Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 8

Results: 24

MeCP2 involvement in the regulation of neuronal α-tubulin production.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1415, doi. 10.1093/hmg/ddp048

By:

Abuhatzira, Liron;
Shemer, Ruth;
Razin, Aharon

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 8, p. NP, doi. 10.1093/hmg/ddp142
Publication type:: Article

DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1405, doi. 10.1093/hmg/ddp047

By:

Lepagnol-Bestel, Aude-Marie;
Zvara, Agnes;
Maussion, Gilles;
Quignon, Frédérique;
Ngimbous, Bedel;
Ramoz, Nicolas;
Imbeaud, Sandrine;
Loe-Mie, Yann;
Benihoud, Karim;
Agier, Nicolas;
Salin, Paul A.;
Cardona, Ana;
Khung-Savatovsky, Suonavy;
Kallunki, Pekka;
Delabar, Jean-Maurice;
Puskas, Laszlo G.;
Delacroix, Hervé;
Aggerbeck, Lawrence;
Delezoide, Anne-Lise;
Delattre, Olivier

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 8, p. NP, doi. 10.1093/hmg/ddp140
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 8, p. NP, doi. 10.1093/hmg/ddp141
Publication type:: Article

Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1518, doi. 10.1093/hmg/ddp053

By:

Meulenbelt, Ingrid;
Chapman, Kay;
Dieguez-Gonzalez, Rebeca;
Shi, Dongquan;
Tsezou, Aspasia;
Dai, Jin;
Malizos, Konstantinos N.;
Kloppenburg, Margreet;
Carr, Andrew;
Nakajima, Masahiro;
van der Breggen, Ruud;
Lakenberg, Nico;
Gomez-Reino, Juan J.;
Jiang, Qing;
Ikegawa, Shiro;
Gonzalez, Antonio;
Loughlin, John;
Slagboom, Eline P.

Publication type:

Article

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1524, doi. 10.1093/hmg/ddp059

By:

Chiò, Adriano;
Schymick, Jennifer C.;
Restagno, Gabriella;
Scholz, Sonja W.;
Lombardo, Federica;
Lai, Shiao-Lin;
Mora, Gabriele;
Fung, Hon-Chung;
Britton, Angela;
Arepalli, Sampath;
Gibbs, J. Raphael;
Nalls, Michael;
Berger, Stephen;
Kwee, Lydia Coulter;
Oddone, Eugene Z.;
Ding, Jinhui;
Crews, Cynthia;
Rafferty, Ian;
Washecka, Nicole;
Hernandez, Dena

Publication type:

Article

Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1543, doi. 10.1093/hmg/ddp050

By:

Stayner, Cherie;
Iglesias, Diana M.;
Goodyer, Paul R.;
Ellis, Lana;
Germino, Greg;
Zhou, Jing;
Eccles, Michael R.

Publication type:

Article

Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1489

By:

Renström, Frida;
Payne, Felicity;
Nordström, Anna;
Brito, Ema C.;
Rolandsson, Olov;
Hallmans, Göran;
Barroso, Ines;
Nordström, Peter;
Franks, Paul W.

Publication type:

Article

Notch signaling contributes to the pathogenesis of human osteosarcomas.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1464, doi. 10.1093/hmg/ddp057

By:

Engin, Feyza;
Bertin, Terry;
Ma, Ou;
Jiang, Ming Ming;
Wang, Lisa;
Sutton, Richard E.;
Donehower, Lawrence A.;
Lee, Brendan

Publication type:

Article

Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1377, doi. 10.1093/hmg/ddp042

By:

Coppinger, Justine;
McDonald-McGinn, Donna;
Zackai, Elaine;
Shane, Kate;
Atkin, Joan F.;
Asamoah, Alexander;
Leland, Robert;
Weaver, David D.;
Lansky-Shafer, Susan;
Schmidt, Karen;
Feldman, Heidi;
Cohen, William;
Phalin, Judy;
Powell, Berkley;
Ballif, Blake C.;
Theisen, Aaron;
Geiger, Elizabeth;
Haldeman-Englert, Chad;
Shaikh, Tamim H.;
Saitta, Sulagna

Publication type:

Article

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1471, doi. 10.1093/hmg/ddp058

By:

Osborne, Robert J.;
Lin, Xiaoyan;
Welle, Stephen;
Sobczak, Krzysztof;
O'Rourke, Jason R.;
Swanson, Maurice S.;
Thornton, Charles A.

