jon Andoni;
Penisson-Besnier, Isabelle;
Nadaj-Pakleza, Aleksandra;
Roudaut, Carinne;
Criqui, Audrey;
Orhant, Lucie;
Peyroulan, Delphine;
Ben Yaou, Raba;
Nelson, Isabelle;
Cobo, Anna Maria;
Arné-Bes, Marie-Christine;
Uro-Coste, Emmanuelle;
Nitschke, Patrick;
Claustres, Mireille;
Bonne, Gisèle;
Lévy, Nicolas

Publication type:

Article

Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 940, doi. 10.1038/ejhg.2014.208

By:

Sallustio, Fabio;
Cox, Sharon N;
Serino, Grazia;
Curci, Claudia;
Pesce, Francesco;
De Palma, Giuseppe;
Papagianni, Aikaterini;
Kirmizis, Dimitrios;
Falchi, Mario;
Schena, Francesco P

Publication type:

Article

The correlation between ancestry and color in two cities of Northeast Brazil with contrasting ethnic compositions.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 984, doi. 10.1038/ejhg.2014.215

By:

Magalhães da Silva, Thiago;
Sandhya Rani, M R;
de Oliveira Costa, Gustavo Nunes;
Figueiredo, Maria A;
Melo, Paulo S;
Nascimento, João F;
Molyneaux, Neil D;
Barreto, Maurício L;
Reis, Mitermayer G;
Teixeira, M Glória;
Blanton, Ronald E

Publication type:

Article