Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 18

Results: 12

Founder TIGR/myocilin mutations for glaucoma in the Québec population.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2077, doi. 10.1093/hmg/11.18.2077

By:

Faucher, Mathieu;
Anctil, Jean-Louis;
Rodrigue, Marc-André;
Duchesne, Annie;
Bergeron, Dan;
Blondeau, Pierre;
Côté, Gilles;
Dubois, Stéphane;
Bergeron, Josée;
Arseneault, Rose;
Morissette, Jean;
Raymond, Vincent

Publication type:

Article

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2175, doi. 10.1093/hmg/11.18.2175

By:

Sharma, Rajesh;
Bhatti, Saeeda;
Gomez, Mariluz;
Clark, Rhonda M.;
Murray, Cynthia;
Ashizawa, Tetsuo;
Bidichandani, Sanjay I.

Publication type:

Article

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2129, doi. 10.1093/hmg/11.18.2129

By:

Persaud-Sawin, Dixie-Ann N. W.;
VanDongen, Antonius;
Boustany, Rose-Mary N.

Publication type:

Article

ζ-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2147, doi. 10.1093/hmg/11.18.2147

By:

Wheeler, Matthew T.;
Zarnegar, Sara;
McNally, Elizabeth M.

Publication type:

Article

Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2155, doi. 10.1093/hmg/11.18.2155

By:

Sun, Mao-Sen;
Pan, Chi-Jiunn;
Shieh, Jeng-Jer;
Ghosh, Abhijit;
Chen, Li-Yuan;
Mansfield, Brian C.;
Ward, Jerrold M.;
Byrne, Barry J.;
Chou, Janice Yang

Publication type:

Article

Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2189, doi. 10.1093/hmg/11.18.2189

By:

Mohindra, Atul;
Hays, Laura E.;
Phillips, Eric N.;
Preston, Bradley D.;
Helleday, Thomas;
Meuth, Mark

Publication type:

Article

Identification of the autoantigen SART-1 as a candidate gene for the development of atopy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2143, doi. 10.1093/hmg/11.18.2143

By:

Wheatley, Amanda P.;
Bolland, Daniel J.;
Hewitt, Jane E.;
Dewar, Jane C.;
Hall, Ian P.

Publication type:

Article

Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2165, doi. 10.1093/hmg/11.18.2165

By:

Bihoreau, Marie-Thérèse;
Megel, Natalia;
Brown, Joanna H.;
Kränzlin, Bettina;
Crombez, Laurence;
Tychinskaya, Yulia;
Broxholme, John;
Kratz, Susanne;
Bergmann, Volker;
Hoffman, Sigrid;
Gauguier, Dominique;
Gretz, Norbert

Publication type:

Article

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2113, doi. 10.1093/hmg/11.18.2113

By:

Loeys, Bart;
Van Maldergem, Lionel;
Mortier, Geert;
Coucke, Paul;
Gerniers, Sabine;
Naeyaert, Jean-Marie;
De Paepe, Anne

Publication type:

Article

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2119, doi. 10.1093/hmg/11.18.2119

By:

Cundy, Tim;
Hegde, Madhuri;
Naot, Dorit;
Chong, Belinda;
King, Alan;
Wallace, Robyn;
Mulley, John;
Love, Donald R.;
Seidel, Joerg;
Fawkner, Matthew;
Banovic, Tatjana;
Callon, Karen E.;
Grey, Andrew B.;
Reid, Ian R.;
Middleton-Hardie, Catherine A.;
Cornish, Jillian

Publication type:

Article

A mouse model of spinal and bulbar muscular atrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2103, doi. 10.1093/hmg/11.18.2103

By:

McManamny, Patrick;
Chy, Hun S.;
Finkelstein, David I.;
Craythorn, Rebecca G.;
Crack, Peter J.;
Kola, Ismail;
Cheema, Surindar S.;
Horne, Malcolm K.;
Wreford, Nigel G.;
O'Bryan, Moira K.;
de Kretser, David M.;
Morrison, John R.

Publication type:

Article

Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 18, p. 2091, doi. 10.1093/hmg/11.18.2091

By:

Tao, Qian;
Huang, He;
Geiman, Theresa M.;
Lim, Chai Yen;
Fu, Li;
Qiu, Guo-Hua;
Robertson, Keith D.

Publication type:

Article