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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
Editorial Board.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 22, p. NP, doi. 10.1093/hmg/ddp452
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
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
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
Cover Page.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 22, p. NP, doi. 10.1093/hmg/ddp450
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
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
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
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

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