Works matching IS 03406717 AND DT 2004 AND VI 115 AND IP 2

Results: 14

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3

By:

Luijendijk, Mirjam W. J.;
van Wijk, Erwin;
Bischoff, Anne M. L. C.;
Krieger, Elmar;
Huygen, Patrick L. M.;
Pennings, Ronald J. E.;
Brunner, Han G.;
Cremers, Cor W. R. J.;
Cremers, Frans P. M.;
Kremer, Hannie

Publication type:

Article

Does haplotype diversity predict power for association mapping of disease susceptibility?

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 157, doi. 10.1007/s00439-004-1122-x

By:

Zhang, Weihua;
Collins, Andrew;
Morton, Newton E.

Publication type:

Article

Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 116, doi. 10.1007/s00439-004-1120-z

By:

Goidts, Violaine;
Szamalek, Justyna M.;
Hameister, Horst;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 123, doi. 10.1007/s00439-004-1124-8

By:

Brown, Ruth M.;
Head, Rosemary A.;
Boubriak, Ivan I.;
Leonard, James V.;
Thomas, Neil H.;
Brown, Garry K.

Publication type:

Article

Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 128, doi. 10.1007/s00439-004-1126-6

By:

Deffenbacher, Karen E.;
Kenyon, Judith B.;
Hoover, Denise M.;
Olson, Richard K.;
Pennington, Bruce F.;
DeFries, John C.;
Smith, Shelley D.

Publication type:

Article

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 104, doi. 10.1007/s00439-004-1127-5

By:

Mann, S. M.;
Wang, N. J.;
Liu, D. H.;
Wang, L.;
Schultz, R. A.;
Dorrani, N.;
Sigman, M.;
Schanen, N. C.

Publication type:

Article

Somatic mutations of CASP3 gene in human cancers.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 112, doi. 10.1007/s00439-004-1129-3

By:

Soung, Young Hwa;
Lee, Jong Woo;
Kim, Su Young;
Park, Won Sang;
Nam, Suk Woo;
Lee, Jung Young;
Yoo, Nam Jin;
Lee, Sug Hyung

Publication type:

Article

Lexikon der Syndrome und Fehlbildungen. Ursachen, Genetik, Risiken (2003): R. Witkowski, O. Prokop, E. Ullrich, G. Thiel: 7. Auflage, Springer-Verlag Berlin-Heidelberg-New York, ISBN 3-540-44305-3, hardcover, 1347 pages, 124.95 Euro.

Published in:

2004

By:

Passarge, Eberhard

Publication type:

Book Review

Myotonic dystrophy: present management, future therapy (2004): P.S. Harper, B.G.M. van Engelen, B. Eymard, D.E. Wilcox (Editors): 1st edition, Oxford University Press, Oxford, ISBN 0198-52782-9, hardcover, £55.

Published in:

2004

By:

Schneider-Gold, Christiane

Publication type:

Book Review

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 139, doi. 10.1007/s00439-004-1134-6

By:

Tonkin, Emma T.;
Smith, Melanie;
Eichhorn, Piet;
Jones, Sandie;
Imamwerdi, Burhan;
Lindsay, Susan;
Jackson, Mike;
Wang, Tzu-Jou;
Ireland, Maggie;
Burn, John;
Krantz, Ian D.;
Carr, Philippa;
Strachan, Tom

Publication type:

Article

Increased amount of the angiotensin-converting enzyme (ACE) mRNA originating from the ACE allele with deletion.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 91, doi. 10.1007/s00439-004-1136-4

By:

Suehiro, Tadashi;
Morita, Tatsuhito;
Inoue, Mari;
Kumon, Yoshitaka;
Ikeda, Yukio;
Hashimoto, Kozo

Publication type:

Article

Human evolutionary genetics: origins, peoples, and disease (2004): M.A. Jobling, M.E. Hurles and C. Tyler-Smith: Garland Science, ISBN 0-8153-4885-7, paperback.

Published in:

2004

By:

Rockman, Matthew V.

Publication type:

Book Review

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 97, doi. 10.1007/s00439-004-1139-1

By:

Morisawa, Takeshi;
Yagi, Mariko;
Surono, Agus;
Yokoyama, Naoki;
Ohmori, Makoto;
Terashi, Hiroto;
Matsuo, Masafumi

Publication type:

Article

Human Gene Mutations.

Published in:

Human Genetics, 2004, v. 115, n. 2, p. 169, doi. 10.1007/s00439-004-1148-0

By:

Ruiz-Cabello, F.;
Pedrinacci, S.;
Cantón, J.;
Alvarez, G.

Publication type:

Article