Works matching IS 03406717 AND DT 2004 AND VI 115 AND IP 5

Results: 14

Role of an intronic polymorphism in thePDCD1gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 393, doi. 10.1007/s00439-004-1172-0

By:

Sanghera, Dharambir;
Manzi, Susan;
Bontempo, Franklin;
Nestlerode, Cara;
Kamboh, M.

Publication type:

Article

Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 357, doi. 10.1007/s00439-004-1168-9

By:

Giacomo, F.;
Luca, F.;
Popa, L.;
Akar, N.;
Anagnou, N.;
Banyko, J.;
Brdicka, R.;
Barbujani, G.;
Papola, F.;
Ciavarella, G.;
Cucci, F.;
Stasi, L.;
Gavrila, L.;
Kerimova, M.;
Kovatchev, D.;
Kozlov, A.;
Loutradis, A.;
Mandarino, V.;
Mammi', C.;
Michalodimitrakis, E.

Publication type:

Article

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in theNBS1gene (I171V) associated with genomic instability.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 372, doi. 10.1007/s00439-004-1155-1

By:

Shimada, Hiroyuki;
Shimizu, Kimiko;
Mimaki, Sachiyo;
Sakiyama, Tokuki;
Mori, Tetsuya;
Shimasaki, Noriko;
Yokota, Jun;
Nakachi, Kei;
Ohta, Tsutomu;
Ohki, Misao

Publication type:

Article

Functional analysis of two-amino acid substitutions in gp91phoxin a patient with X-linked flavocytochromeb<sub>558</sub>-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 418, doi. 10.1007/s00439-004-1173-z

By:

Bionda, Clara;
Li, Xing;
Bruggen, Robin;
Eppink, Michel;
Roos, Dirk;
Morel, Françoise;
Stasia, Marie-José

Publication type:

Article

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 399, doi. 10.1007/s00439-004-1175-x

By:

Lachlan, Katherine;
Collinson, Morag;
Sandford, Richard;
Zyl, Berendine;
Jacobs, Patricia;
Thomas, N.

Publication type:

Article

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 409, doi. 10.1007/s00439-004-1166-y

By:

Zaahl, Monique;
Merryweather-Clarke, Alison;
Kotze, Maritha;
Merwe, Schalk;
Warnich, Louise;
Robson, Kathryn

Publication type:

Article

Low prevalence ofMYOCmutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 428, doi. 10.1007/s00439-004-1171-1

By:

Aldred, Micheala;
Baumber, Laura;
Hill, Alison;
Schwalbe, Edward;
Goh, Kai;
Karwatowski, Wojciech;
Trembath, Richard

Publication type:

Article

Landmarks in medical genetics: classic papers with commentaries. Peter S. Harper (ed), Oxford University Press, New York, 2004, ISBN 0-19-515930-6, 336 pages, hardcover, $89.50.

Published in:

2004

By:

Young, Ian

Publication type:

Book Review

A longitudinal study of X-inactivation ratio in human females.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 387, doi. 10.1007/s00439-004-1177-8

By:

Sandovici, Ionel;
Naumova, Anna;
Leppert, Mark;
Linares, Yendi;
Sapienza, Carmen

Publication type:

Article

A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 432, doi. 10.1007/s00439-004-1176-9

By:

Kloor, Matthias;
Sutter, Christian;
Wentzensen, Nicolas;
Cremer, Friedrich;
Buckowitz, Annick;
Keller, Monika;
Knebel Doeberitz, Magnus;
Gebert, Johannes

Publication type:

Article

Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 439, doi. 10.1007/s00439-004-1164-0

By:

Plaza, Stéphanie;
Salas, Antonio;
Calafell, Francesc;
Corte-Real, Francisco;
Bertranpetit, Jaume;
Carracedo, Ángel;
Comas, David

Publication type:

Article

Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 448, doi. 10.1007/s00439-004-1178-7

By:

Wong, Judy;
Kyasa, Mouhammed;
Hutchins, Laura;
Collins, Kathleen

Publication type:

Article

Positive selection in MAOA gene is human exclusive: determination of the putative amino acid change selected in the human lineage.

Published in:

Human Genetics, 2004, v. 115, n. 5, p. 377, doi. 10.1007/s00439-004-1179-6

By:

Andrés, Aida;
Soldevila, Marta;
Navarro, Arcadi;
Kidd, Kenneth;
Oliva, Baldomero;
Bertranpetit, Jaume

Publication type:

Article

Jozef Gécz, Grant R. Sutherland (eds): Nucleotide and protein expansions and human disease. Karger, 2003, ISBN 3-8055-7621-8, 298 pp, hardcover, 95.50 Euros.

Published in:

2004

By:

Monckton, Darren

Publication type:

Book Review