Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 12

Results: 9

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1387, doi. 10.1002/humu.20835

By:

Behar, Doron M.;
Blue-Smith, Jason;
Soria-Hernanz, David F.;
Tzur, Shay;
Hadid, Yarin;
Bormans, Concetta;
Moen, Alexander;
Tyler-Smith, Chris;
Quintana-Murci, Lluis;
Wells, R. Spencer

Publication type:

Article

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1392, doi. 10.1002/humu.20783

By:

McKnight, Dianalee A.;
Suzanne Hart, P.;
Hart, Thomas C.;
Hartsfield, James K.;
Wilson, Anne;
Wright, J. Timothy;
Fisher, Larry W.

Publication type:

Article

Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms.

Published in:

2008

By:

Mead, Simon;
Poulter, Mark;
Beck, John;
Uphill, James;
Jones, Chris;
Ang, Cheng Eng;
Mein, Charles A.;
Collinge, John

Publication type:

Other

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1425, doi. 10.1002/humu.20797

By:

Kutz, Wendy E.;
Wang, Lauren W.;
Dagoneau, Nathalie;
Odrcic, Kazimir J.;
Cormier-Daire, Valerie;
Traboulsi, Elias I.;
Apte, Suneel S.

Publication type:

Article

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update.

Published in:

2008

By:

Gijselinck, I.;
Van Broeckhoven, C.;
Cruts, M.

Publication type:

Other

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1412, doi. 10.1002/humu.20796

By:

Tournier, Isabelle;
Vezain, Myriam;
Martins, Alexandra;
Charbonnier, Françoise;
Baert-Desurmont, Stéphanie;
Olschwang, Sylviane;
Wang, Qing;
Buisine, Marie Pierre;
Soret, Johann;
Tazi, Jamal;
Frébourg, Thierry;
Tosi, Mario

Publication type:

Article

Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1443, doi. 10.1002/humu.20803

By:

Li, Chunying;
Zhao, Hui;
Hu, Zhibin;
Liu, Zhensheng;
Wang, Li-E;
Gershenwald, Jeffrey E.;
Prieto, Victor G.;
Lee, Jeffrey E.;
Duvic, Madeleine;
Grimm, Elizabeth A.;
Wei, Qingyi

Publication type:

Article

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1405, doi. 10.1002/humu.20795

By:

Mou, Chunyan;
Thomason, Helen A.;
Willan, Pamela M.;
Clowes, Christopher;
Harris, W. Edwin;
Drew, Caroline F.;
Dixon, Jill;
Dixon, Michael J.;
Headon, Denis J.

Publication type:

Article

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Published in:

Human Mutation, 2008, v. 29, n. 12, p. 1435, doi. 10.1002/humu.20799

By:

Baldridge, Dustin;
Schwarze, Ulrike;
Morello, Roy;
Lennington, Jennifer;
Bertin, Terry K.;
Pace, James M.;
Pepin, Melanie G.;
Weis, MaryAnn;
Eyre, David R.;
Walsh, Jennifer;
Lambert, Deborah;
Green, Andrew;
Robinson, Haynes;
Michelson, Melonie;
Houge, Gunnar;
Lindman, Carl;
Martin, Judith;
Ward, Jewell;
Lemyre, Emmanuelle;
Mitchell, John J.

Publication type:

Article