Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 16

Results: 23

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 16, p. NP, doi. 10.1093/hmg/ddt362
Publication type:: Article

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3394

By:

Ganesh, Santhi K.;
Tragante, Vinicius;
Guo, Wei;
Guo, Yiran;
Lanktree, Matthew B.;
Smith, Erin N.;
Johnson, Toby;
Castillo, Berta Almoguera;
Barnard, John;
Baumert, Jens;
Chang, Yen-Pei Christy;
Elbers, Clara C.;
Farrall, Martin;
Fischer, Mary E.;
Franceschini, Nora;
Gaunt, Tom R.;
Gho, Johannes M.I.H.;
Gieger, Christian;
Gong, Yan;
Isaacs, Aaron

Publication type:

Article

Glucocorticoid receptor is required for foetal heart maturation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3269, doi. 10.1093/hmg/ddt182

By:

Rog-Zielinska, Eva A.;
Thomson, Adrian;
Kenyon, Christopher J.;
Brownstein, David G.;
Moran, Carmel M.;
Szumska, Dorota;
Michailidou, Zoi;
Richardson, Jennifer;
Owen, Elizabeth;
Watt, Alistair;
Morrison, Harris;
Forrester, Lesley M.;
Bhattacharya, Shoumo;
Holmes, Megan C.;
Chapman, Karen E.

Publication type:

Article

Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3381, doi. 10.1093/hmg/ddt189

By:

Reiner, Alexander P.;
Hartiala, Jaana;
Zeller, Tanja;
Bis, Joshua C.;
Dupuis, Josée;
Fornage, Myriam;
Baumert, Jens;
Kleber, Marcus E.;
Wild, Philipp S.;
Baldus, Stephan;
Bielinski, Suzette J.;
Fontes, João D.;
Illig, Thomas;
Keating, Brendan J.;
Lange, Leslie A.;
Ojeda, Francisco;
Müller-Nurasyid, Martina;
Munzel, Thomas F.;
Psaty, Bruce M.;
Rice, Kenneth

Publication type:

Article

Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3363, doi. 10.1093/hmg/ddt185

By:

Sulkava, Sonja;
Ollila, Hanna M.;
Ahola, Kirsi;
Partonen, Timo;
Viitasalo, Katriina;
Kettunen, Johannes;
Lappalainen, Maarit;
Kivimäki, Mika;
Vahtera, Jussi;
Lindström, Jaana;
Härmä, Mikko;
Puttonen, Sampsa;
Salomaa, Veikko;
Paunio, Tiina

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 16, p. NP, doi. 10.1093/hmg/ddt361
Publication type:: Article

Nilotinib reverses loss of dopamine neurons and improves motor behavior via autophagic degradation of α-synuclein in Parkinson's disease models.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3315, doi. 10.1093/hmg/ddt192

By:

Hebron, Michaeline L.;
Lonskaya, Irina;
Moussa, Charbel E.-H.

Publication type:

Article

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3306, doi. 10.1093/hmg/ddt187

By:

Van Maldergem, Lionel;
Hou, Qingming;
Kalscheuer, Vera M.;
Rio, Marlène;
Doco-Fenzy, Martine;
Medeira, Ana;
de Brouwer, Arjan P.M.;
Cabrol, Christelle;
Haas, Stefan A.;
Cacciagli, Pierre;
Moutton, Sébastien;
Landais, Emilie;
Motte, Jacques;
Colleaux, Laurence;
Bonnet, Céline;
Villard, Laurent;
Dupont, Juliette;
Man, Heng-Ye

Publication type:

Article

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3227, doi. 10.1093/hmg/ddt176

By:

Lee, Jong-Min;
Galkina, Ekaterina I.;
Levantovsky, Rachel M.;
Fossale, Elisa;
Anne Anderson, Mary;
Gillis, Tammy;
Srinidhi Mysore, Jayalakshmi;
Coser, Kathryn R.;
Shioda, Toshi;
Zhang, Bin;
Furia, Matthew D.;
Derry, Jonathan;
Kohane, Isaac S.;
Seong, Ihn Sik;
Wheeler, Vanessa C.;
Gusella, James F.;
MacDonald, Marcy E.

Publication type:

Article

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3195, doi. 10.1093/hmg/ddt173

By:

Li, Hong;
Sheridan, Ryan;
Williams, Trevor

Publication type:

Article

Investigation of six testicular germ cell tumor susceptibility genes suggests a parent-of-origin effect in SPRY4.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3373, doi. 10.1093/hmg/ddt188

By:

Karlsson, Robert;
Andreassen, Kristine E.;
Kristiansen, Wenche;
Aschim, Elin L.;
Bremnes, Roy M.;
Dahl, Olav;
Fosså, Sophie D.;
Klepp, Olbjørn;
Langberg, Carl W.;
Solberg, Arne;
Tretli, Steinar;
Magnusson, Patrik K.E.;
Adami, Hans-Olov;
Haugen, Trine B.;
Grotmol, Tom;
Wiklund, Fredrik

Publication type:

Article

Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3347

By:

Zhao, Shuang-Xia;
Xue, Li-Qiong;
Liu, Wei;
Gu, Zhao-Hui;
Pan, Chun-Ming;
Yang, Shao-Ying;
Zhan, Ming;
Wang, Hai-Ning;
Liang, Jun;
Gao, Guan-Qi;
Zhang, Xiao-Mei;
Yuan, Guo-Yue;
Li, Chang-Gui;
Du, Wen-Hua;
Liu, Bing-Li;
Liu, Li-Bin;
Chen, Gang;
Su, Qing;
Peng, Yong-De;
Zhao, Jia-Jun

Publication type:

Article

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3218, doi. 10.1093/hmg/ddt175

By:

Abplanalp, Jeannette;
Laczko, Endre;
Philp, Nancy J.;
Neidhardt, John;
Zuercher, Jurian;
Braun, Philipp;
Schorderet, Daniel F.;
Munier, Francis L.;
Verrey, François;
Berger, Wolfgang;
Camargo, Simone M.R.;
Kloeckener-Gruissem, Barbara

Publication type:

Article

Cytoglobin has bimodal: tumour suppressor and oncogene functions in lung cancer cell lines.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3207, doi. 10.1093/hmg/ddt174

By:

Oleksiewicz, Urszula;
Liloglou, Triantafillos;
Tasopoulou, Kalliopi-Maria;
Daskoulidou, Nikoleta;
Bryan, Julie;
Gosney, John R.;
Field, John K.;
Xinarianos, George

Publication type:

Article

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3259, doi. 10.1093/hmg/ddt180

By:

Korvatska, Olena;
Strand, Nicholas S.;
Berndt, Jason D.;
Strovas, Tim;
Chen, Dong-Hui;
Leverenz, James B.;
Kiianitsa, Konstantin;
Mata, Ignacio F.;
Karakoc, Emre;
Greenup, J. Lynne;
Bonkowski, Emily;
Chuang, Joseph;
Moon, Randall T.;
Eichler, Evan E.;
Nickerson, Deborah A.;
Zabetian, Cyrus P.;
Kraemer, Brian C.;
Bird, Thomas D.;
Raskind, Wendy H.

Publication type:

Article

Genome-wide association study of age at menarche in African-American women.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3329, doi. 10.1093/hmg/ddt181

By:

Demerath, Ellen W.;
Liu, Ching-Ti;
Franceschini, Nora;
Chen, Gary;
Palmer, Julie R.;
Smith, Erin N.;
Chen, Christina T.L.;
Ambrosone, Christine B.;
Arnold, Alice M.;
Bandera, Elisa V.;
Berenson, Gerald S.;
Bernstein, Leslie;
Britton, Angela;
Cappola, Anne R.;
Carlson, Christopher S.;
Chanock, Stephen J.;
Chen, Wei;
Chen, Zhao;
Deming, Sandra L.;
Elks, Cathy E.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 16, p. NP, doi. 10.1093/hmg/ddt360
Publication type:: Article

Mechanism of Polycomb recruitment to CpG islands revealed by inherited disease-associated mutation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3187, doi. 10.1093/hmg/ddt171

By:

Caputo, Valentina S.;
Costa, Joana R.;
Makarona, Kalliopi;
Georgiou, Elisabeth;
Layton, D. Mark;
Roberts, Irene;
Karadimitris, Anastasios

Publication type:

Article

A high-content, high-throughput siRNA screen identifies cyclin D2 as a potent regulator of muscle progenitor cell fusion and a target to enhance muscle regeneration.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3283, doi. 10.1093/hmg/ddt184

By:

Khanjyan, Michael V.;
Yang, Jonathan;
Kayali, Refik;
Caldwell, Thomas;
Bertoni, Carmen

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 16, p. NP, doi. 10.1093/hmg/ddt363
Publication type:: Article

Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3239, doi. 10.1093/hmg/ddt178

By:

Le Guen, Tangui;
Jullien, Laurent;
Touzot, Fabien;
Schertzer, Michael;
Gaillard, Laetitia;
Perderiset, Mylène;
Carpentier, Wassila;
Nitschke, Patrick;
Picard, Capucine;
Couillault, Gérard;
Soulier, Jean;
Fischer, Alain;
Callebaut, Isabelle;
Jabado, Nada;
Londono-Vallejo, Arturo;
de Villartay, Jean-Pierre;
Revy, Patrick

Publication type:

Article

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3250, doi. 10.1093/hmg/ddt179

By:

Yahyavi, Mani;
Abouzeid, Hana;
Gawdat, Ghada;
de Preux, Anne-Sophie;
Xiao, Tong;
Bardakjian, Tanya;
Schneider, Adele;
Choi, Alex;
Jorgenson, Eric;
Baier, Herwig;
El Sada, Mohamad;
Schorderet, Daniel F.;
Slavotinek, Anne M.

Publication type:

Article

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 16, p. 3296

By:

López-Erauskin, J.;
Galino, J.;
Ruiz, M.;
Cuezva, J.M.;
Fabregat, I.;
Cacabelos, D.;
Boada, J.;
Martínez, J.;
Ferrer, I.;
Pamplona, R.;
Villarroya, F.;
Portero-Otín, M.;
Fourcade, S.;
Pujol, A.

Publication type:

Article