Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 22

Results: 24

A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4457, doi. 10.1093/hmg/ddp388

By:

Zuccolo, Luisa;
Fitz-Simon, Nicola;
Gray, Ron;
Ring, Susan M.;
Sayal, Kapil;
Smith, George Davey;
Lewis, Sarah J.

Publication type:

Article

Mice defective in Trpm6 show embryonic mortality and neural tube defects.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4367, doi. 10.1093/hmg/ddp392

By:

Walder, Roxanne Y.;
Yang, Baoli;
Stokes, John B.;
Kirby, Patricia A.;
Cao, Xiao;
Shi, Peijun;
Searby, Charles C.;
Husted, Russell F.;
Sheffield, Val C.

Publication type:

Article

Knock-down of PQBP1 impairs anxiety-related cognition in mouse.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4239, doi. 10.1093/hmg/ddp378

By:

Ito, Hikaru;
Yoshimura, Natsue;
Kurosawa, Masaru;
Ishii, Shunsuke;
Nukina, Nobuyuki;
Okazawa, Hitoshi

Publication type:

Article

The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith–Wiedemann region.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4255, doi. 10.1093/hmg/ddp379

By:

Lefebvre, Louis;
Mar, Lynn;
Bogutz, Aaron;
Oh-McGinnis, Rosemary;
Mandegar, Mohammad A.;
Paderova, Jana;
Gertsenstein, Marina;
Squire, Jeremy A.;
Nagy, Andras

Publication type:

Article

Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4282, doi. 10.1093/hmg/ddp381

By:

Boy, Jana;
Schmidt, Thorsten;
Wolburg, Hartwig;
Mack, Andreas;
Nuber, Silke;
Böttcher, Martin;
Schmitt, Ina;
Holzmann, Carsten;
Zimmermann, Frank;
Servadio, Antonio;
Riess, Olaf

Publication type:

Article

Pluripotency can be rapidly and efficiently induced in human amniotic fluid-derived cells.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4340, doi. 10.1093/hmg/ddp386

By:

Li, Chunliang;
Zhou, Junmei;
Shi, Guilai;
Ma, Yu;
Yang, Ying;
Gu, Junjie;
Yu, Hongyao;
Jin, Shibo;
Wei, Zhe;
Chen, Fang;
Jin, Ying

Publication type:

Article

A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4405, doi. 10.1093/hmg/ddp395

By:

Yin, HaiFang;
Moulton, Hong M.;
Betts, Corinne;
Seow, Yiqi;
Boutilier, Jordan;
Iverson, Patrick L.;
Wood, Matthew J.A.

Publication type:

Article

Transplantation directs oocyte maturation from embryonic stem cells and provides a therapeutic strategy for female infertility.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4376, doi. 10.1093/hmg/ddp393

By:

Nicholas, Cory R.;
Haston, Kelly M.;
Grewall, Amarjeet K.;
Longacre, Teri A.;
Reijo Pera, Renee A.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 22, p. NP, doi. 10.1093/hmg/ddp448
Publication type:: Article

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4329, doi. 10.1093/hmg/ddp385

By:

Won, Jungyeon;
Gifford, Elaine;
Smith, Richard S.;
Yi, Haiqing;
Ferreira, Paulo A.;
Hicks, Wanda L.;
Li, Tiansen;
Naggert, Jürgen K.;
Nishina, Patsy M.

Publication type:

Article

Expression quantitative trait loci detected in cell lines are often present in primary tissues.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4296, doi. 10.1093/hmg/ddp382

By:

Bullaughey, Kevin;
Chavarria, Claudia I.;
Coop, Graham;
Gilad, Yoav

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 22, p. NP, doi. 10.1093/hmg/ddp450
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 22, p. NP, doi. 10.1093/hmg/ddp452
Publication type:: Article

Stra13 regulates oxidative stress mediated skeletal muscle degeneration.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4304, doi. 10.1093/hmg/ddp383

By:

Vercherat, Cécile;
Chung, Teng-Kai;
Yalcin, Safak;
Gulbagci, Neriman;
Gopinadhan, Suma;
Ghaffari, Saghi;
Taneja, Reshma

