Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 10

Results: 31

Interleukin-37 gene variants segregated anciently coexist during hominid evolution.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1392, doi. 10.1038/ejhg.2014.302

By:

Kang, Bin;
Cheng, Shimeng;
Peng, Jinbiao;
Yan, Jingjing;
Zhang, Shuye

Publication type:

Article

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1341, doi. 10.1038/ejhg.2014.291

By:

Huang, Jiwei;
Zhang, Xinhua;
Liu, Dun;
Wei, Xiaofeng;
Shang, Xuan;
Xiong, Fu;
Yu, Lihua;
Yin, Xiaolin;
Xu, Xiangmin

Publication type:

Article

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1427, doi. 10.1038/ejhg.2014.297

By:

Ylikallio, Emil;
Kim, Doyoun;
Isohanni, Pirjo;
Auranen, Mari;
Kim, Eunjoon;
Lönnqvist, Tuula;
Tyynismaa, Henna

Publication type:

Article

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1399, doi. 10.1038/ejhg.2014.286

By:

Dryomov, Stanislav V;
Nazhmidenova, Azhar M;
Shalaurova, Sophia A;
Morozov, Igor V;
Tabarev, Andrei V;
Starikovskaya, Elena B;
Sukernik, Rem I

Publication type:

Article

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1434, doi. 10.1038/ejhg.2015.17

By:

Jalkh, Nadine;
Sahbatou, Mourad;
Chouery, Eliane;
Megarbane, André;
Leutenegger, Anne-Louise;
Serre, Jean-Louis

Publication type:

Article

Clinical utility gene card for: Arterial tortuosity syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.294

By:

Albuisson, Juliette;
Moceri, Pamela;
Flori, Elisabeth;
Belli, Emre;
Gronier, Céline;
Jeunemaitre, Xavier

Publication type:

Article

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.146

By:

Jaeken, Jaak;
Lefeber, Dirk;
Matthijs, Gert

Publication type:

Article

Genomic cloud computing: legal and ethical points to consider.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1271, doi. 10.1038/ejhg.2014.196

By:

Dove, Edward S;
Joly, Yann;
Tassé, Anne-Marie;
Knoppers, Bartha M

Publication type:

Article

Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1378, doi. 10.1038/ejhg.2015.3

By:

Franić, Sanja;
Groen-Blokhuis, Maria M;
Dolan, Conor V;
Kattenberg, Mathijs V;
Pool, René;
Xiao, Xiangjun;
Scheet, Paul A;
Ehli, Erik A;
Davies, Gareth E;
van der Sluis, Sophie;
Abdellaoui, Abdel;
Hansell, Narelle K;
Martin, Nicholas G;
Hudziak, James J;
van Beijsterveldt, Catherina E M;
Swagerman, Suzanne C;
Hulshoff Pol, Hilleke E;
de Geus, Eco J C;
Bartels, Meike;
Ropers, H Hilger

Publication type:

Article

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293

By:

Janer, Alexandre;
van Karnebeek, Clara DM;
Sasarman, Florin;
Antonicka, Hana;
Al Ghamdi, Malak;
Shyr, Casper;
Dunbar, Mary;
Stockler-Ispiroglu, Sylvia;
Ross, Colin J;
Vallance, Hilary;
Dionne, Janis;
Wasserman, Wyeth W;
Shoubridge, Eric A

Publication type:

Article

The phenotype of congenital insensitivity to pain due to the Na<sub>V</sub>1.9 variant p.L811P.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1434, doi. 10.1038/ejhg.2015.163

By:

Woods, Christopher Geoffrey;
Babiker, Mohamed Osman Eltahir;
Horrocks, Iain;
Tolmie, John;
Kurth, Ingo

Publication type:

Article

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1318, doi. 10.1038/ejhg.2014.283

By:

Lenassi, Eva;
Vincent, Ajoy;
Li, Zheng;
Saihan, Zubin;
Coffey, Alison J;
Steele-Stallard, Heather B;
Moore, Anthony T;
Steel, Karen P;
Luxon, Linda M;
Héon, Elise;
Bitner-Glindzicz, Maria;
Webster, Andrew R

Publication type:

Article

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1328, doi. 10.1038/ejhg.2014.300

By:

Schulte, Eva C;
Fukumori, Akio;
Mollenhauer, Brit;
Hor, Hyun;
Arzberger, Thomas;
Perneczky, Robert;
Kurz, Alexander;
Diehl-Schmid, Janine;
Hüll, Michael;
Lichtner, Peter;
Eckstein, Gertrud;
Zimprich, Alexander;
Haubenberger, Dietrich;
Pirker, Walter;
Brücke, Thomas;
Bereznai, Benjamin;
Molnar, Maria J;
Lorenzo-Betancor, Oswaldo;
Pastor, Pau;
Peters, Annette

Publication type:

Article

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1364, doi. 10.1038/ejhg.2014.246

By:

Jalkh, Nadine;
Sahbatou, Mourad;
Chouery, Eliane;
Megarbane, André;
Leutenegger, Anne-Louise;
Serre, Jean-Louis

Publication type:

Article

Redefining the MED13L syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1308, doi. 10.1038/ejhg.2015.26

By:

Adegbola, Abidemi;
Musante, Luciana;
Callewaert, Bert;
Maciel, Patricia;
Hu, Hao;
Isidor, Bertrand;
Picker-Minh, Sylvie;
Le Caignec, Cedric;
Delle Chiaie, Barbara;
Vanakker, Olivier;
Menten, Björn;
Dheedene, Annelies;
Bockaert, Nele;
Roelens, Filip;
Decaestecker, Karin;
Silva, João;
Soares, Gabriela;
Lopes, Fátima;
Najmabadi, Hossein;
Kahrizi, Kimia

Publication type:

Article

Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1357, doi. 10.1038/ejhg.2014.284

By:

Dandine-Roulland, Claire;
Perdry, Hervé

Publication type:

Article

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.274

By:

Bravenboer, Nathalie;
Micha, Dimitra;
Triffit, James T;
Bullock, Alex N;
Ravazollo, Roberto;
Bocciardi, Renata;
di Rocco, Maja;
Netelenbos, J Coen;
Ten Dijke, Peter;
Sánchez-Duffhues, Gonzalo;
Kaplan, Fred S;
Shore, Eileen M;
Pignolo, Robert J;
Seemann, Petra;
Ventura, Francesc;
Beaujat, Genevieve;
Eekhoff, Elizabeth M W;
Pals, Gerard

Publication type:

Article

Evaluation and Treatment of Myopathies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1433, doi. 10.1038/ejhg.2015.127

By:

Haberlová, J

Publication type:

Article

Clinical utility gene card for: Cornelia de Lange syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.270

By:

Ramos, Feliciano J;
Puisac, Beatriz;
Baquero-Montoya, Carolina;
Gil-Rodríguez, Ma Concepción;
Bueno, Inés;
Deardorff, Matthew A;
Hennekam, Raoul C;
Kaiser, Frank J;
Krantz, Ian D;
Musio, Antonio;
Selicorni, Angelo;
FitzPatrick, David R;
Pié, Juan

Publication type:

Article

Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1413, doi. 10.1038/ejhg.2014.285

By:

Balaresque, Patricia;
Poulet, Nicolas;
Cussat-Blanc, Sylvain;
Gerard, Patrice;
Quintana-Murci, Lluis;
Heyer, Evelyne;
Jobling, Mark A

Publication type:

Article

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1294, doi. 10.1038/ejhg.2014.301

By:

Wong, Siaw H;
McClaren, Belinda J;
Archibald, Alison Dalton;
Weeks, Alice;
Langmaid, Tess;
Ryan, Monique M;
Kornberg, Andrew;
Metcalfe, Sylvia A

Publication type:

