Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 16

Results: 22

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3304

By:

Antoniou, Antonis C;
Kartsonaki, Christiana;
Sinilnikova, Olga M.;
Soucy, Penny;
McGuffog, Lesley;
Healey, Sue;
Lee, Andrew;
Peterlongo, Paolo;
Manoukian, Siranoush;
Peissel, Bernard;
Zaffaroni, Daniela;
Cattaneo, Elisa;
Barile, Monica;
Pensotti, Valeria;
Pasini, Barbara;
Dolcetti, Riccardo;
Giannini, Giuseppe;
Laura Putignano, Anna;
Varesco, Liliana;
Radice, Paolo

Publication type:

Article

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3266

By:

López-Hernández, Tania;
Sirisi, Sònia;
Capdevila-Nortes, Xavier;
Montolio, Marisol;
Fernández-Dueñas, Victor;
Scheper, Gert C.;
van der Knaap, Marjo S.;
Casquero, Pilar;
Ciruela, Francisco;
Ferrer, Isidre;
Nunes, Virginia;
Estévez, Raúl

Publication type:

Article

Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3129, doi. 10.1093/hmg/ddr215

By:

Bijlmakers, Marie-José;
Kanneganti, Seshu K.;
Barker, Jonathan N.;
Trembath, Richard C.;
Capon, Francesca

Publication type:

Article

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3289, doi. 10.1093/hmg/ddr228

By:

Broeks, Annegien;
Schmidt, Marjanka K.;
Sherman, Mark E.;
Couch, Fergus J.;
Hopper, John L.;
Dite, Gillian S.;
Apicella, Carmel;
Smith, Letitia D.;
Hammet, Fleur;
Southey, Melissa C.;
Van ’t Veer, Laura J.;
de Groot, Renate;
Smit, Vincent T. H. B. M.;
Fasching, Peter A.;
Beckmann, Matthias W.;
Jud, Sebastian;
Ekici, Arif B.;
Hartmann, Arndt;
Hein, Alexander;
Schulz-Wendtland, Ruediger

Publication type:

Article

Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3119, doi. 10.1093/hmg/ddr214

By:

Slanchev, Krasimir;
Pütz, Michael;
Schmitt, Annette;
Kramer-Zucker, Albrecht;
Walz, Gerd

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 16, p. NP, doi. 10.1093/hmg/ddr279
Publication type:: Article

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3188, doi. 10.1093/hmg/ddr224

By:

Nakabayashi, Kazuhiko;
Trujillo, Alex Martin;
Tayama, Chiharu;
Camprubi, Cristina;
Yoshida, Wataru;
Lapunzina, Pablo;
Sanchez, Aurora;
Soejima, Hidenobu;
Aburatani, Hiroyuki;
Nagae, Genta;
Ogata, Tsutomu;
Hata, Kenichiro;
Monk, David

Publication type:

Article

Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3198, doi. 10.1093/hmg/ddr225

By:

Cunningham, Kirk;
Uchida, Yutaka;
O'Donnell, Erin;
Claudio, Estefania;
Li, Wenling;
Soneji, Kosha;
Wang, Hongshan;
Mukouyama, Yoh-suke;
Siebenlist, Ulrich

Publication type:

Article

The PINK1/Parkin pathway regulates mitochondrial dynamics and function in mammalian hippocampal and dopaminergic neurons.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3227, doi. 10.1093/hmg/ddr235

By:

Yu, Wendou;
Sun, Yaping;
Guo, Su;
Lu, Bingwei

Publication type:

Article

RAD51C is a susceptibility gene for ovarian cancer.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3278, doi. 10.1093/hmg/ddr229

By:

Pelttari, Liisa M.;
Heikkinen, Tuomas;
Thompson, Deborah;
Kallioniemi, Anne;
Schleutker, Johanna;
Holli, Kaija;
Blomqvist, Carl;
Aittomäki, Kristiina;
Bützow, Ralf;
Nevanlinna, Heli

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 16, p. NP, doi. 10.1093/hmg/ddr278
Publication type:: Article

DNMT1 deficiency triggers mismatch repair defects in human cells through depletion of repair protein levels in a process involving the DNA damage response.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3241, doi. 10.1093/hmg/ddr236

By:

Loughery, Jayne E.P.;
Dunne, Philip D.;
O'Neill, Karla M.;
Meehan, Richard R.;
McDaid, Jennifer R.;
Walsh, Colum P.

