Works matching IS 03406717 AND DT 2003 AND VI 113 AND IP 3

Results: 14

Analysis of zinc transporter, hZnT4 (Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 202, doi. 10.1007/s00439-003-0952-2

By:

Michalczyk, Agnes;
Varigos, George;
Catto-Smith, Anthony;
Blomeley, Rachael C.;
Ackland, M. Leigh

Publication type:

Article

The origins and genetic structure of three co-resident Chinese Muslim populations: the Salar, Bo'an and Dongxiang.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 244, doi. 10.1007/s00439-003-0948-y

By:

Wei Wang;
Wise, Cheryl;
Baric, Tom;
Black, Michael L.;
Bittles, Alan H.

Publication type:

Article

Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 258, doi. 10.1007/s00439-003-0960-2

By:

Harold, Denise;
Peirce, Timothy;
Moskvina, Valentina;
Myers, Amanda;
Jones, Susan;
Hollingworth, Paul;
Moore, Pamela;
Lovestone, Simon;
Powell, John;
Foy, Catherine;
Archer, Nicola;
Walter, Sarah;
Edmonson, Amanda;
McIlroy, Stephen;
Craig, David;
Passmore, Peter A.;
Goate, Alison;
Hardy, John;
O'Donovan, Michael;
Williams, Julie

Publication type:

Article

Markers informative for ancestry demonstrate consistent megabase-length linkage disequilibrium in the African American population.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 211, doi. 10.1007/s00439-003-0961-1

By:

Collins-Schramm, Heather E.;
Chima, Bill;
Operario, Darwin J.;
Criswell, Lindsey A.;
Seldin, Michael F.

Publication type:

Article

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 280, doi. 10.1007/s00439-003-0962-0

By:

Scotet, Virginie;
Audrézet, Marie-Pierre;
Roussey, Michel;
Rault, Gilles;
Blayau, Martine;
De Braekeleer, Marc;
Férec, Claude

Publication type:

Article

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 286, doi. 10.1007/s00439-003-0963-z

By:

Sheth, Sunil;
Shea, Julie C.;
Bishop, Michele D.;
Chopra, Sanjiv;
Regan, Meredith M.;
Malmberg, Emily;
Walker, Carolyn;
Ricci, Ryan;
Lap-Chee Tsui;
Durie, Peter R.;
Zielenski, Julian;
Freedman, Steven D.

Publication type:

Article

The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 276, doi. 10.1007/s00439-003-0964-y

By:

Sa Tang;
Toda, Yoshiki;
Kashiwagi, Kenji;
Mabuchi, Fumihiko;
Iijima, Hiroyuki;
Tsukahara, Shigeo;
Yamagata, Zentaro

Publication type:

Article

Increased variation in mtDNA in patients with familial sensorineural hearing impairment.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 220, doi. 10.1007/s00439-003-0966-9

By:

Lehtonen, Mervi S.;
Moilanen, Jukka S.;
Majamaa, Kari

Publication type:

Article

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 293, doi. 10.1007/s00439-003-0967-8

By:

Tranebjaerg, Lisbeth;
Teslovich, Tanya M.;
Jones, MaryPat;
Barmada, M. Michael;
Fagerheim, Toril;
Dahl, Arve;
Escolar, Diana M.;
Trent, Jeffrey M.;
Gillanders, Elizabeth M.;
Stephan, Dietrich A.

Publication type:

Article

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 268, doi. 10.1007/s00439-003-0970-0

By:

van den Hurk, José A. J. M.;
van de Pol, Dorien J. R.;
Wissinger, Bernd;
van Driel, Marc A.;
Hoefsloot, Lies H.;
de Wijs, Ilse J.;
van den Born, L. Ingeborgh;
Heckenlively, John R.;
Brunner, Han G.;
Zrenner, Eberhart;
Ropers, Hans-Hilger;
Cremers, Frans P. M.

Publication type:

Article

Comparison of strategies for selecting single nucleotide polymorphisms for case/control association studies.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 253, doi. 10.1007/s00439-003-0965-x

By:

Qiqing Huang;
Yun-xin Fu;
Boerwinkle, Eric

Publication type:

Article

Lung cancer risk in germline p53 mutation carriers: association between an inherited cancer predisposition, cigarette smoking, and cancer risk.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 238, doi. 10.1007/s00439-003-0968-7

By:

Shih-Jen Hwang;
Li Shu-Chung Cheng;
Lozano, Guillermina;
Amos, Christopher I.;
Xiangjun Gu;
Strong, Louise C.

Publication type:

Article

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 228, doi. 10.1007/s00439-003-0969-6

By:

Astrom, Kristin;
Cohen, Joel E.;
Willett-Brozick, Joan E.;
Aston, Christopher E.;
Baysal, Bora E.

Publication type:

Article

Mutational analysis of the human FATE gene in 144 infertile men.

Published in:

Human Genetics, 2003, v. 113, n. 3, p. 195, doi. 10.1007/s00439-003-0974-9

By:

Olesen, Christian;
Silber, Joachim;
Eiberg, Hans;
Ernst, Erik;
Petersen, Karsten;
Lindenberg, Svend;
Tommerup, Niels

Publication type:

Article