Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 9

Results: 10

Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 983, doi. 10.1093/hmg/ddh111

By:

Rodríguez-Perales, Sandra;
Meléndez, Bárbara;
Gribble, Susan M.;
Valle, Laura;
Carter, Nigel P.;
Santamaría, Iñigo;
Conde, Lucia;
Urioste, Miguel;
Benítez, Javier;
Cigudosa, Juan C.

Publication type:

Article

Genetic dissection of myocilin glaucoma.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 991, doi. 10.1093/hmg/ddh120

By:

Gong, Gordon;
Kosoko-Lasaki, Omofolasade;
Haynatzki, Gleb R.;
Wilson, M. Roy

Publication type:

Article

Polymorphisms at positions -22 and -348 in the promoter of the BAT1 gene affect transcription and the binding of nuclear factors.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 967, doi. 10.1093/hmg/ddh113

By:

Price, Patricia;
Wong, Agnes M.-L.;
Williamson, David;
Voon, Dominic;
Baltic, Svetlana;
Allcock, Richard J.N.;
Boodhoo, Alvin;
Christiansen, Frank T.

Publication type:

Article

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 905, doi. 10.1093/hmg/ddh112

By:

Schmidt, Andreas;
Marescau, Bart;
Boehm, Ernest A.;
Renema, W. Klaas Jan;
Peco, Ruben;
Das, Anib;
Steinfeld, Robert;
Chan, Sharon;
Wallis, Julie;
Davidoff, Michail;
Ullrich, Kurt;
Waldschütz, Ralph;
Heerschap, Arend;
De Deyn, Peter P.;
Neubauer, Stefan;
Isbrandt, Dirk

Publication type:

Article

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 945, doi. 10.1093/hmg/ddh110

By:

Reddy, M.A.;
Bateman, O.A.;
Chakarova, C.;
Ferris, J.;
Berry, V.;
Lomas, E.;
Sarra, R.;
Smith, M.A.;
Moore, A.T.;
Bhattacharya, S.S.;
Slingsby, C.

Publication type:

Article

Mitochondrial transcription factor A regulates mtDNA copy number in mammals.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 935, doi. 10.1093/hmg/ddh109

By:

Ekstrand, Mats I.;
Falkenberg, Maria;
Rantanen, Anja;
Park, Chan Bae;
Gaspari, Martina;
Hultenby, Kjell;
Rustin, Pierre;
Gustafsson, Claes M.;
Larsson, Nils-Göran

Publication type:

Article

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 923, doi. 10.1093/hmg/ddh108

By:

Fontanesi, Flavia;
Palmieri, Luigi;
Scarcia, Pasquale;
Lodi, Tiziana;
Donnini, Claudia;
Limongelli, Anna;
Tiranti, Valeria;
Zeviani, Massimo;
Ferrero, Iliana;
Viola, Anna Maria

Publication type:

Article

A mouse model for α-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 955, doi. 10.1093/hmg/ddh107

By:

Savolainen, Kalle;
Kotti, Tiina J.;
Schmitz, Werner;
Savolainen, Teuvo I.;
Sormunen, Raija T.;
Ilves, Mika;
Vainio, Seppo J.;
Conzelmann, Ernst;
Hiltunen, J. Kalervo

Publication type:

Article

A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 975, doi. 10.1093/hmg/ddh106

By:

Fossdal, Ragnheidur;
Jonasson, Fridbert;
Kristjansdottir, Gudlaug T.;
Kong, Augustine;
Stefansson, Hreinn;
Gosh, Shyamali;
Gulcher, Jeffrey R.;
Stefansson, Kari

Publication type:

Article

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 9, p. 893, doi. 10.1093/hmg/ddh105

By:

Sangkuhl, Katrin;
Schulz, Angela;
Römpler, Holger;
Yun, June;
Wess, Jürgen;
Schöneberg, Torsten

Publication type:

Article