Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 2

Results: 18

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 163, doi. 10.1093/hmg/10.2.163

By:

Eldadah, Zayd A.;
Hamosh, Ada;
Biery, Nancy J.;
Montgomery, Robert A.;
Duke, Melinda;
Elkins, Ronald;
Dietz, Harry C.

Publication type:

Article

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 99, doi. 10.1093/hmg/10.2.99

By:

Medghalchi, Susan M.;
Frischmeyer, Pamela A.;
Mendell, Joshua T.;
Kelly, Amy G.;
Lawler, Ann M.;
Dietz, Harry C.

Publication type:

Article

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153

By:

Everett, Lorraine A.;
Belyantseva, Inna A.;
Noben-Trauth, Konrad;
Cantos, Raquel;
Chen, Amy;
Thakkar, Sneha I.;
Hoogstraten-Miller, Shelley L.;
Kachar, Bechara;
Wu, Doris K.;
Green, Eric D.

Publication type:

Article

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 117, doi. 10.1093/hmg/10.2.117

By:

Jacobson, Nasreen;
Andrews, Michael;
Shepard, Allan R.;
Nishimura, Darryl;
Searby, Charles;
Fingert, John H.;
Hageman, Greg;
Mullins, Robert;
Davidson, Beverly L.;
Kwon, Young H.;
Alward, W. L. M.;
Stone, Edwin M.;
Clark, Abbot F.;
Sheffield, Val C.

Publication type:

Article

Impaired membrane traffic in defective ether lipid biosynthesis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 127, doi. 10.1093/hmg/10.2.127

By:

Thai, Thanh-Phuong;
Rodemer, Claus;
Jauch, Anna;
Hunziker, Andreas;
Moser, Ann;
Gorgas, Karin;
Just, Wilhelm W.

Publication type:

Article

Mouse models for the Wolf–Hirschhorn deletion syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 91, doi. 10.1093/hmg/10.2.91

By:

Näf, Dieter;
Wilson, Lawriston A.;
Bergstrom, Rebecca A.;
Smith, Richard S.;
Goodwin, Neal C.;
Verkerk, Annemieke;
van Ommen, Gert Jan;
Ackerman, Susan L.;
Frankel, Wayne N.;
Schimenti, John C.

Publication type:

Article

Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 107, doi. 10.1093/hmg/10.2.107

By:

Abel, Annette;
Walcott, Jessica;
Woods, JoAnne;
Duda, John;
Merry, Diane E.

Publication type:

Article

Impaired membrane traffic in defective ether lipid biosynthesis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 127, doi. 10.1093/hmg/10.2.127

By:

Thai, Thanh-Phuong;
Rodemer, Claus;
Jauch, Anna;
Hunziker, Andreas;
Moser, Ann;
Gorgas, Karin;
Just, Wilhelm W.

Publication type:

Article

Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington’s disease mutation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 145, doi. 10.1093/hmg/10.2.145

By:

Fain, John N.;
Del Mar, Nobel A.;
Meade, Christopher A.;
Reiner, Anton;
Goldowitz, Daniel

Publication type:

Article

Neurological abnormalities in a knock-in mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 137, doi. 10.1093/hmg/10.2.137

By:

Lin, Chin-Hsing;
Tallaksen-Greene, Sara;
Chien, Wei-Ming;
Cearley, Jamie A.;
Jackson, Walker S.;
Crouse, Andrew B.;
Ren, Songrong;
Li, Xiao-Jiang;
Albin, Roger L.;
Detloff, Peter J.

Publication type:

Article

Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington's disease mutation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 145, doi. 10.1093/hmg/10.2.145

By:

Fain, John N.

Publication type:

Article

Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 107, doi. 10.1093/hmg/10.2.107

By:

Abel, Annette;
Walcott, Jessica;
Woods, JoAnne;
Duda, John;
Merry, Diane E.

Publication type:

Article

Mouse models for the Wolf-Hirschhorn deletion syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 91, doi. 10.1093/hmg/10.2.91

By:

Näf, Dieter;
Wilson, Lawriston A.;
Bergstrom, Rebecca A.;
Smith, Richard S.;
Goodwin, Neal C.;
Verkerk, Annemieke;
van Ommen, Gert Jan;
Ackerman, Susan L.;
Frankel, Wayne N.;
Schimenti, John C.

Publication type:

Article

Neurological abnormalities in a knock-in mouse model of Huntington’s disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 137, doi. 10.1093/hmg/10.2.137

By:

Lin, Chin-Hsing;
Tallaksen-Greene, Sara;
Chien, Wei-Ming;
Cearley, Jamie A.;
Jackson, Walker S.;
Crouse, Andrew B.;
Ren, Songrong;
Li, Xiao-Jiang;
Albin, Roger L.;
Detloff, Peter J.

Publication type:

Article

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 117, doi. 10.1093/hmg/10.2.117

By:

Jacobson, Nasreen

Publication type:

Article

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 153, doi. 10.1093/hmg/10.2.153

By:

Everett, Lorraine A.;
Belyantseva, Inna A.;
Noben-Trauth, Konrad;
Cantos, Raquel;
Chen, Amy;
Thakkar, Sneha I.;
Hoogstraten-Miller, Shelley L.;
Kachar, Bechara;
Wu, Doris K.;
Green, Eric D.

Publication type:

Article

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 99, doi. 10.1093/hmg/10.2.99

By:

Medghalchi, Susan M.;
Frischmeyer, Pamela A.;
Kelly, Amy G.;
Lawler, Ann M.;
Dietz, Harry C.

Publication type:

Article

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 2, p. 163, doi. 10.1093/hmg/10.2.163

By:

Eldadah, Zayd A.;
Hamosh, Ada;
Biery, Nancy J.;
Montgomery, Robert A.;
Duke, Melinda;
Elkins, Ronald;
Dietz, Harry C.

Publication type:

Article