Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 10

Results: 20

Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1719, doi. 10.1093/hmg/ddp075

By:

Patterson, Victoria L.;
Damrau, Christine;
Paudyal, Anju;
Reeve, Benjamin;
Grimes, Daniel T.;
Stewart, Michelle E.;
Williams, Debbie J.;
Siggers, Pam;
Greenfield, Andy;
Murdoch, Jennifer N.

Publication type:

Article

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1893, doi. 10.1093/hmg/ddp083

By:

Bodian, Dale L.;
Chan, Ting-Fung;
Poon, Annie;
Schwarze, Ulrike;
Yang, Kathleen;
Byers, Peter H.;
Kwok, Pui-Yan;
Klein, Teri E.

Publication type:

Article

A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1755, doi. 10.1093/hmg/ddp088

By:

El-Maarri, Osman;
Kareta, Michael S.;
Mikeska, Thomas;
Becker, Tim;
Diaz-Lacava, Amalia;
Junen, Judith;
Nüsgen, Nicole;
Behne, Frank;
Wienker, Thomas;
Waha, Andreas;
Oldenburg, Johannes;
Chédin, Frédéric

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 10, p. NP, doi. 10.1093/hmg/ddp153
Publication type:: Article

Requirement for Shh and Fox family genes at different stages in sweat gland development.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1769, doi. 10.1093/hmg/ddp089

By:

Kunisada, Makoto;
Cui, Chang-Yi;
Piao, Yulan;
Ko, Minoru S.H.;
Schlessinger, David

Publication type:

Article

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1860, doi. 10.1093/hmg/ddp102

By:

Goffrini, Paola;
Ercolino, Tonino;
Panizza, Elena;
Giachè, Valentino;
Cavone, Leonardo;
Chiarugi, Alberto;
Dima, Veronica;
Ferrero, Iliana;
Mannelli, Massimo

Publication type:

Article

PGC-1α/β induced expression partially compensates for respiratory chain defects in cells from patients with mitochondrial disorders.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1805, doi. 10.1093/hmg/ddp093

By:

Srivastava, Sarika;
Diaz, Francisca;
Iommarini, Luisa;
Aure, Karine;
Lombes, Anne;
Moraes, Carlos T.

Publication type:

Article

Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1839, doi. 10.1093/hmg/ddp100

By:

Stanford, Janet L.;
FitzGerald, Liesel M.;
McDonnell, Shannon K.;
Carlson, Erin E.;
McIntosh, Laura M.;
Deutsch, Kerry;
Hood, Lee;
Ostrander, Elaine A.;
Schaid, Daniel J.

Publication type:

Article

Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1889, doi. 10.1093/hmg/ddp109

By:

Carvajal-Carmona, Luis G.;
Spain, Sarah;
Kerr, David;
Houlston, Richard;
Cazier, Jean-Baptiste;
Tomlinson, Ian

Publication type:

Article

Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1813, doi. 10.1093/hmg/ddp098

By:

Sund, Kristen Lipscomb;
Roelker, Stephanie;
Ramachandran, Vijaya;
Durbin, Lisa;
Benson, D. Woodrow

Publication type:

Article

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1795, doi. 10.1093/hmg/ddp092

By:

Cuscó, Ivon;
Medrano, Andrés;
Gener, Blanca;
Vilardell, Mireia;
Gallastegui, Fátima;
Villa, Olaya;
González, Eva;
Rodríguez-Santiago, Benjamín;
Vilella, Elisabet;
Del Campo, Miguel;
Pérez-Jurado, Luis A.

Publication type:

Article

Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1740, doi. 10.1093/hmg/ddp113

By:

Norman, Ryan X.;
Ko, Hyuk W.;
Huang, Viola;
Eun, Christine M.;
Abler, Lisa L.;
Zhang, Zhen;
Sun, Xin;
Eggenschwiler, Jonathan T.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 10, p. NP, doi. 10.1093/hmg/ddp156
Publication type:: Article

γ-Synucleinopathy: neurodegeneration associated with overexpression of the mouse protein.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1779, doi. 10.1093/hmg/ddp090

By:

Ninkina, Natalia;
Peters, Owen;
Millership, Steven;
Salem, Hatem;
van der Putten, Herman;
Buchman, Vladimir L.

Publication type:

Article

Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1849, doi. 10.1093/hmg/ddp101

By:

Chartier, Aymeric;
Raz, Vered;
Sterrenburg, Ellen;
Verrips, C. Theo;
van der Maarel, Silvère M.;
Simonelig, Martine

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 10, p. NP, doi. 10.1093/hmg/ddp154
Publication type:: Article

Deletion of Gtl2, imprinted non-coding RNA, with its differentially methylated region induces lethal parent-origin-dependent defects in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1879, doi. 10.1093/hmg/ddp108

By:

Takahashi, Nozomi;
Okamoto, Akira;
Kobayashi, Ryota;
Shirai, Motomu;
Obata, Yayoi;
Ogawa, Hidehiko;
Sotomaru, Yusuke;
Kono, Tomohiro

Publication type:

Article

Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1869, doi. 10.1093/hmg/ddp107

By:

Quaye, Lydia;
Dafou, Dimitra;
Ramus, Susan J.;
Song, Honglin;
Maharaj, Aleksandra Gentry;
Notaridou, Maria;
Hogdall, Estrid;
Kjaer, Susanne Kruger;
Christensen, Lise;
Hogdall, Claus;
Easton, Douglas F.;
Jacobs, Ian;
Menon, Usha;
Pharoah, Paul D.P.;
Gayther, Simon A.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 10, p. NP, doi. 10.1093/hmg/ddp155
Publication type:: Article

SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 10, p. 1825, doi. 10.1093/hmg/ddp099

By:

Guthrie, Chris R.;
Schellenberg, Gerard D.;
Kraemer, Brian C.

Publication type:

Article