Publication type:

Article

Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1424, doi. 10.1093/hmg/ddp049

By:

Shiura, Hirosuke;
Nakamura, Kenji;
Hikichi, Takafusa;
Hino, Toshiaki;
Oda, Kanako;
Suzuki-Migishima, Rika;
Kohda, Takashi;
Kaneko-Ishino, Tomoko;
Ishino, Fumitoshi

Publication type:

Article

Depression Case Control (DeCC) Study fails to support involvement of the muscarinic acetylcholine receptor M2 (CHRM2) gene in recurrent major depressive disorder.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1504, doi. 10.1093/hmg/ddp051

By:

Cohen-Woods, Sarah;
Gaysina, Daria;
Craddock, Nick;
Farmer, Anne;
Gray, Joanna;
Gunasinghe, Cerisse;
Hoda, Farzana;
Jones, Lisa;
Knight, Jo;
Korszun, Ania;
Owen, Michael J.;
Sterne, Abram;
Craig, Ian W.;
McGuffin, Peter

Publication type:

Article

Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1439, doi. 10.1093/hmg/ddp054

By:

Zeschnigk, Michael;
Martin, Marcel;
Betzl, Gisela;
Kalbe, Andreas;
Sirsch, Caroline;
Buiting, Karin;
Gross, Stephanie;
Fritzilas, Epameinondas;
Frey, Bruno;
Rahmann, Sven;
Horsthemke, Bernhard

Publication type:

Article

Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1395, doi. 10.1093/hmg/ddp045

By:

Heaney, Jason D.;
Michelson, Megan V.;
Youngren, Kirsten K.;
Lam, Man-Yee J.;
Nadeau, Joseph H.

Publication type:

Article

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1510, doi. 10.1093/hmg/ddp052

By:

Timpson, Nicholas J.;
Tobias, Jon H.;
Richards, J. Brent;
Soranzo, Nicole;
Duncan, Emma L.;
Sims, Anne-Marie;
Whittaker, Pamela;
Kumanduri, Vasudev;
Zhai, Guangju;
Glaser, Beate;
Eisman, John;
Jones, Graeme;
Nicholson, Geoff;
Prince, Richard;
Seeman, Ego;
Spector, Tim D.;
Brown, Matthew A.;
Peltonen, Leena;
Smith, George Davey;
Deloukas, Panos

Publication type:

Article

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1544, doi. 10.1093/hmg/ddp056

By:

Little, Hayley J.;
Rorick, Nicholas K.;
Su, Ling-I;
Baldock, Clair;
Malhotra, Saimon;
Jowitt, Tom;
Gakhar, Lokesh;
Subramanian, Ramaswamy;
Schutte, Brian C.;
Dixon, Michael J.;
Shore, Paul

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 8, p. NP, doi. 10.1093/hmg/ddp139
Publication type:: Article

ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1533, doi. 10.1093/hmg/ddp060

By:

Birley, Andrew J.;
James, Michael R.;
Dickson, Peter A.;
Montgomery, Grant W.;
Heath, Andrew C.;
Martin, Nicholas G.;
Whitfield, John B.

Publication type:

Article

Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1384, doi. 10.1093/hmg/ddp044

By:

Cleveland, Don W.;
Yamanaka, Koji;
Bomont, Pascale

Publication type:

Article

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1482, doi. 10.1093/hmg/ddp061

By:

Farfel-Becker, Tamar;
Vitner, Einat;
Dekel, Hani;
Leshem, Noa;
Enquist, Ida Berglin;
Karlsson, Stefan;
Futerman, Anthony H.

Publication type:

Article

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1497

By:

Kirov, George;
Grozeva, Detelina;
Norton, Nadine;
Ivanov, Dobril;
Mantripragada, Kiran K.;
Holmans, Peter;
Craddock, Nick;
Owen, Michael J.;
O'Donovan, Michael C.

Publication type:

Article

Impairments in motor coordination without major changes in cerebellar plasticity in the Tc1 mouse model of Down syndrome.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 8, p. 1449, doi. 10.1093/hmg/ddp055

By:

Galante, Micaela;
Jani, Harsha;
Vanes, Lesley;
Daniel, Hervé;
Fisher, Elizabeth M.C.;
Tybulewicz, Victor L.J.;
Bliss, Timothy V.P.;
Morice, Elise

Publication type:

Article