Works matching IS 03406717 AND DT 2003 AND VI 114 AND IP 1

Results: 17

Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 1, doi. 10.1007/s00439-003-1008-3

By:

Fraumene, Cristina;
Petretto, Enrico;
Angius, Andrea;
Pirastu, Mario

Publication type:

Article

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 68, doi. 10.1007/s00439-003-1012-7

By:

Cai, Juanliang;
Goodman, Barbara K.;
Patel, Ankita S.;
Mulliken, John B.;
Van Maldergem, Lionel;
Hoganson, George E.;
Paznekas, William A.;
Ben-Neriah, Ziva;
Sheffer, Ruth;
Cunningham, Michael L.;
Daentl, Donna L.;
Jabs, Ethylin Wang

Publication type:

Article

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 51, doi. 10.1007/s00439-003-1016-3

By:

Starke, Heike;
Nietzel, Angela;
Weise, Anja;
Heller, Anita;
Mrasek, Kristin;
Belitz, Britta;
Kelbova, Christine;
Volleth, Marianne;
Albrecht, Beate;
Mitulla, Beate;
Trappe, Ralf;
Bartels, Iris;
Adolph, Sabine;
Dufke, Andreas;
Singer, Sylke;
Stumm, Markus;
Wegner, Rolf-Dieter;
Seidel, Jörg;
Schmidt, Angela;
Kuechler, Alma

Publication type:

Article

Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 87, doi. 10.1007/s00439-003-1026-1

By:

McCarthy, Jeanette J.;
Meyer, Joanne;
Moliterno, David J.;
Newby, L. Kristin;
Rogers, William J.;
Topol, Eric J.

Publication type:

Article

Entropy-based SNP selection for genetic association studies.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 36, doi. 10.1007/s00439-003-1017-2

By:

Hampe, Jochen;
Schreiber, Stefan;
Krawczak, Michael

Publication type:

Article

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 44, doi. 10.1007/s00439-003-1018-1

By:

Yan, Denise;
Hong-Joon Park;
Xiao Mei Ouyang;
Pandya, Arti;
Doi, Katsumi;
Erdenetungalag, Raadnabazar;
Li Lin Du;
Matsushiro, Naoki;
Nance, Walter E.;
Griffith, Andrew J.;
Xue Zhong Liu

Publication type:

Article

Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 27, doi. 10.1007/s00439-003-1019-0

By:

Han-Jun Jin;
Kyoung-Don Kwak;
Hammer, Michael F.;
Nakahori, Yutaka;
Shinka, Toshikatsu;
Ju-Won Lee;
Feng Jin;
Xuming Jia;
Tyler-Smith, Chris;
Wook Kim

Publication type:

Article

Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 99, doi. 10.1007/s00439-003-1021-6

By:

Windpassinger, Christian;
Wagner, Klaus;
Petek, Erwin;
Fischer, Renate;
Auer-Grumbach, Michaela

Publication type:

Article

No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 115, doi. 10.1007/s00439-003-1022-5

By:

Schumacher, Johannes;
Otte, Andreas C. J.;
Becker, Tim;
Sun, Yuli;
Wienker, Thomas F.;
Wirth, Brunhilde;
Franke, Petra;
Abou Jamra, Rami;
Propping, Peter;
xFC;rgen#Deckert, J&;
Nöthen, Markus M.;
Cichon, Sven

Publication type:

Article

Stephan Beck, Alexander Olek (eds): The Epigenome: Molecular Hide and Seek: Wiley (ISBN 3-527-30494-0), softcover, £24.95.

Published in:

2003

By:

Horsthemke, Bernhard

Publication type:

Book Review

Mitochondrial portraits of the Madeira and Açores archipelagos witness different genetic pools of its settlers.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 77, doi. 10.1007/s00439-003-1024-3

By:

Brehm, António;
Pereira, Luísa;
Kivisild, Toomas;
Amorim, António

Publication type:

Article

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 11, doi. 10.1007/s00439-003-1025-2

By:

Helmken, Claudia;
Hofmann, Yvonne;
Schoenen, Frank;
Oprea, Gabriela;
Raschke, Heidrun;
Rudnik-Schöneborn, Sabine;
Zerres, Klaus;
Wirth, Brunhilde

Publication type:

Article

Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 118, doi. 10.1007/s00439-003-1027-0

By:

Il-Jin Kim;
Jae-Hyun Park;
Hio Chung Kang;
Yong Shin;
Hye-Won Park;
Hye-Rin Park;
Ja-Lok Ku;
Seok-Byung Lim;
Jae-Gahb Park

Publication type:

Article

In vivo somatic microsatellite mutations identified in non-malignant human tissue.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 110, doi. 10.1007/s00439-003-1032-3

By:

Mann, Kathy;
Donaghue, Celia;
Ogilvie, Caroline Mackie

Publication type:

Article

Peter McGuffin, Michael J. Owen, Irving I. Gottesman (editors) Psychiatric genetics and genomics: Oxford University Press, Oxford, ISBN 0-19-263148-9, hardcover, 472 pages, £65.00 (2002).

Published in:

2003

By:

Propping, Peter

Publication type:

Book Review

Molecular analysis of congenital central hypoventilation syndrome.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 22, doi. 10.1007/s00439-003-1036-z

By:

Sasaki, Ayako;
Kanai, Masayo;
Kijima, Kazuki;
Akaba, Kazuhiro;
Hashimoto, Motoya;
Hasegawa, Hisaya;
Otaki, Shinsuke;
Koizumi, Takenobu;
Kusuda, Satoshi;
Ogawa, Youhei;
Tuchiya, Keiji;
Yamamoto, Wakako;
Nakamura, Tomohiko;
Hayasaka, Kiyoshi

Publication type:

Article

Susanne Hummel (editor) Ancient DNA typing: methods, strategies and applications: Springer-Verlag, Berlin Heidelberg, ISBN 3-540-43037-7, hardcover, 298 pages, £42.00 (2003).

Published in:

2003

By:

Brown, Terence A.;
Brown, Keri A.

Publication type:

Book Review