Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 9

Results: 22

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp144
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp145
Publication type:: Article

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1566, doi. 10.1093/hmg/ddp068

By:

Jiang, Si-Tse;
Chiou, Yuan-Yow;
Wang, Ellian;
Chien, Yi-Lin;
Ho, Hua-Hui;
Tsai, Fang-Ju;
Lin, Chun-Yu;
Tsai, Shu-Ping;
Li, Hung

Publication type:

Article

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1717, doi. 10.1093/hmg/ddp082

By:

Bassett, Anne S.;
Marshall, Christian R.;
Lionel, Anath C.;
Chow, Eva W.C.;
Scherer, Stephen W.

Publication type:

Article

Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves’ disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1704, doi. 10.1093/hmg/ddp087

By:

Brand, Oliver J.;
Barrett, Jeffrey C.;
Simmonds, Matthew J.;
Newby, Paul R.;
McCabe, Christopher J.;
Bruce, Christopher K.;
Kysela, Boris;
Carr-Smith, Jackie D.;
Brix, Thomas;
Hunt, Penny J.;
Wiersinga, Wilmar M.;
Hegedüs, Laszlo;
Connell, John;
Wass, John A.H.;
Franklyn, Jayne A.;
Weetman, Anthony P.;
Heward, Joanne M.;
Gough, Stephen C.L.

Publication type:

Article

Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1684, doi. 10.1093/hmg/ddp077

By:

Nielsen, Henriette Svarre;
Steffensen, Rudi;
Varming, Kim;
Van Halteren, Astrid G.S.;
Spierings, Eric;
Ryder, Lars P.;
Goulmy, Els;
Christiansen, Ole Bjarne

Publication type:

Article

Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1624, doi. 10.1093/hmg/ddp080

By:

Carney, Amanda E.;
Sanders, Rebecca D.;
Garza, Kerry R.;
McGaha, Lee Anne;
Bean, Lora J. H.;
Coffee, Bradford W.;
Thomas, James W.;
Cutler, David J.;
Kurtkaya, Natalie L.;
Fridovich-Keil, Judith L.

Publication type:

Article

Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1652, doi. 10.1093/hmg/ddp086

By:

Suzuki, Go;
Harper, Kathryn M.;
Hiramoto, Takeshi;
Sawamura, Takehito;
Lee, MoonSook;
Kang, Gina;
Tanigaki, Kenji;
Buell, Mahalah;
Geyer, Mark A.;
Trimble, William S.;
Agatsuma, Soh;
Hiroi, Noboru

Publication type:

Article

Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1600, doi. 10.1093/hmg/ddp076

By:

Baughan, Travis D.;
Dickson, Alexa;
Osman, Erkan Y.;
Lorson, Christian L.

Publication type:

Article

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1642, doi. 10.1093/hmg/ddp085

By:

Wang, Lijun;
Deng, Han-Xiang;
Grisotti, Gabriella;
Zhai, Hong;
Siddique, Teepu;
Roos, Raymond P.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp143
Publication type:: Article

Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1670, doi. 10.1093/hmg/ddp073

By:

Kallio, Suvi P.;
Jakkula, Eveliina;
Purcell, Shaun;
Suvela, Minna;
Koivisto, Keijo;
Tienari, Pentti J.;
Elovaara, Irina;
Pirttilä, Tuula;
Reunanen, Mauri;
Bronnikov, Denis;
Viander, Markku;
Meri, Seppo;
Hillert, Jan;
Lundmark, Frida;
Harbo, Hanne F.;
Lorentzen, Åslaug R.;
De Jager, Philip L.;
Daly, Mark J.;
Hafler, David A.;
Palotie, Aarno

Publication type:

Article

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1714, doi. 10.1093/hmg/ddp062

By:

Dimitrov, Ariane;
Paupe, Vincent;
Gueudry, Charles;
Sibarita, Jean-Baptiste;
Raposo, Graça;
Vielemeyer, Ole;
Gilbert, Thierry;
Csaba, Zsolt;
Attie-Bitach, Tania;
Cormier-Daire, Valérie;
Gressens, Pierre;
Rustin, Pierre;
Perez, Franck;
El Ghouzzi, Vincent