Article

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1334, doi. 10.1038/ejhg.2014.292

By:

Domingo, Aloysius;
Westenberger, Ana;
Lee, Lillian V;
Brænne, Ingrid;
Liu, Tian;
Vater, Inga;
Rosales, Raymond;
Jamora, Roland Dominic;
Pasco, Paul Matthew;
Cutiongco-dela Paz, Eva Maria;
Freimann, Karen;
Schmidt, Thomas GPM;
Dressler, Dirk;
Kaiser, Frank J;
Bertram, Lars;
Erdmann, Jeanette;
Lohmann, Katja;
Klein, Christine

Publication type:

Article

Extensive genome-wide autozygosity in the population isolates of Daghestan.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1405, doi. 10.1038/ejhg.2014.299

By:

Karafet, Tatiana M;
Bulayeva, Kazima B;
Bulayev, Oleg A;
Gurgenova, Farida;
Omarova, Jamilia;
Yepiskoposyan, Levon;
Savina, Olga V;
Veeramah, Krishna R;
Hammer, Michael F

Publication type:

Article

Research participants in NGS studies want to know about incidental findings.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1423, doi. 10.1038/ejhg.2014.298

By:

Jelsig, Anne Marie;
Qvist, Niels;
Brusgaard, Klaus;
Ousager, Lilian Bomme

Publication type:

Article

Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1281, doi. 10.1038/ejhg.2014.221

By:

Shkedi-Rafid, Shiri;
Fenwick, Angela;
Dheensa, Sandi;
Lucassen, Anneke M

Publication type:

Article

Reply to Stoimenis et al.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1280, doi. 10.1038/ejhg.2014.288

By:

Bakir-Gungor, Burcu;
Remmers, Elaine F;
Meguro, Akira;
Mizuki, Nobuhisa;
Kastner, Daniel L;
Gul, Ahmet;
Sezerman, Osman Ugur

Publication type:

Article

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1286, doi. 10.1038/ejhg.2014.282

By:

Bayindir, Baran;
Dehaspe, Luc;
Brison, Nathalie;
Brady, Paul;
Ardui, Simon;
Kammoun, Molka;
Van der Veken, Lars;
Lichtenbelt, Klaske;
Van den Bogaert, Kris;
Van Houdt, Jeroen;
Peeters, Hilde;
Van Esch, Hilde;
de Ravel, Thomy;
Legius, Eric;
Devriendt, Koen;
Vermeesch, Joris R

Publication type:

Article

GWAS with longitudinal phenotypes: performance of approximate procedures.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1384, doi. 10.1038/ejhg.2015.1

By:

Sikorska, Karolina;
Montazeri, Nahid Mostafavi;
Uitterlinden, André;
Rivadeneira, Fernando;
Eilers, Paul HC;
Lesaffre, Emmanuel

Publication type:

Article

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1349, doi. 10.1038/ejhg.2014.281

By:

Mastrokolias, Anastasios;
Ariyurek, Yavuz;
Goeman, Jelle J;
van Duijn, Erik;
Roos, Raymund AC;
van der Mast, Roos C;
van Ommen, GertJan B;
den Dunnen, Johan T;
't Hoen, Peter AC;
van Roon-Mom, Willeke MC

Publication type:

Article

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1370, doi. 10.1038/ejhg.2014.296

By:

Simpson, Nuala H;
Ceroni, Fabiola;
Reader, Rose H;
Covill, Laura E;
Knight, Julian C;
Hennessy, Elizabeth R;
Bolton, Patrick F;
Conti-Ramsden, Gina;
O'Hare, Anne;
Baird, Gillian;
Fisher, Simon E;
Newbury, Dianne F

Publication type:

Article

'Epistatic interactions between autoimmunity and genetic thrombophilia'.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1279, doi. 10.1038/ejhg.2014.287

By:

Stoimenis, Dimitrios;
Petridis, Nikolaos;
Papaioannou, Nikos

Publication type:

Article