Works matching IS 03406717 AND DT 2004 AND VI 115 AND IP 6

Results: 14

FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 510, doi. 10.1007/s00439-004-1170-2

By:

Bendavid, Claude;
Kleta, Robert;
Long, Robert;
Ouspenskaia, Maia;
Muenke, Maximilian;
Haddad, Bassem R.;
Gahl, William A.

Publication type:

Article

Genome-wide linkage analysis replicates susceptibility locus for fasting plasma triglycerides: NHLBI Family Heart Study.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 468, doi. 10.1007/s00439-004-1182-y

By:

Arnett, Donna K.;
Miller, Michael B.;
Coon, Hilary;
Ellison, R. Curtis;
North, Kari E.;
Province, Michael;
Leppert, Mark;
Eckfeldt, John H.

Publication type:

Article

Francis Galton: Pioneer of heredity and biometry (2003).

Published in:

2004

By:

Berry, R. J.

Publication type:

Book Review

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 459, doi. 10.1007/s00439-004-1174-y

By:

Dunø, Morten;
Hove, Hanne;
Kirchhoff, Maria;
Devriendt, Koenraad;
Schwartz, Marianne

Publication type:

Article

Two linked polymorphic mutations (A(TA)7TAA and T-3279G) ofUGT1A1as the principal cause of Gilbert syndrome.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 525, doi. 10.1007/s00439-004-1183-x

By:

Maruo, Yoshihiro;
D'Addario, Carlos;
Mori, Asami;
Iwai, Masaru;
Takahashi, Hiroko;
Sato, Hiroshi;
Takeuchi, Yoshihiro

Publication type:

Article

The humanTlocus and spina bifida risk.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 475, doi. 10.1007/s00439-004-1185-8

By:

Jensen, Liselotte E.;
Barbaux, Sandrine;
Hoess, Katy;
Fraterman, Sven;
Whitehead, Alexander S.;
Mitchell, Laura E.

Publication type:

Article

Mutational analysis ofOGG1,MYH,MTH1in FAP, HNPCC and sporadic colorectal cancer patients: R154HOGG1polymorphism is associated with sporadic colorectal cancer patients.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 498, doi. 10.1007/s00439-004-1186-7

By:

Kim, I.-J.;
Ku, J.-L.;
Kang, H. C.;
Park, J.-H.;
Yoon, K.-A.;
Shin, Y.;
Park, H.-W.;
Jang, S. G.;
Lim, S.-K.;
Han, S. Y.;
Shin, Y.-K.;
Lee, M. R.;
Jeong, S.-Y.;
Shin, H.-R.;
Lee, J. S.;
Kim, W.-H.;
Park, J.-G.

Publication type:

Article

Emery A.E.H., Muntoni F. (eds): Duchenne muscular dystrophy.

Published in:

2004

By:

Mueller, C. R.

Publication type:

Book Review

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 515, doi. 10.1007/s00439-004-1187-6

By:

Bi, Weimin;
Saifi, G. Mustafa;
Shaw, Christine J.;
Walz, Katherina;
Fonseca, Patricia;
Wilson, Meredith;
Potocki, Lorraine;
Lupski, James R.

Publication type:

Article

Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 504, doi. 10.1007/s00439-004-1191-x

By:

Caldwell, Elizabeth F.;
Mayor, Lianne R.;
Thomas, Mark G.;
Danpure, Christopher J.

Publication type:

Article

TheCLCAgene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 483, doi. 10.1007/s00439-004-1190-y

By:

Ritzka, Margit;
Stanke, Frauke;
Jansen, Silke;
Gruber, Achim D.;
Pusch, Larissa;
Woelfl, Stefan;
Veeze, Henk J.;
Halley, Dicky J.;
Tümmler, Burkhard

Publication type:

Article

TP53haplotype-based analysis and incidence of post-angioplasty restenosis.

Published in:

2004

By:

Zee, Robert;
Cook, Nancy;
Kim, Chung-Ah;
Fernandez-Cruz, Arturo;
Lindpaintner, Klaus

Publication type:

Correction Notice

Y chromosome haplogroups of elite Ethiopian endurance runners.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 492, doi. 10.1007/s00439-004-1202-y

By:

Moran, Colin N.;
Scott, Robert A.;
Adams, Susan M.;
Warrington, Samantha J.;
Jobling, Mark A.;
Wilson, Richard H.;
Goodwin, William H.;
Georgiades, Evelina;
Wolde, Bezabhe;
Pitsiladis, Yannis P.

Publication type:

Article

Mutations.

Published in:: Human Genetics, 2004, v. 115, n. 6, p. 531, doi. 10.1007/s00439-004-1197-4
Publication type:: Article