Publication type:

Article

Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3213, doi. 10.1093/hmg/ddr234

By:

Han, Yanchao;
Mu, Yu;
Li, Xiaoquan;
Xu, Pengfei;
Tong, Jingyuan;
Liu, Zhaoting;
Ma, Tingting;
Zeng, Guodong;
Yang, Shuyan;
Du, Jiulin;
Meng, Anming

Publication type:

Article

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3138, doi. 10.1093/hmg/ddr216

By:

Layman, Wanda S.;
Hurd, Elizabeth A.;
Martin, Donna M.

Publication type:

Article

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3256, doi. 10.1093/hmg/ddr237

By:

Duering, Marco;
Karpinska, Anna;
Rosner, Stefanie;
Hopfner, Franziska;
Zechmeister, Martin;
Peters, Nils;
Kremmer, Elisabeth;
Haffner, Christof;
Giese, Armin;
Dichgans, Martin;
Opherk, Christian

Publication type:

Article

Large-scale fine mapping of the HNF1B locus and prostate cancer risk.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3322, doi. 10.1093/hmg/ddr213

By:

Berndt, Sonja I.;
Sampson, Joshua;
Yeager, Meredith;
Jacobs, Kevin B.;
Wang, Zhaoming;
Hutchinson, Amy;
Chung, Charles;
Orr, Nick;
Wacholder, Sholom;
Chatterjee, Nilanjan;
Yu, Kai;
Kraft, Peter;
Feigelson, Heather Spencer;
Thun, Michael J.;
Diver, W. Ryan;
Albanes, Demetrius;
Virtamo, Jarmo;
Weinstein, Stephanie;
Schumacher, Fredrick R.;
Cancel-Tassin, Geraldine

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 16, p. NP, doi. 10.1093/hmg/ddr276
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 16, p. NP, doi. 10.1093/hmg/ddr277
Publication type:: Article

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3161, doi. 10.1093/hmg/ddr218

By:

Carvalho, Livia S.;
Xu, Jianhua;
Pearson, Rachael A.;
Smith, Alexander J.;
Bainbridge, James W.;
Morris, Lynsie M.;
Fliesler, Steven J.;
Ding, Xi-Qin;
Ali, Robin R.

Publication type:

Article

Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3176, doi. 10.1093/hmg/ddr223

By:

Zhang, Shiqiang;
Chen, Shen;
Li, Wen;
Guo, Xiangpeng;
Zhao, Ping;
Xu, Jianyong;
Chen, Yan;
Pan, Qiong;
Liu, Xiaorong;
Zychlinski, Daniela;
Lu, Hai;
Tortorella, Micky D.;
Schambach, Axel;
Wang, Yan;
Pei, Duanqing;
Esteban, Miguel A.

Publication type:

Article

Ataxin-2 repeat-length variation and neurodegeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3207, doi. 10.1093/hmg/ddr227

By:

Ross, Owen A.;
Rutherford, Nicola J.;
Baker, Matt;
Soto-Ortolaza, Alexandra I.;
Carrasquillo, Minerva M.;
DeJesus-Hernandez, Mariely;
Adamson, Jennifer;
Li, Ma;
Volkening, Kathryn;
Finger, Elizabeth;
Seeley, William W.;
Hatanpaa, Kimmo J.;
Lomen-Hoerth, Catherine;
Kertesz, Andrew;
Bigio, Eileen H.;
Lippa, Carol;
Woodruff, Bryan K.;
Knopman, David S.;
White, Charles L.;
Van Gerpen, Jay A.

Publication type:

Article

Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 16, p. 3151, doi. 10.1093/hmg/ddr217

By:

Du, Liutao;
Kayali, Refik;
Bertoni, Carmen;
Fike, Francesca;
Hu, Hailiang;
Iversen, Patrick L.;
Gatti, Richard A.

Publication type:

Article