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Stat5 constitutive activation rescues defects in spinal muscular atrophy.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 499, doi. 10.1093/hmg/ddl482
By:
- Ting, Chen-Hung;
- Lin, Chiao-Wei;
- Wen, Shin-Lan;
- Hsieh-Li, Hsiu-Mei;
- Li, Hung
Publication type:
Article
Loss of functional ELOVL4 depletes very long-chain fatty acids (≥C28) and the unique ω-O-acylceramides in skin leading to neonatal death.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 471, doi. 10.1093/hmg/ddl480
By:
- Vasireddy, Vidyullatha;
- Uchida, Yoshikazu;
- Salem, Norman;
- Kim, Soo Yeon;
- Mandal, Md Nawajesh Ali;
- Reddy, Geereddy Bhanuprakash;
- Bodepudi, Ravi;
- Alderson, Nathan L.;
- Brown, Johnie C.;
- Hama, Hiroko;
- Dlugosz, Andrzej;
- Elias, Peter M.;
- Holleran, Walter M.;
- Ayyagari, Radha
Publication type:
Article
A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 573, doi. 10.1093/hmg/ddm017
By:
- Bogdanova, Nadia;
- Horst, Jürgen;
- Chlystun, Marcin;
- Croucher, Peter J.P.;
- Nebel, Almut;
- Bohring, Axel;
- Todorova, Albena;
- Schreiber, Stefan;
- Gerke, Volker;
- Krawczak, Michael;
- Markoff, Arseni
Publication type:
Article
Extreme context specificity in differential allelic expression.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 537, doi. 10.1093/hmg/ddl488
By:
- Wilkins, James M.;
- Southam, Lorraine;
- Price, Andrew J.;
- Mustafa, Zehra;
- Carr, Andrew;
- Loughlin, John
Publication type:
Article
Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 483, doi. 10.1093/hmg/ddl481
By:
- Chiang, Ming-Chang;
- Chen, Hui-Mei;
- Lee, Yi-Hsin;
- Chang, Hao-Hung;
- Wu, Yi-Chih;
- Soong, Bing-Wen;
- Chen, Chiung-Mei;
- Wu, Yih-Ru;
- Liu, Chin-San;
- Niu, Dau-Ming;
- Wu, Jer-Yuarn;
- Chen, Yuan-Tsong;
- Chern, Yijuang
Publication type:
Article
Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 529, doi. 10.1093/hmg/ddl485
By:
- Massey-Harroche, Dominique;
- Delgrossi, Marie-Hélène;
- Lane-Guermonprez, Lydie;
- Arsanto, Jean-Pierre;
- Borg, Jean-Paul;
- Billaud, Marc;
- Le Bivic, André
Publication type:
Article
Heritable rather than age-related environmental and stochastic factors dominate variation in DNA methylation of the human IGF2/H19 locus.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 547, doi. 10.1093/hmg/ddm010
By:
- Heijmans, Bastiaan T.;
- Kremer, Dennis;
- Tobi, Elmar W.;
- Boomsma, Dorret I.;
- Slagboom, P. Eline
Publication type:
Article
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz–Jampel syndrome.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 515, doi. 10.1093/hmg/ddl484
By:
- Rodgers, Kathryn D.;
- Sasaki, Takako;
- Aszodi, Attila;
- Jacenko, Olena
Publication type:
Article
Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 555, doi. 10.1093/hmg/ddm011
By:
- Blard, Olivier;
- Feuillette, Sébastien;
- Bou, Jacqueline;
- Chaumette, Boris;
- Frébourg, Thierry;
- Campion, Dominique;
- Lecourtois, Magalie
Publication type:
Article
Characterization of a recurrent 15q24 microdeletion syndrome.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
By:
- Sharp, Andrew J.;
- Selzer, Rebecca R.;
- Veltman, Joris A.;
- Gimelli, Stefania;
- Gimelli, Giorgio;
- Striano, Pasquale;
- Coppola, Antonietta;
- Regan, Regina;
- Price, Sue M.;
- Knoers, Nine V.;
- Eis, Peggy S.;
- Brunner, Han G.;
- Hennekam, Raoul C.;
- Knight, Samantha J.L.;
- de Vries, Bert B.A.;
- Zuffardi, Orsetta;
- Eichler, Evan E.
Publication type:
Article
Human SULT1A1 gene: copy number differences and functional implications.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 463, doi. 10.1093/hmg/ddl468
By:
- Hebbring, Scott J.;
- Adjei, Araba A.;
- Baer, Janel L.;
- Jenkins, Gregory D.;
- Zhang, Jianping;
- Cunningham, Julie M.;
- Schaid, Daniel J.;
- Weinshilboum, Richard M.;
- Thibodeau, Stephen N.
Publication type:
Article
Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 5, p. 453, doi. 10.1093/hmg/ddl462
By:
- Hennah, William;
- Tomppo, Liisa;
- Hiekkalinna, Tero;
- Palo, Outi M.;
- Kilpinen, Helena;
- Ekelund, Jesper;
- Tuulio-Henriksson, Annamari;
- Silander, Kaisa;
- Partonen, Timo;
- Paunio, Tiina;
- Terwilliger, Joseph D.;
- Lönnqvist, Jouko;
- Peltonen, Leena
Publication type:
Article

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