Works matching IS 03406717 AND DT 2004 AND VI 114 AND IP 5

Results: 14

Common variants of ACE contribute to variable age-at-onset of Alzheimer’s disease.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 478, doi. 10.1007/s00439-004-1093-y

By:

Kehoe, Patrick G.;
Katzov, Hagit;
Andreasen, Niels;
Gatz, Maragaret;
Wilcock, Gordon K.;
Cairns, Nigel J.;
Palmgren, Juni;
de Faire, Ulf;
Brookes, Anthony J.;
Pedersen, Nancy L.;
Blennow, Kaj;
Prince, Jonathan A.

Publication type:

Article

Investigation of the Greek ancestry of populations from northern Pakistan.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 484, doi. 10.1007/s00439-004-1094-x

By:

Mansoor, Atika;
Mazhar, Kehkashan;
Khaliq, Shagufta;
Hameed, Abdul;
Rehman, Sadia;
Siddiqi, Saima;
Papaioannou, Myrto;
Cavalli-Sforza, L. L.;
Mehdi, S. Qasim;
Ayub, Qasim

Publication type:

Article

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 439, doi. 10.1007/s00439-004-1086-x

By:

Allen, Emily G.;
He, Weiya;
Yadav-Shah, Maneesha;
Sherman, Stephanie L.

Publication type:

Article

Association between IFNA genotype and the risk of sarcoidosis.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 503, doi. 10.1007/s00439-004-1099-5

By:

Akahoshi, Mitsuteru;
Ishihara, Mami;
Remus, Natascha;
Uno, Kazuko;
Miyake, Katsuhisa;
Hirota, Tomomitsu;
Nakashima, Kazuko;
Matsuda, Akira;
Kanda, Mizuo;
Enomoto, Tadao;
Ohno, Shigeaki;
Nakashima, Hitoshi;
Casanova, Jean-Laurent;
Hopkin, Julian M.;
Tamari, Mayumi;
Mao, Xiao-Quan;
Shirakawa, Taro

Publication type:

Article

Encyclopedia of the human genome: David N. Cooper (Editor), Nature Publishing Group, 2003, 5 hardcover volumes, ISBN 0-333-8036-8, prepublication price £600.

Published in:

2004

By:

Connor, J. Michael

Publication type:

Book Review

Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 510, doi. 10.1007/s00439-004-1103-0

By:

Peyrard-Janvid, Myriam;
Anthoni, Heidi;
Onkamo, Päivi;
Lahermo, Päivi;
Zucchelli, Marco;
Kaminen, Nina;
Hannula-Jouppi, Katariina;
Nopola-Hemmi, Jaana;
Voutilainen, Arja;
Lyytinen, Heikki;
Kere, Juha

Publication type:

Article

Detection of DNA copy number abnormality by microarray expression analysis.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 464, doi. 10.1007/s00439-004-1087-9

By:

Zhou, Xiaofeng;
Cole, Steven W.;
Hu, Shen;
Wong, David T. W.

Publication type:

Article

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 491, doi. 10.1007/s00439-004-1084-z

By:

Malmgren, B.;
Lindskog, S.;
Elgadi, A.;
Norgren, S.

Publication type:

Article

Chasing genes in Alzheimer’s and Parkinson’s disease.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 413, doi. 10.1007/s00439-004-1097-7

By:

Bertoli-Avella, Aida M.;
Oostra, Ben A.;
Heutink, Peter

Publication type:

Article

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 458, doi. 10.1007/s00439-004-1089-7

By:

Monticelli, Antonella;
Giacchetti, Manuela;
De Biase, Irene;
Pianese, Luigi;
Turano, Mimmo;
Pandolfo, Massimo;
Cocozza, Sergio

Publication type:

Article

A novel I247T missense mutation in the haptoglobin 2 β-chain decreases the expression of the protein and is associated with ahaptoglobinemia.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 499, doi. 10.1007/s00439-004-1098-6

By:

Teye, Kwesi;
Quaye, Isaac K. E.;
Koda, Yoshiro;
Soejima, Mikiko;
Pang, Hao;
Tsuneoka, Makoto;
Amoah, Albert G. B.;
Adjei, Andrew;
Kimura, Hiroshi

Publication type:

Article

Heart morphogenesis is not affected by overexpression of the Sh3bgr gene mapping to the Down syndrome heart critical region.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 517, doi. 10.1007/s00439-004-1088-8

By:

Sandri, Claudia;
Di Lisi, Raffaella;
Picard, Anne;
Argentini, Carla;
Calabria, Elisa;
Myklak, Kristene;
Scartezzini, Paolo;
Schiaffino, Stefano

Publication type:

Article

New genomic region for Wegener’s granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 468, doi. 10.1007/s00439-004-1092-z

By:

Jagiello, Peter;
Gencik, Martin;
Arning, Larissa;
Wieczorek, Stefan;
Kunstmann, Erdmute;
Csernok, Elena;
Gross, Wolfgang L.;
Epplen, Joerg T.

Publication type:

Article

Delineation of complex chromosomal rearrangements: evidence for increased complexity.

Published in:

Human Genetics, 2004, v. 114, n. 5, p. 448, doi. 10.1007/s00439-003-1079-1

By:

Astbury, Caroline;
Christ, Laurie A.;
Aughton, David J.;
Cassidy, Suzanne B.;
Fujimoto, Atsuko;
Pletcher, Beth A.;
Schafer, Irwin A.;
Schwartz, Stuart

Publication type:

Article