Publication type:

Article

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4350, doi. 10.1093/hmg/ddp389

By:

Paesold-Burda, Patricie;
Maag, Charlotte;
Troxler, Heinz;
Foulquier, François;
Kleinert, Peter;
Schnabel, Siegrun;
Baumgartner, Matthias;
Hennet, Thierry

Publication type:

Article

ALX4 dysfunction disrupts craniofacial and epidermal development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4357, doi. 10.1093/hmg/ddp391

By:

Kayserili, Hulya;
Uz, Elif;
Niessen, Carien;
Vargel, Ibrahim;
Alanay, Yasemin;
Tuncbilek, Gokhan;
Yigit, Gokhan;
Uyguner, Oya;
Candan, Sukru;
Okur, Hamza;
Kaygin, Serkan;
Balci, Sevim;
Mavili, Emin;
Alikasifoglu, Mehmet;
Haase, Ingo;
Wollnik, Bernd;
Akarsu, Nurten Ayse

Publication type:

Article

Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4415, doi. 10.1093/hmg/ddp397

By:

Jasinska, Anna J.;
Service, Susan;
Choi, Oi-wa;
DeYoung, Joseph;
Grujic, Olivera;
Kong, Sit-yee;
Jorgensen, Matthew J.;
Bailey, Julia;
Breidenthal, Sherry;
Fairbanks, Lynn A.;
Woods, Roger P.;
Jentsch, J. David;
Freimer, Nelson B.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 22, p. NP, doi. 10.1093/hmg/ddp454
Publication type:: Article

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4442, doi. 10.1093/hmg/ddp372

By:

Antoniou, Antonis C.;
Sinilnikova, Olga M.;
McGuffog, Lesley;
Healey, Sue;
Nevanlinna, Heli;
Heikkinen, Tuomas;
Simard, Jacques;
Spurdle, Amanda B.;
Beesley, Jonathan;
Chen, Xiaoqing;
Neuhausen, Susan L.;
Ding, Yuan C.;
Couch, Fergus J.;
Wang, Xianshu;
Fredericksen, Zachary;
Peterlongo, Paolo;
Peissel, Bernard;
Bonanni, Bernardo;
Viel, Alessandra;
Bernard, Loris

Publication type:

Article

Gp78, an ER associated E3, promotes SOD1 and ataxin-3 degradation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4268, doi. 10.1093/hmg/ddp380

By:

Ying, Zheng;
Wang, Hongfeng;
Fan, Huadong;
Zhu, Xiaodong;
Zhou, Jiawei;
Fei, Erkang;
Wang, Guanghui

Publication type:

Article

Leucine-rich repeat kinase 2 interacts with Parkin, DJ-1 and PINK-1 in a Drosophila melanogaster model of Parkinson's disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4390, doi. 10.1093/hmg/ddp394

By:

Venderova, Katerina;
Kabbach, Ghassan;
Abdel-Messih, Elizabeth;
Zhang, Yi;
Parks, Robin J.;
Imai, Yuzuru;
Gehrke, Stephan;
Ngsee, Johnny;
LaVoie, Matthew J.;
Slack, Ruth S.;
Rao, Yong;
Zhang, Zhuohua;
Lu, Bingwei;
Haque, M. Emdadul;
Park, David S.

Publication type:

Article

Parkin selectively alters the intrinsic threshold for mitochondrial cytochrome c release.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4317, doi. 10.1093/hmg/ddp384

By:

Berger, Alison K.;
Cortese, Giuseppe P.;
Amodeo, Katherine D.;
Weihofen, Andreas;
Letai, Anthony;
LaVoie, Matthew J.

Publication type:

Article

Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4227, doi. 10.1093/hmg/ddp373

By:

Leung, Karen N.;
Vallero, Roxanne O.;
DuBose, Amanda J.;
Resnick, James L.;
LaSalle, Janine M.

Publication type:

Article

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 22, p. 4428, doi. 10.1093/hmg/ddp398

By:

Zhou, Jing;
Brugarolas, James;
Parada, Luis F.

Publication type:

Article