Publication type:

Article

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1556, doi. 10.1093/hmg/ddp067

By:

Parfitt, David A.;
Michael, Gregory J.;
Vermeulen, Esmeralda G.M.;
Prodromou, Natalia V.;
Webb, Tom R.;
Gallo, Jean-Marc;
Cheetham, Michael E.;
Nicoll, William S.;
Blatch, Gregory L.;
Chapple, J. Paul

Publication type:

Article

Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1661, doi. 10.1093/hmg/ddn405

By:

Lei, Shu-Feng;
Tan, Li-Jun;
Liu, Xiao-Gang;
Wang, Liang;
Yan, Han;
Guo, Yan-Fang;
Liu, Yao-Zhong;
Xiong, Dong-Hai;
Li, Jian;
Yang, Tie-Lin;
Chen, Xiang-Ding;
Guo, Yan;
Deng, Fei-Yan;
Zhang, Yin-Ping;
Zhu, Xue-Zhen;
Levy, Shawn;
Papasian, Christopher J.;
Hamilton, James J.;
Recker, Robert R.;
Deng, Hong-Wen

Publication type:

Article

A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1578, doi. 10.1093/hmg/ddp069

By:

Park, Jeong Soon;
Sharma, Lokendra Kumar;
Li, Hongzhi;
Xiang, Ruihua;
Holstein, Deborah;
Wu, Jun;
Lechleiter, James;
Naylor, Susan L.;
Deng, Janice J.;
Lu, Jianxin;
Bai, Yidong

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 9, p. NP, doi. 10.1093/hmg/ddp146
Publication type:: Article

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1633, doi. 10.1093/hmg/ddp081

By:

Papale, Ligia A.;
Beyer, Barbara;
Jones, Julie M.;
Sharkey, Lisa M.;
Tufik, Sergio;
Epstein, Michael;
Letts, Verity A.;
Meisler, Miriam H.;
Frankel, Wayne N.;
Escayg, Andrew

Publication type:

Article

Germline CDH1 deletions in hereditary diffuse gastric cancer families.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1545, doi. 10.1093/hmg/ddp046

By:

Oliveira, Carla;
Senz, Janine;
Kaurah, Pardeep;
Pinheiro, Hugo;
Sanges, Remo;
Haegert, Anne;
Corso, Giovanni;
Schouten, Jan;
Fitzgerald, Rebecca;
Vogelsang, Holger;
Keller, Gisela;
Dwerryhouse, Sarah;
Grimmer, Donna;
Chin, Suet-Feung;
Yang, Han-Kwang;
Jackson, Charles E.;
Seruca, Raquel;
Roviello, Franco;
Stupka, Elia;
Caldas, Carlos

Publication type:

Article

FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1692, doi. 10.1093/hmg/ddp078

By:

Udler, Miriam S.;
Meyer, Kerstin B.;
Pooley, Karen A.;
Karlins, Eric;
Struewing, Jeffery P.;
Zhang, Jinghui;
Doody, David R.;
MacArthur, Stewart;
Tyrer, Jonathan;
Pharoah, Paul D.;
Luben, Robert;
Bernstein, Leslie;
Kolonel, Laurence N.;
Henderson, Brian E.;
Le Marchand, Loic;
Ursin, Giske;
Press, Michael F.;
Brennan, Paul;
Sangrajrang, Suleeporn;
Gaborieau, Valerie

Publication type:

Article

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1612, doi. 10.1093/hmg/ddp079

By:

Maier, Esther M.;
Gersting, Søren W.;
Kemter, Kristina F.;
Jank, Johanna M.;
Reindl, Maria;
Messing, Dunja D.;
Truger, Marietta S.;
Sommerhoff, Christian P.;
Muntau, Ania C.

Publication type:

Article

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1590, doi. 10.1093/hmg/ddp074

By:

Bulst, Stefanie;
Abicht, Angela;
Holinski-Feder, Elke;
Müller-Ziermann, Solvig;
Koehler, Udo;
Thirion, Christian;
Walter, Maggie C.;
Stewart, Joanna D.;
Chinnery, Patrick F.;
Lochmüller, Hanns;
Horvath, Rita

Publication type:

Article