Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 15

Results: 23

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Published in:: Human Molecular Genetics, 2009, v. 18, n. 15, p. NP, doi. 10.1093/hmg/ddp270
Publication type:: Article

Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2839, doi. 10.1093/hmg/ddp219

By:

Downes, Meredith;
François, Mathias;
Ferguson, Charles;
Parton, Robert G.;
Koopman, Peter

Publication type:

Article

Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2912, doi. 10.1093/hmg/ddp229

By:

Kilpinen, Helena;
Ylisaukko-oja, Tero;
Rehnström, Karola;
Gaál, Emilia;
Turunen, Joni A.;
Kempas, Elli;
von Wendt, Lennart;
Varilo, Teppo;
Peltonen, Leena

Publication type:

Article

Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2899, doi. 10.1093/hmg/ddp227

By:

Dobrowolski, Radoslaw;
Hertig, Gerda;
Lechner, Hildegard;
Wörsdörfer, Philipp;
Wulf, Volker;
Dicke, Nikolai;
Eckert, Dawid;
Bauer, Reinhard;
Schorle, Hubert;
Willecke, Klaus

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. 15, p. 2928, doi. 10.1093/hmg/ddp234

By:

Quaye, Lydia;
Dafou, Dimitra;
Ramus, Susan J.;
Song, Honglin;
Gentry-Maharaj, Aleksandra;
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

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2802, doi. 10.1093/hmg/ddp215

By:

Massinen, Satu;
Tammimies, Kristiina;
Tapia-Páez, Isabel;
Matsson, Hans;
Hokkanen, Marie-Estelle;
Söderberg, Ola;
Landegren, Ulf;
Castrén, Eero;
Gustafsson, Jan-Åke;
Treuter, Eckardt;
Kere, Juha

Publication type:

Article

PDK1 signaling in oocytes controls reproductive aging and lifespan by manipulating the survival of primordial follicles.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2813, doi. 10.1093/hmg/ddp217

By:

Reddy, Pradeep;
Adhikari, Deepak;
Zheng, Wenjing;
Liang, Shawn;
Hämäläinen, Tuula;
Tohonen, Virpi;
Ogawa, Wataru;
Noda, Tetsuo;
Volarevic, Sinisa;
Huhtaniemi, Ilpo;
Liu, Kui

Publication type:

Article

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2768, doi. 10.1093/hmg/ddp212

By:

Sabbagh, Audrey;
Pasmant, Eric;
Laurendeau, Ingrid;
Parfait, Béatrice;
Barbarot, Sébastien;
Guillot, Bernard;
Combemale, Patrick;
Ferkal, Salah;
Vidaud, Michel;
Aubourg, Patrick;
Vidaud, Dominique;
Wolkenstein, Pierre

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 15, p. NP, doi. 10.1093/hmg/ddp268
Publication type:: Article

Defective pulmonary vascular remodeling in Smad8 mutant mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2791, doi. 10.1093/hmg/ddp214

By:

Huang, Zheng;
Wang, Degang;
Ihida-Stansbury, Kaori;
Jones, Peter Lloyd;
Martin, James F.

Publication type:

Article

Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2729, doi. 10.1093/hmg/ddp205

By:

Jin, Huilin;
van't Hof, Rob J.;
Albagha, Omar M.E.;
Ralston, Stuart H.

Publication type:

Article

DNA hypomethylation restricted to the murine forebrain induces cortical degeneration and impairs postnatal neuronal maturation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2875, doi. 10.1093/hmg/ddp222

By:

Hutnick, Leah K.;
Golshani, Peyman;
Namihira, Masakasu;
Xue, Zhigang;
Matynia, Anna;
Yang, X. William;
Silva, Alcino J.;
Schweizer, Felix E.;
Fan, Guoping

Publication type:

Article

CADASIL mutations enhance spontaneous multimerization of NOTCH3.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2761, doi. 10.1093/hmg/ddp211

By:

Opherk, Christian;
Duering, Marco;
Peters, Nils;
Karpinska, Anna;
Rosner, Stefanie;
Schneider, Elisabeth;
Bader, Benedikt;
Giese, Armin;
Dichgans, Martin

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 15, p. NP, doi. 10.1093/hmg/ddp269
Publication type:: Article

Positional identification of variants of Adamts16 linked to inherited hypertension.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2825, doi. 10.1093/hmg/ddp218

By:

Joe, Bina;
Saad, Yasser;
Lee, Norman H.;
Frank, Bryan C.;
Achinike, Ovokeraye H.;
Luu, Truong V.;
Gopalakrishnan, Kathirvel;
Toland, Edward J.;
Farms, Phyllis;
Yerga-Woolwine, Shane;
Manickavasagam, Ezhilarasi;
Rapp, John P.;
Garrett, Michael R.;
Coe, David;
Apte, Suneel S.;
Rankinen, Tuomo;
Pérusse, Louis;
Ehret, Georg B.;
Ganesh, Santhi K.;
Cooper, Richard S.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 15, p. NP, doi. 10.1093/hmg/ddp267
Publication type:: Article

A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2922, doi. 10.1093/hmg/ddp216

By:

Freathy, Rachel M.;
Ring, Susan M.;
Shields, Beverley;
Galobardes, Bruna;
Knight, Beatrice;
Weedon, Michael N.;
Smith, George Davey;
Frayling, Timothy M.;
Hattersley, Andrew T.

Publication type:

Article

Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation†.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2748, doi. 10.1093/hmg/ddp210

By:

Geng, Ruishuang;
Geller, Scott F.;
Hayashi, Toshinori;
Ray, Catherine A.;
Reh, Thomas A.;
Bermingham-McDonogh, Olivia;
Jones, Sherri M.;
Wright, Charles G.;
Melki, Sami;
Imanishi, Yoshikazu;
Palczewski, Krzysztof;
Alagramam, Kumar N.;
Flannery, John G.

Publication type:

Article

Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2779, doi. 10.1093/hmg/ddp213

By:

Heidrych, Paulina;
Zimmermann, Ulrike;
Kuhn, Stephanie;
Franz, Christoph;
Engel, Jutta;
Duncker, Susanne V.;
Hirt, Bernhard;
Pusch, Carsten M.;
Ruth, Peter;
Pfister, Markus;
Marcotti, Walter;
Blin, Nikolaus;
Knipper, Marlies

Publication type:

Article

Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2851, doi. 10.1093/hmg/ddp220

By:

Lobo, Glenn P.;
Waite, Kristin A.;
Planchon, Sarah M.;
Romigh, Todd;
Nassif, Najah T.;
Eng, Charis

Publication type:

Article

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2863, doi. 10.1093/hmg/ddp221

By:

Wang, Ying;
Groppe, Jay C.;
Wu, Jingfeng;
Ogawa, Takuya;
Mues, Gabriele;
D'Souza, Rena N.;
Kapadia, Hitesh

Publication type:

Article

AIP-1 ameliorates β-amyloid peptide toxicity in a Caenorhabditis elegans Alzheimer's disease model.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2739, doi. 10.1093/hmg/ddp209

By:

Hassan, Wail M.;
Merin, David A.;
Fonte, Virginia;
Link, Christopher D.

Publication type:

Article

Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 15, p. 2889, doi. 10.1093/hmg/ddp226

By:

Kucharczyk, Roza;
Salin, Bénédicte;
di Rago, J.-P.

Publication type:

Article