Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 19

Results: 16

A recurrent deletion in the ubiquitously expressed NEMO (IKK- γ ) gene accounts for the vast majority of incontinentia pigmenti mutations.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2171, doi. 10.1093/hmg/10.19.2171
By:
- Aradhya, Swaroop;
- Woffendin, Hayley;
- Jakins, Tracy;
- Bardaro, Tiziana;
- Esposito, Teresa;
- Smahi, Asmae;
- Shaw, Christine;
- Levy, Moise;
- Munnich, Arnold;
- D’Urso, Michele;
- Lewis, Richard A.;
- Kenwrick, Sue;
- Nelson, David L.
Publication type:
Article
Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2013, doi. 10.1093/hmg/10.19.2013
By:
- Oeda, Tomoko;
- Shimohama, Shun;
- Kitagawa, Naoyuki;
- Kohno, Ryuichi;
- Imura, Tetsuya;
- Shibasaki, Hiroshi;
- Ishii, Naoaki
Publication type:
Article
Genetic variation in the human urea transporter-2 is associated with variation in blood pressure.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2157, doi. 10.1093/hmg/10.19.2157
By:
- Ranade, Koustubh;
- Wu, Kwan-Dun;
- Hwu, Chii-Min;
- Ting, Chih-Tai;
- Pei, Dee;
- Pesich, Robert;
- Hebert, Joan;
- Chen, Yii-Der I.;
- Pratt, Richard;
- Olshen, Richard;
- Masaki, Kamal;
- Risch, Neil;
- Cox, David R.;
- Botstein, David
Publication type:
Article
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2123, doi. 10.1093/hmg/10.19.2123
By:
- Luiro, Kaisu;
- Kopra, Outi;
- Lehtovirta, Maarit;
- Jalanko, Anu
Publication type:
Article
Detecting differentially expressed genes in multiple tag sampling experiments: comparative evaluation of statistical tests.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2133, doi. 10.1093/hmg/10.19.2133
By:
- Romualdi, C.;
- Bortoluzzi, S.;
- Danieli, G.A.
Publication type:
Article
Rabies virus glycoprotein pseudotyping of lentiviral vectors enables retrograde axonal transport and access to the nervous system after peripheral delivery.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2109, doi. 10.1093/hmg/10.19.2109
By:
- Mazarakis, Nicholas D.;
- Azzouz, Mimoun;
- Rohll, Jonathan B.;
- Ellard, Fiona M.;
- Wilkes, Fraser J.;
- Olsen, Anna L.;
- Carter, Emma E.;
- Barber, Robert D.;
- Baban, Dilair F.;
- Kingsman, Susan M.;
- Kingsman, Alan J.;
- O’Malley, Karen;
- Mitrophanous, Kyriacos A.
Publication type:
Article
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2143, doi. 10.1093/hmg/10.19.2143
By:
- Sergeant, Nicolas;
- Sablonnière, Bernard;
- Schraen-Maschke, Suzanna;
- Ghestem, Antoine;
- Maurage, Claude-Alain;
- Wattez, Annick;
- Vermersch, Patrick;
- Delacourte, André
Publication type:
Article
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2049, doi. 10.1093/hmg/10.19.2049
By:
- Kleinjan, Dirk A.;
- Seawright, Anne;
- Schedl, Andreas;
- Quinlan, Roy A;
- Danes, Sarah;
- Heyningen, Veronica van
Publication type:
Article
A distant upstream promoter of the HNF-4 α gene connects the transcription factors involved in maturity-onset diabetes of the young.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2089, doi. 10.1093/hmg/10.19.2089
By:
- Thomas, Heike;
- Jaschkowitz, Karin;
- Bulman, Mike;
- Frayling, Timothy M.;
- Mitchell, Simon M.S.;
- Roosen, Simone;
- Lingott-Frieg, Anja;
- Tack, Cees J.;
- Ellard, Sian;
- Ryffel, Gerhart U.;
- Hattersley, Andrew T.
Publication type:
Article
Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2061, doi. 10.1093/hmg/10.19.2061
By:
- Chantrel-Groussard, Karine;
- Geromel, Vanna;
- Puccio, Hélène;
- Koenig, Michel;
- Munnich, Arnold;
- Rötig, Agnès;
- Rustin, Pierre
Publication type:
Article
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2165, doi. 10.1093/hmg/10.19.2165
By:
- Mankodi, Ami;
- Urbinati, Carl R.;
- Yuan, Qiu-Ping;
- Moxley, Richard T;
- Sansone, Valeria;
- Krym, Matt;
- Henderson, Donald;
- Schalling, Martin;
- Swanson, Maurice S.;
- Thornton, Charles A.
Publication type:
Article
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2099, doi. 10.1093/hmg/10.19.2099
By:
- Tan, Guolin;
- Chen, Li-Sheng;
- Lonnerdal, Bo;
- Gellera, Cinzia;
- Taroni, Franco A.;
- Cortopassi, Gino A.
Publication type:
Article
Conditional tissue-specific expression of the acid α -glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2039, doi. 10.1093/hmg/10.19.2039
By:
- Raben, N.;
- Lu, N.;
- Nagaraju, K.;
- Rivera, Y.;
- Lee, A.;
- Yan, B.;
- Byrne, B.;
- Meikle, P.J.;
- Umapathysivam, K.;
- Hopwood, J.J.;
- Plotz, P.H.
Publication type:
Article
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2069, doi. 10.1093/hmg/10.19.2069
By:
- Cox, Keith B.;
- Hamm, Doug A.;
- Millington, David S.;
- Matern, Dietrich;
- Vockley, Jerry;
- Rinaldo, Piero;
- Pinkert, Carl A.;
- Rhead, William J.;
- Lindsey, J. Russell;
- Wood, Philip A.
Publication type:
Article
A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2025, doi. 10.1093/hmg/10.19.2025
By:
- Cucca, Francesco;
- Lampis, Rosannna;
- Congia, Mauro;
- Angius, Efisio;
- Nutland, Sarah;
- Bain, Stephen C.;
- Barnett, Anthony H.;
- Todd, John A.
Publication type:
Article
Defective satellite cells in congenital myotonic dystrophy.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 19, p. 2079, doi. 10.1093/hmg/10.19.2079
By:
- Furling, D.;
- Coiffier, L.;
- Mouly, V.;
- Barbet, J.P.;
- Lacau St Guily, J.;
- Taneja, K.;
- Junien, C.;
- Butler-Browne, G.S.
Publication type:
Article